Select guide genes from the pre-defined gene sets.
Listed terms have 4 or more genes.
ID | Description | # Genes | Add |
---|---|---|---|
1 | citric acid | 7 | |
3 | bupropion | 11 | |
6 | dopamine | 31 | |
7 | lindane | 13 | |
8 | glycine | 6 | |
9 | nicotinic acid | 6 | |
10 | pyrazinamide | 5 | |
13 | 4-aminopyridine | 36 | |
14 | phenytoin | 18 | |
15 | Tacrine | 15 | |
17 | acetaminophen | 21 | |
18 | acetazolamide | 16 | |
22 | albendazole | 21 | |
25 | allopurinol | 8 | |
26 | alprazolam | 27 | |
31 | theophylline | 13 | |
32 | amiodarone | 46 | |
33 | amitriptyline | 32 | |
34 | amlexanox | 17 | |
35 | amlodipine | 11 | |
36 | amoxapine | 35 | |
38 | anisindione | 8 | |
40 | aspirin | 8 | |
42 | azathioprine | 16 | |
44 | baclofen | 6 | |
46 | benzthiazide | 5 | |
47 | bethanechol | 5 | |
48 | bisacodyl | 23 | |
49 | brimonidine | 15 | |
50 | bumetanide | 19 | |
52 | busulfan | 7 | |
53 | butenafine | 6 | |
54 | caffeine | 14 | |
55 | VERAPAMIL | 12 | |
56 | Candesartan cilexetil | 9 | |
57 | Carbastat | 7 | |
58 | carbamazepine | 17 | |
59 | carmustine | 9 | |
61 | carvedilol | 29 | |
62 | celecoxib | 37 | |
63 | chlorambucil | 9 | |
64 | chlordiazepoxide | 20 | |
65 | chloroquine | 11 | |
67 | chloroxine | 34 | |
68 | DEXCHLORPHENIRAMINE | 17 | |
69 | chlorpromazine | 50 | |
70 | chlorpropamide | 8 | |
71 | chlorthalidone | 13 | |
72 | chlorzoxazone | 4 | |
73 | cilostazol | 15 | |
74 | cimetidine | 9 | |
76 | ciprofloxacin | 6 | |
77 | cisapride | 18 | |
78 | Clobazam | 16 | |
79 | clofazimine | 32 | |
80 | clofibrate | 10 | |
81 | clonazepam | 16 | |
82 | clonidine | 13 | |
83 | clotrimazole | 87 | |
84 | clozapine | 47 | |
86 | cyclophosphamide | 7 | |
87 | cyclothiazide | 6 | |
88 | CYPROHEPTADINE | 24 | |
89 | dapsone | 5 | |
91 | deferiprone | 5 | |
92 | deferoxamine | 5 | |
93 | diazepam | 23 | |
94 | diazoxide | 7 | |
95 | diclofenac | 15 | |
96 | dichlorphenamide | 14 | |
97 | dicyclomine | 19 | |
99 | DIPHENIDOL | 10 | |
100 | diflunisal | 9 | |
101 | diphenhydramine | 18 | |
103 | dipyridamole | 69 | |
104 | disulfiram | 79 | |
105 | VALPROIC ACID | 18 | |
106 | donepezil | 5 | |
108 | doxazosin | 14 | |
109 | droperidol | 19 | |
110 | dyphylline | 5 | |
111 | enflurane | 23 | |
113 | estazolam | 19 | |
114 | ETHACRYNIC ACID | 30 | |
115 | ethopropazine | 4 | |
117 | ethotoin | 10 | |
118 | ethoxzolamide | 16 | |
119 | Etidronic acid | 7 | |
120 | etodolac | 4 | |
121 | felbamate | 13 | |
122 | felodipine | 24 | |
123 | fenofibrate | 19 | |
124 | fenoldopam | 6 | |
126 | fentanyl | 4 | |
130 | fluconazole | 8 | |
132 | FLUPHENAZINE | 43 | |
133 | flumazenil | 21 | |
134 | 5-Fluorouracil | 8 | |
135 | fluoxetine | 21 | |
139 | flurbiprofen | 10 | |
140 | flutamide | 15 | |
142 | Arformoterol | 6 | |
144 | furosemide | 15 | |
145 | gabapentin | 23 | |
147 | gemfibrozil | 14 | |
148 | glimepiride | 4 | |
149 | glipizide | 4 | |
150 | glutethimide | 16 | |
151 | glyburide | 9 | |
152 | GUANFACINE | 11 | |
153 | haloperidol | 35 | |
154 | haloprogin | 24 | |
155 | halothane | 24 | |
156 | hexachlorophene | 111 | |
158 | hydralazine | 12 | |
162 | hydroxyurea | 7 | |
163 | hydroxyzine | 5 | |
164 | Phenelzine | 9 | |
165 | lidocaine | 10 | |
167 | imipramine | 19 | |
168 | Amrinone | 29 | |
169 | indapamide | 14 | |
170 | indomethacin | 23 | |
172 | isocarboxazid | 5 | |
174 | isoflurane | 23 | |
175 | isoniazid | 5 | |
177 | isoproterenol | 8 | |
178 | isradipine | 9 | |
179 | ketamine | 4 | |
180 | ketoprofen | 6 | |
182 | ketotifen | 17 | |
183 | labetalol | 13 | |
184 | lamotrigine | 16 | |
185 | lansoprazole | 25 | |
186 | leflunomide | 22 | |
187 | letrozole | 5 | |
188 | loperamide | 21 | |
189 | loratadine | 23 | |
190 | lorazepam | 16 | |
191 | losartan | 4 | |
192 | loxapine | 7 | |
193 | mafenide | 10 | |
194 | malathion | 6 | |
196 | mebendazole | 16 | |
198 | meclofenamate | 6 | |
199 | MECLOFENAMATE SODIUM | 7 | |
200 | mefenamic acid | 14 | |
202 | memantine | 4 | |
203 | menadione | 35 | |
205 | mepivacaine | 4 | |
206 | meprobamate | 16 | |
207 | 5-Aminosalicylic acid | 23 | |
208 | mesoridazine | 4 | |
210 | metharbital | 16 | |
211 | methazolamide | 17 | |
212 | methoxsalen | 8 | |
213 | methoxyflurane | 18 | |
216 | methyprylon | 16 | |
217 | metoclopramide | 8 | |
218 | metolazone | 12 | |
221 | metyrapone | 4 | |
222 | miconazole | 57 | |
223 | midodrine | 5 | |
224 | milrinone | 4 | |
225 | minoxidil | 9 | |
226 | mirtazapine | 12 | |
227 | mitotane | 20 | |
228 | nabumetone | 12 | |
229 | nalidixic acid | 4 | |
231 | naratriptan | 5 | |
232 | nevirapine | 11 | |
233 | nicardipine | 18 | |
234 | niclosamide | 50 | |
235 | nifedipine | 61 | |
236 | nilutamide | 11 | |
237 | nimodipine | 18 | |
238 | nisoldipine | 41 | |
240 | norfloxacin | 6 | |
241 | nortriptyline | 26 | |
242 | olanzapine | 29 | |
243 | omeprazole | 28 | |
244 | ondansetron | 13 | |
245 | orphenadrine | 19 | |
247 | oxaprozin | 5 | |
248 | oxazepam | 20 | |
251 | oxybutynin | 13 | |
252 | oxymetazoline | 16 | |
255 | pantoprazole | 7 | |
258 | pentamidine | 17 | |
259 | pentobarbital | 16 | |
260 | pentoxifylline | 29 | |
261 | perphenazine | 30 | |
262 | phenacemide | 11 | |
263 | PHENAZINE | 5 | |
266 | phenylbutazone | 16 | |
267 | pindolol | 11 | |
268 | Pioglitazone | 6 | |
271 | prazepam | 24 | |
273 | prazosin | 22 | |
274 | prilocaine | 10 | |
275 | PRIMAQUINE | 4 | |
276 | primidone | 29 | |
277 | probenecid | 5 | |
280 | prochlorperazine | 53 | |
282 | promazine | 27 | |
283 | promethazine | 26 | |
284 | propafenone | 21 | |
287 | propofol | 24 | |
288 | propranolol | 16 | |
289 | protriptyline | 8 | |
290 | pyridostigmine | 5 | |
291 | pyrimethamine | 19 | |
292 | quazepam | 16 | |
293 | quetiapine | 25 | |
295 | riluzole | 23 | |
297 | risperidone | 27 | |
298 | rofecoxib | 5 | |
299 | ropinirole | 5 | |
300 | Salmeterol | 11 | |
301 | sevoflurane | 23 | |
304 | sotalol | 8 | |
305 | Vorinostat | 28 | |
309 | sulfanilamide | 13 | |
310 | sulfaphenazole | 7 | |
311 | sulfinpyrazone | 11 | |
312 | sulfisoxazole | 4 | |
313 | sumatriptan | 10 | |
315 | tazarotene | 9 | |
316 | temazepam | 17 | |
318 | terazosin | 15 | |
320 | thalidomide | 6 | |
321 | thiabendazole | 10 | |
322 | thioridazine | 40 | |
323 | thiotepa | 9 | |
324 | ticlopidine | 12 | |
326 | tioconazole | 9 | |
327 | tolazamide | 9 | |
329 | tolbutamide | 4 | |
332 | trazodone | 14 | |
333 | triamterene | 29 | |
334 | triazolam | 25 | |
335 | trichlormethiazide | 11 | |
336 | trifluoperazine | 24 | |
337 | triflupromazine | 5 | |
338 | trihexyphenidyl | 7 | |
340 | trimethoprim | 7 | |
341 | trioxsalen | 5 | |
342 | troglitazone | 22 | |
343 | tropicamide | 9 | |
344 | Delavirdine | 5 | |
346 | zafirlukast | 37 | |
347 | zaleplon | 6 | |
348 | zolpidem | 9 | |
349 | zonisamide | 24 | |
350 | Guanidine hydrochloride | 35 | |
351 | dexamethasone | 12 | |
354 | mitomycin C | 16 | |
356 | hydrocortisone | 10 | |
357 | prednisolone | 7 | |
358 | estradiol | 26 | |
359 | reserpine | 25 | |
360 | phentolamine | 16 | |
361 | floxuridine | 18 | |
362 | PROCAINE HYDROCHLORIDE | 11 | |
363 | epinephrine | 27 | |
364 | L-thyroxine | 11 | |
366 | dextroamphetamine | 6 | |
367 | carbachol | 9 | |
368 | Norethisterone acetate | 7 | |
369 | spironolactone | 19 | |
370 | prednisolone acetate | 5 | |
371 | prednisone | 8 | |
372 | estrone | 10 | |
374 | Depo-medrol | 5 | |
376 | METHANTHELINE BROMIDE | 5 | |
377 | PROMAZINE HYDROCHLORIDE | 14 | |
380 | Pilocarpine hydrochloride | 5 | |
381 | pilocarpine | 6 | |
382 | liothyronine | 24 | |
384 | Deoxycorticosterone acetate | 5 | |
385 | quinidine | 14 | |
388 | ethinyl estradiol | 37 | |
389 | progesterone | 37 | |
390 | testosterone propionate | 7 | |
392 | apomorphine | 21 | |
393 | methyltestosterone | 6 | |
394 | testosterone | 15 | |
396 | cephalothin | 11 | |
397 | folic acid | 6 | |
399 | levodopa | 34 | |
400 | ACETYLCHOLINE CHLORIDE | 15 | |
402 | DIPHEMANIL METHYLSULFATE | 4 | |
403 | colchicine | 39 | |
404 | GALLAMINE TRIETHIODIDE | 8 | |
407 | FLUOCINOLONE ACETONIDE | 5 | |
409 | norethindrone | 7 | |
410 | norethynodrel | 7 | |
412 | Chlorpromazine hydrochloride | 32 | |
413 | Caffeine citrate | 4 | |
414 | ampicillin | 11 | |
415 | cytarabine | 18 | |
416 | Trifluridine | 14 | |
417 | Medroxyprogesterone acetate | 20 | |
418 | Isopropamide Iodide | 10 | |
419 | QUINETHAZONE | 5 | |
422 | TRIAMCINOLONE ACETONIDE | 8 | |
423 | fluoxymesterone | 4 | |
424 | MEPENZOLATE BROMIDE | 7 | |
426 | CYCLIZINE | 14 | |
427 | methylprednisolone | 5 | |
431 | PSEUDOEPHEDRINE | 13 | |
432 | PYRIDOSTIGMINE BROMIDE | 6 | |
433 | Monobenzone | 12 | |
435 | ERGOTAMINE | 22 | |
436 | methylergonovine | 17 | |
437 | Imipramine hydrochloride | 12 | |
440 | Edrophonium chloride | 4 | |
441 | DESERPIDINE | 8 | |
444 | D-Thyroxine | 4 | |
445 | DIPHENHYDRAMINE HYDROCHLORIDE | 9 | |
446 | QUINESTROL | 11 | |
447 | dydrogesterone | 5 | |
448 | Tripelennamine hydrochloride | 5 | |
449 | Cysteamine hydrochloride | 7 | |
450 | ETHYNODIOL DIACETATE | 9 | |
451 | PROPANTHELINE BROMIDE | 10 | |
452 | HYDRALAZINE HYDROCHLORIDE | 14 | |
453 | Pargyline hydrochloride | 4 | |
454 | Depoestradiol | 5 | |
456 | aminophylline | 10 | |
458 | 5-azacytidine | 29 | |
460 | fluocinonide | 4 | |
463 | methysergide | 22 | |
464 | betamethasone | 7 | |
465 | Ergotamine D-tartrate | 5 | |
466 | fluorometholone | 6 | |
467 | Clopoxide chloride | 16 | |
468 | chenodeoxycholic acid | 7 | |
469 | dihydroergotamine | 22 | |
471 | podophyllotoxin | 47 | |
472 | medroxyprogesterone | 5 | |
475 | DECAMETHONIUM BROMIDE | 5 | |
476 | Crystal violet | 48 | |
477 | Amitriptyline hydrochloride | 15 | |
478 | NAPHAZOLINE HYDROCHLORIDE | 8 | |
480 | chlorotrianisene | 8 | |
481 | MEGESTROL ACETATE | 7 | |
482 | erythromycin | 15 | |
483 | Levonorgestrel | 6 | |
485 | ethylestrenol | 12 | |
487 | cyproheptadine hydrochloride | 12 | |
488 | estradiol valerate | 7 | |
490 | Metformin hydrochloride | 44 | |
493 | flurandrenolide | 7 | |
495 | Dronabinol | 7 | |
496 | Methylenediphosphonic acid | 5 | |
497 | AMILORIDE HYDROCHLORIDE | 9 | |
498 | AMILORIDE | 7 | |
499 | pimozide | 47 | |
501 | Cortisol succinate | 6 | |
502 | fluorescein | 7 | |
506 | stavudine | 7 | |
507 | MIDODRINE HYDROCHLORIDE | 4 | |
509 | tranylcypromine | 6 | |
510 | PIPERACETAZINE | 9 | |
511 | CLONIDINE HYDROCHLORIDE | 5 | |
512 | Cladribine | 14 | |
513 | beclomethasone | 11 | |
514 | BECLOMETHASONE DIPROPIONATE | 9 | |
516 | BETAMETHASONE DIPROPIONATE | 5 | |
517 | Succinylcholine chloride | 5 | |
518 | Cyclobenzaprine hydrochloride | 13 | |
520 | MOLINDONE | 4 | |
522 | ACRISORCIN | 4 | |
523 | Metubine iodide | 5 | |
525 | stanozolol | 7 | |
526 | Hydrocortisone 17-butyrate | 5 | |
527 | selegiline | 9 | |
529 | clemastine | 29 | |
530 | PANCURONIUM BROMIDE | 5 | |
534 | danazol | 30 | |
535 | deslanoside | 10 | |
536 | daunorubicin | 30 | |
537 | fludarabine phosphate | 6 | |
538 | BROMOCRIPTINE MESYLATE | 12 | |
539 | bromocriptine | 23 | |
540 | triamcinolone | 15 | |
541 | fludrocortisone | 4 | |
542 | ursodiol | 4 | |
544 | Halazepam | 16 | |
545 | doxorubicin | 20 | |
546 | CLOBETASOL PROPIONATE | 6 | |
549 | amoxicillin | 8 | |
550 | timolol | 4 | |
551 | OXCARBAZEPINE | 15 | |
552 | carbidopa | 10 | |
554 | zidovudine | 11 | |
556 | paclitaxel | 35 | |
557 | Etomidate | 24 | |
558 | Buspirone hydrochloride | 8 | |
559 | etoposide | 24 | |
560 | dobutamine | 26 | |
561 | Flurazepam monohydrochloride | 16 | |
562 | HALOFANTRINE HYDROCHLORIDE | 9 | |
564 | ribavirin | 7 | |
567 | methyldopa | 41 | |
569 | nadolol | 9 | |
570 | diltiazem | 9 | |
571 | LEVOBUNOLOL | 5 | |
572 | VECURONIUM BROMIDE | 10 | |
574 | (S)-(+)-Ibuprofen | 7 | |
575 | budesonide | 18 | |
579 | DESOGESTREL | 5 | |
580 | NITAZOXANIDE | 25 | |
581 | acarbose | 6 | |
582 | Torasemide | 6 | |
583 | DESFLURANE | 23 | |
585 | IDARUBICIN | 24 | |
586 | MIDAZOLAM HYDROCHLORIDE | 23 | |
588 | paroxetine | 18 | |
589 | captopril | 9 | |
591 | Atracurium besylate | 7 | |
592 | ketoconazole | 33 | |
593 | pergolide | 17 | |
594 | PERGOLIDE MESYLATE | 11 | |
596 | didanosine | 9 | |
598 | cefaclor | 11 | |
599 | Mitoxantrone dihydrochloride | 26 | |
600 | Miglustat | 4 | |
602 | HALOPERIDOL DECANOATE | 4 | |
603 | lovastatin | 33 | |
605 | simvastatin | 19 | |
607 | cabergoline | 8 | |
609 | Atomoxetine | 8 | |
611 | Accupril | 4 | |
612 | RALOXIFENE HYDROCHLORIDE | 36 | |
613 | NEFAZODONE HYDROCHLORIDE | 12 | |
614 | mifepristone | 31 | |
615 | itraconazole | 10 | |
616 | Fosphenytoin sodium | 10 | |
617 | RANOLAZINE | 4 | |
618 | finasteride | 11 | |
619 | IMIQUIMOD | 6 | |
620 | Rotigotine | 5 | |
622 | ADAPALENE | 11 | |
623 | EXEMESTANE | 5 | |
625 | ZILEUTON | 11 | |
626 | clopidogrel | 9 | |
629 | TOPOTECAN HYDROCHLORIDE | 44 | |
630 | topotecan | 6 | |
632 | GEMCITABINE HYDROCHLORIDE | 11 | |
634 | ALOSETRON HYDROCHLORIDE | 7 | |
637 | Aripiprazole | 23 | |
639 | ATORVASTATIN CALCIUM | 7 | |
640 | atorvastatin | 10 | |
642 | DULOXETINE HYDROCHLORIDE | 7 | |
643 | irinotecan | 10 | |
646 | Ziprasidone | 24 | |
648 | zolmitriptan | 5 | |
652 | Emtricitabine | 5 | |
653 | Saquinavir mesylate | 12 | |
656 | adenosine | 8 | |
657 | Phenelzine sulfate | 14 | |
659 | Rubidomycin hydrochloride | 84 | |
660 | Sildenafil citrate | 10 | |
661 | Paroxetine hydrochloride | 21 | |
662 | Deferoxamine mesylate | 10 | |
663 | Cisatracurium besylate | 6 | |
664 | Diltiazem hydrochloride | 7 | |
665 | Trazodone hydrochloride | 11 | |
669 | Sertraline hydrochloride | 15 | |
670 | efavirenz | 14 | |
671 | Nelfinavir mesylate | 11 | |
672 | Amantadine hydrochloride | 8 | |
673 | Quinidine sulfate hydrate | 11 | |
675 | Plerixafor | 4 | |
678 | Dobutamine hydrochloride | 7 | |
679 | Desipramine hydrochloride | 11 | |
680 | Mefloquine hydrochloride | 19 | |
681 | PIPECURONIUM BROMIDE | 5 | |
682 | TICLOPIDINE HYDROCHLORIDE | 5 | |
683 | Dopamine hydrochloride | 17 | |
684 | Epirubicin hydrochloride | 37 | |
688 | Sufentanil citrate | 11 | |
690 | Repaglinide | 6 | |
691 | Telmisartan | 11 | |
692 | Trihexyphenidyl hydrochloride | 6 | |
693 | Trifluoperazine dihydrochloride | 5 | |
694 | procainamide hydrochloride | 11 | |
696 | Oxymetazoline hydrochloride | 13 | |
698 | Dyclonine hydrochloride | 25 | |
700 | Clomipramine hydrochloride | 14 | |
701 | Prazosin hydrochloride | 17 | |
702 | sertraline | 33 | |
703 | Ropinirole hydrochloride | 4 | |
704 | Zoledronic acid | 6 | |
705 | Brinzolamide | 12 | |
708 | Dofetilide | 9 | |
709 | Iloperidone | 5 | |
710 | Masoprocol | 26 | |
711 | Loxapine succinate | 12 | |
712 | Loxapine hydrochloride | 5 | |
713 | guanfacine hydrochloride | 5 | |
714 | Labetalol hydrochloride | 14 | |
715 | Diflorasone diacetate | 6 | |
716 | Loperamide hydrochloride | 18 | |
717 | Maprotiline hydrochloride | 24 | |
718 | Voriconazole | 4 | |
719 | Alfuzosin Hydrochloride | 4 | |
723 | ATOVAQUONE | 10 | |
724 | Irinotecan hydrochloride | 5 | |
726 | Eletriptan | 5 | |
728 | rosiglitazone | 7 | |
729 | Bexarotene | 13 | |
730 | flunisolide | 8 | |
731 | clarithromycin | 6 | |
733 | nicotine | 13 | |
736 | Phentolamine mesylate | 13 | |
737 | Prochlorperazine edisylate | 17 | |
740 | droxidopa | 9 | |
743 | Fulvestrant | 10 | |
745 | Fingolimod hydrochloride | 5 | |
746 | Fingolimod | 4 | |
747 | Vardenafil | 17 | |
748 | Tadalafil | 8 | |
751 | Paliperidone | 5 | |
755 | Clofarabine | 12 | |
756 | pramipexole | 4 | |
757 | Valdecoxib | 15 | |
760 | Retigabine | 5 | |
761 | Imatinib mesylate | 10 | |
763 | Gefitinib | 86 | |
764 | Desloratadine | 25 | |
767 | methotrexate | 31 | |
769 | Rufinamide | 11 | |
772 | Febuxostat | 4 | |
778 | docetaxel | 22 | |
779 | Atazanavir | 4 | |
780 | LEVOFLOXACIN | 5 | |
781 | Ezetimibe | 6 | |
786 | Acamprosate calcium | 24 | |
787 | NAPROXEN | 9 | |
788 | Cinacalcet hydrochloride | 4 | |
795 | Proge | 10 | |
797 | ATROPINE | 10 | |
798 | Ropivacaine hydrochloride | 10 | |
800 | Eslicarbazepine acetate | 10 | |
801 | MEMANTINE HYDROCHLORIDE | 10 | |
802 | TROLEANDOMYCIN | 4 | |
803 | Dronedarone | 5 | |
805 | Lapatinib | 18 | |
807 | Sorafenib | 115 | |
811 | Lacosamide | 22 | |
812 | Ziprasidone hydrochloride | 6 | |
817 | Dexamethasone 21-acetate | 6 | |
819 | medrysone | 5 | |
820 | Vincristine sulfate | 35 | |
822 | Bortezomib | 35 | |
823 | ritonavir | 24 | |
824 | Sorafenib tosylate | 42 | |
825 | OXYTOCIN | 4 | |
828 | griseofulvin | 14 | |
829 | digitoxin | 33 | |
831 | SAQUINAVIR | 14 | |
834 | MIGLITOL | 4 | |
835 | Amiodarone hydrochloride | 11 | |
836 | mometasone furoate | 11 | |
837 | Dicyclomine hydrochloride | 5 | |
839 | METYROSINE | 6 | |
840 | ROCURONIUM BROMIDE | 7 | |
841 | Nortriptyline hydrochloride | 18 | |
842 | terconazole | 26 | |
843 | linezolid | 6 | |
847 | Ajmalicine | 11 | |
850 | tolterodine | 5 | |
851 | difluprednate | 8 | |
852 | Doxorubicin Hydrochloride | 103 | |
853 | halcinonide | 4 | |
855 | amcinonide | 11 | |
856 | FLUMETHASONE PIVALATE | 4 | |
857 | Estramustine phosphate sodium | 4 | |
858 | Loteprednol etabonate | 5 | |
860 | Darifenacin | 5 | |
863 | Retinoic acid | 46 | |
864 | retinol | 19 | |
865 | tacrolimus | 6 | |
868 | mycophenolic acid | 16 | |
870 | azithromycin | 5 | |
871 | diethylstilbestrol | 60 | |
873 | Alitretinoin | 17 | |
874 | Roflumilast | 4 | |
875 | Decitabine | 7 | |
876 | DACTINOMYCIN | 24 | |
877 | melphalan | 17 | |
881 | Proparacaine hydrochloride | 13 | |
882 | idarubicin hydrochloride | 44 | |
887 | Nilotinib | 66 | |
890 | OXTRIPHYLLINE | 4 | |
891 | ANISOTROPINE METHYLBROMIDE | 4 | |
892 | propylthiouracil | 7 | |
894 | Atrovent | 7 | |
895 | chlorprothixene | 13 | |
896 | doxepin | 5 | |
897 | dienestrol | 14 | |
900 | 6-Mercaptopurine | 18 | |
901 | Tiotixene | 11 | |
902 | Eszopiclone | 17 | |
904 | sulindac | 14 | |
905 | Capsaicin | 10 | |
906 | terbinafine | 4 | |
907 | 6-Thioguanine | 23 | |
909 | digoxin | 58 | |
910 | Tamoxifen citrate | 39 | |
911 | tamoxifen | 69 | |
916 | Luliconazole | 8 | |
917 | Telaprevir | 10 | |
922 | Clomifene citrate | 21 | |
923 | orlistat | 12 | |
929 | Dasatinib | 143 | |
930 | Vandetanib | 116 | |
932 | Benztropine mesilate | 5 | |
936 | Diclofenac sodium | 12 | |
937 | Dinoprostone | 7 | |
938 | calcitriol | 13 | |
940 | alprostadil | 11 | |
941 | ergocalciferol | 10 | |
942 | Vitamin D3 | 13 | |
943 | Rescinnamin | 16 | |
944 | amphotericin b | 9 | |
947 | Prochlorperazine dimaleate | 6 | |
948 | Timolol maleate | 4 | |
950 | Dexchlorpheniramine maleate | 6 | |
952 | Methysergide maleate | 28 | |
954 | ethchlorvynol | 16 | |
955 | mycophenolate mofetil | 9 | |
956 | ENTACAPONE | 6 | |
964 | etretinate | 7 | |
965 | Isotretinoin | 22 | |
966 | misoprostol | 6 | |
968 | KETOTIFEN FUMARATE | 9 | |
969 | indocyanine green | 30 | |
974 | CLOCORTOLONE PIVALATE | 4 | |
975 | Cortisol 17-valerate | 6 | |
976 | AC1NR2UR | 9 | |
979 | PHENYLEPHRINE HYDROCHLORIDE | 8 | |
980 | PYRILAMINE MALEATE | 4 | |
981 | Acitretin | 14 | |
982 | dorzolamide | 12 | |
984 | granisetron | 5 | |
988 | nalmefene | 4 | |
989 | naloxone | 5 | |
992 | topiramate | 48 | |
993 | Calcipotriol | 8 | |
994 | morphine | 5 | |
996 | DESONIDE | 4 | |
997 | desoximetasone | 6 | |
999 | nalbuphine | 6 | |
1000 | nateglinide | 7 | |
1001 | Rapacuronium bromide | 5 | |
1002 | RIMEXOLONE | 4 | |
1004 | furazolidone | 7 | |
1005 | Bosutinib | 197 | |
1006 | Sunitinib | 255 | |
1010 | sulfasalazine | 7 | |
1011 | naltrexone | 4 | |
1013 | NALBUPHINE HYDROCHLORIDE | 8 | |
1014 | butorphanol | 7 | |
1016 | BENAZEPRIL HYDROCHLORIDE | 9 | |
1018 | TAMSULOSIN HYDROCHLORIDE | 4 | |
1019 | indinavir | 9 | |
1020 | Rifampicin | 12 | |
1021 | Enalapril maleate | 5 | |
1022 | Vinblastine sulfate | 45 | |
1024 | nitrofurazone | 6 | |
1025 | Pamine | 4 | |
1028 | Indinavir sulfate | 7 | |
1030 | Naloxone hydrochloride | 9 | |
1032 | ceftriaxone | 5 | |
1034 | Naltrexone hydrochloride | 4 | |
1036 | Pregabalin | 24 | |
1038 | Deferasirox | 5 | |
1040 | Guanabenz acetate | 8 | |
1041 | guanabenz | 11 | |
1042 | Triprolidine hydrochloride | 5 | |
1043 | famotidine | 9 | |
1044 | aztreonam | 5 | |
1047 | RIFABUTIN | 6 | |
1050 | Doxepin Hydrochloride | 10 | |
1051 | CLOMIPHENE CITRATE | 24 | |
1052 | Benoxinate hydrochloride | 12 | |
1057 | Everolimus | 6 | |
1058 | Ixabepilone | 15 | |
1059 | Axitinib | 103 | |
1061 | Sunitinib malate | 9 | |
1063 | Protriptyline hydrochloride | 10 | |
1064 | DANTROLENE SODIUM | 5 | |
1065 | nitrofurantoin | 13 | |
1066 | PREDNICARBATE | 4 | |
1067 | dantrolene | 6 | |
1068 | cefdinir | 12 | |
1069 | ETONOGESTREL | 5 | |
1077 | Ulobetasol propionate | 4 | |
1078 | Dutasteride | 5 | |
1083 | Belinostat | 9 | |
1085 | chlorhexidine | 50 | |
1086 | Oxiconazole nitrate | 10 | |
1087 | FLUVOXAMINE MALEATE | 7 | |
1091 | Vargatef | 15 | |
1098 | CABAZITAXEL | 15 | |
1105 | Gabapentin enacarbil | 23 | |
1107 | Perampanel | 4 | |
1110 | Tofacitinib citrate | 4 | |
1112 | Afatinib | 38 | |
1114 | Arkitropin | 4 | |
1115 | CEFOTAXIME SODIUM SALT | 21 | |
1117 | Regorafenib | 18 | |
1121 | Aclidinium bromide | 5 | |
1122 | Pazopanib hydrochloride | 28 | |
1123 | Carfilzomib | 24 | |
1128 | Crizotinib | 145 | |
1131 | Acetazolamide sodium | 4 | |
1141 | Chinini sulfas | 5 | |
1146 | Eribulin mesylate | 15 | |
1152 | Meclomen | 5 | |
1154 | AMPICILLIN SODIUM | 4 | |
1155 | CERIVASTATIN SODIUM | 6 | |
1156 | MONTELUKAST SODIUM | 10 | |
1159 | Cytomel | 15 | |
1160 | CEFMETAZOLE SODIUM | 6 | |
1161 | CEFOXITIN SODIUM | 9 | |
1167 | CEFUROXIME SODIUM | 7 | |
1171 | CEPHAPIRIN SODIUM | 13 | |
1173 | CEPHALOTHIN SODIUM | 6 | |
1181 | Hydrocortisone sodium succinate | 6 | |
1186 | Ibrutinib | 4 | |
1187 | PONATINIB | 6 | |
1194 | doxycycline | 8 | |
1196 | tetracycline | 19 | |
1197 | oxytetracycline | 45 | |
1198 | minocycline | 8 | |
1199 | dicumarol | 11 | |
1200 | piroxicam | 10 | |
1202 | meloxicam | 5 | |
1205 | OXYTETRACYCLINE HYDROCHLORIDE | 8 | |
1208 | METHACYCLINE HYDROCHLORIDE | 43 | |
1209 | MINOCYCLINE HYDROCHLORIDE | 4 | |
1210 | DEMECLOCYCLINE HYDROCHLORIDE | 23 | |
1214 | Sirolimus | 11 |
ID | Description | # Genes | Add |
---|---|---|---|
DOID:7148 | rheumatoid arthritis | 484 | |
DOID:2627 | glioma | 418 | |
DOID:2237 | hepatitis | 414 | |
DOID:10763 | hypertension | 405 | |
DOID:10652 | Alzheimer's disease | 388 | |
DOID:9119 | acute myeloid leukemia | 375 | |
DOID:8857 | lupus erythematosus | 356 | |
DOID:8692 | myeloid leukemia | 356 | |
DOID:769 | neuroblastoma | 351 | |
DOID:2841 | asthma | 349 | |
DOID:9970 | obesity | 345 | |
DOID:1936 | atherosclerosis | 334 | |
DOID:657 | adenoma | 321 | |
DOID:4450 | renal cell carcinoma | 315 | |
DOID:0070004 | myeloma | 310 | |
DOID:3068 | glioblastoma | 293 | |
DOID:2377 | multiple sclerosis | 295 | |
DOID:9074 | systemic lupus erythematosus | 288 | |
DOID:3908 | non-small cell lung carcinoma | 287 | |
DOID:5428 | bladder cancer | 266 | |
DOID:3459 | breast carcinoma | 279 | |
DOID:5844 | myocardial infarction | 268 | |
DOID:10591 | pre-eclampsia | 259 | |
DOID:9973 | substance dependence | 258 | |
DOID:4001 | epithelial ovarian cancer | 258 | |
DOID:289 | endometriosis | 255 | |
DOID:3455 | cerebrovascular accident | 253 | |
DOID:9538 | multiple myeloma | 236 | |
DOID:1883 | hepatitis C | 229 | |
DOID:934 | viral infectious disease | 216 | |
DOID:5683 | hereditary breast ovarian cancer | 216 | |
DOID:1036 | chronic leukemia | 205 | |
DOID:6000 | heart failure | 212 | |
DOID:114 | heart disease | 206 | |
DOID:3347 | osteosarcoma | 212 | |
DOID:8893 | psoriasis | 200 | |
DOID:1037 | lymphoblastic leukemia | 200 | |
DOID:2355 | anemia | 203 | |
DOID:5082 | liver cirrhosis | 205 | |
DOID:5223 | infertility | 201 | |
DOID:8577 | ulcerative colitis | 198 | |
DOID:3083 | chronic obstructive pulmonary disease | 200 | |
DOID:9261 | nasopharynx carcinoma | 191 | |
DOID:2043 | hepatitis B | 192 | |
DOID:1826 | epilepsy | 190 | |
DOID:1612 | mammary cancer | 191 | |
DOID:326 | ischemia | 188 | |
DOID:12849 | autism | 185 | |
DOID:1115 | sarcoma | 183 | |
DOID:1040 | chronic lymphocytic leukemia | 165 | |
DOID:8398 | osteoarthritis | 184 | |
DOID:8778 | Crohn's disease | 177 | |
DOID:3963 | thyroid carcinoma | 174 | |
DOID:2723 | dermatitis | 169 | |
DOID:5520 | head and neck squamous cell carcinoma | 164 | |
DOID:8552 | chronic myeloid leukemia | 164 | |
DOID:418 | systemic scleroderma | 165 | |
DOID:2370 | diabetic nephropathy | 159 | |
DOID:14330 | Parkinson's disease | 155 | |
DOID:11612 | polycystic ovary syndrome | 162 | |
DOID:3910 | lung adenocarcinoma | 157 | |
DOID:3393 | coronary heart disease | 155 | |
DOID:8719 | in situ carcinoma | 152 | |
DOID:3905 | lung carcinoma | 155 | |
DOID:332 | amyotrophic lateral sclerosis | 153 | |
DOID:3312 | bipolar disease | 151 | |
DOID:1059 | intellectual disability | 145 | |
DOID:409 | liver disease | 145 | |
DOID:399 | tuberculosis | 143 | |
DOID:3310 | atopic dermatitis | 140 | |
DOID:557 | kidney disease | 139 | |
DOID:1520 | colon carcinoma | 136 | |
DOID:10008 | malignant neoplasm of thyroid | 136 | |
DOID:3858 | medulloblastoma | 130 | |
DOID:1485 | cystic fibrosis | 133 | |
DOID:1307 | dementia | 129 | |
DOID:3008 | ductal breast carcinoma | 121 | |
DOID:11259 | Cytomegalovirus infectious disease | 122 | |
DOID:1205 | allergy | 121 | |
DOID:612 | primary immunodeficiency disease | 120 | |
DOID:4947 | cholangiocarcinoma | 117 | |
DOID:870 | neuropathy | 114 | |
DOID:3069 | astrocytoma | 117 | |
DOID:824 | periodontitis | 115 | |
DOID:10825 | essential hypertension | 114 | |
DOID:4989 | pancreatitis | 111 | |
DOID:768 | retinoblastoma | 111 | |
DOID:3770 | pulmonary fibrosis | 112 | |
DOID:0050298 | Adenoviridae infectious disease | 109 | |
DOID:230 | lateral sclerosis | 110 | |
DOID:2871 | endometrial carcinoma | 110 | |
DOID:8469 | influenza | 107 | |
DOID:3680 | malignant neoplasm of lip, oral cavity and pharynx | 105 | |
DOID:3969 | papillary thyroid carcinoma | 96 | |
DOID:2645 | mesothelioma | 101 | |
DOID:10286 | prostate carcinoma | 97 | |
DOID:4483 | rhinitis | 98 | |
DOID:1686 | glaucoma | 95 | |
DOID:4481 | allergic rhinitis | 97 | |
DOID:4195 | hyperglycemia | 98 | |
DOID:3498 | pancreatic ductal adenocarcinoma | 94 | |
DOID:12603 | acute leukemia | 93 | |
DOID:12365 | malaria | 95 | |
DOID:12930 | dilated cardiomyopathy | 90 | |
DOID:1074 | kidney failure | 93 | |
DOID:9452 | fatty liver | 90 | |
DOID:8566 | herpes simplex | 91 | |
DOID:3717 | gastric adenocarcinoma | 89 | |
DOID:9408 | acute myocardial infarction | 89 | |
DOID:11476 | osteoporosis | 89 | |
DOID:10608 | celiac disease | 86 | |
DOID:1542 | neck carcinoma | 87 | |
DOID:526 | Human immunodeficiency virus infectious disease | 86 | |
DOID:423 | myopathy | 80 | |
DOID:1112 | neck cancer | 84 | |
DOID:10952 | nephritis | 86 | |
DOID:5616 | intraepithelial neoplasm | 78 | |
DOID:3007 | ductal carcinoma | 83 | |
DOID:9206 | Barrett's esophagus | 81 | |
DOID:552 | pneumonia | 83 | |
DOID:4905 | pancreatic carcinoma | 81 | |
DOID:11934 | head and neck cancer | 81 | |
DOID:3612 | retinitis | 82 | |
DOID:11335 | sarcoidosis | 79 | |
DOID:127 | fibroid tumor | 77 | |
DOID:4074 | pancreas adenocarcinoma | 79 | |
DOID:9884 | muscular dystrophy | 76 | |
DOID:2986 | IgA glomerulonephritis | 77 | |
DOID:2876 | laryngeal squamous cell carcinoma | 77 | |
DOID:3247 | rhabdomyosarcoma | 75 | |
DOID:9778 | irritable bowel syndrome | 76 | |
DOID:2403 | aneurysm | 76 | |
DOID:4451 | renal carcinoma | 73 | |
DOID:13241 | Behcet's disease | 72 | |
DOID:12361 | Graves' disease | 75 | |
DOID:10584 | retinitis pigmentosa | 74 | |
DOID:2487 | hypercholesterolemia | 72 | |
DOID:12336 | male infertility | 71 | |
DOID:8947 | diabetic retinopathy | 71 | |
DOID:6364 | migraine | 70 | |
DOID:4448 | macular degeneration | 70 | |
DOID:3326 | purpura | 69 | |
DOID:6432 | pulmonary hypertension | 69 | |
DOID:12894 | Sjogren's syndrome | 68 | |
DOID:7147 | ankylosing spondylitis | 63 | |
DOID:6590 | spondylitis | 63 | |
DOID:10871 | age related macular degeneration | 67 | |
DOID:10283 | malignant neoplasm of prostate | 65 | |
DOID:8567 | Hodgkin's lymphoma | 67 | |
DOID:3565 | meningioma | 66 | |
DOID:12306 | vitiligo | 62 | |
DOID:2991 | stromal neoplasm | 64 | |
DOID:0050156 | idiopathic pulmonary fibrosis | 64 | |
DOID:12236 | primary biliary cirrhosis | 63 | |
DOID:9201 | lichen planus | 63 | |
DOID:635 | acquired immunodeficiency syndrome | 62 | |
DOID:2513 | basal cell carcinoma | 62 | |
DOID:11984 | hypertrophic cardiomyopathy | 61 | |
DOID:643 | progressive multifocal leukoencephalopathy | 60 | |
DOID:3371 | chondrosarcoma | 60 | |
DOID:83 | cataract | 58 | |
DOID:715 | T-cell leukemia | 59 | |
DOID:576 | proteinuria | 58 | |
DOID:4029 | gastritis | 58 | |
DOID:850 | lung disease | 56 | |
DOID:1168 | familial hyperlipidemia | 57 | |
DOID:9296 | cleft lip | 54 | |
DOID:5183 | hereditary Wilms' cancer | 54 | |
DOID:3995 | transitional cell carcinoma | 54 | |
DOID:3526 | cerebral infarction | 55 | |
DOID:306 | dyskinetic syndrome | 54 | |
DOID:2869 | arteriopathy | 55 | |
DOID:12722 | liver metastasis | 55 | |
DOID:12449 | aplastic anemia | 50 | |
DOID:1184 | nephrotic syndrome | 54 | |
DOID:1067 | open-angle glaucoma | 53 | |
DOID:8524 | nodular lymphoma | 53 | |
DOID:13378 | mucocutaneous lymph node syndrome | 53 | |
DOID:11714 | gestational diabetes | 54 | |
DOID:7166 | thyroiditis | 51 | |
DOID:395 | congestive heart failure | 51 | |
DOID:2921 | glomerulonephritis | 51 | |
DOID:3070 | malignant glioma | 49 | |
DOID:9588 | encephalitis | 49 | |
DOID:419 | scleroderma | 48 | |
DOID:4007 | bladder carcinoma | 48 | |
DOID:3627 | aortic aneurysm | 50 | |
DOID:178 | vascular disease | 50 | |
DOID:10003 | sensorineural hearing loss | 47 | |
DOID:9120 | amyloidosis | 48 | |
DOID:3328 | temporal lobe epilepsy | 48 | |
DOID:2913 | acute pancreatitis | 47 | |
DOID:13315 | relapsing pancreatitis | 48 | |
DOID:1070 | chronic simple glaucoma | 48 | |
DOID:4971 | myelofibrosis | 47 | |
DOID:9007 | sudden infant death syndrome | 46 | |
DOID:2957 | pulmonary tuberculosis | 45 | |
DOID:1588 | thrombocytopenia | 46 | |
DOID:1107 | esophageal carcinoma | 44 | |
DOID:3602 | neurotoxicity syndrome | 46 | |
DOID:2018 | hyperinsulinism | 46 | |
DOID:14227 | azoospermia | 44 | |
DOID:13580 | cholestasis | 46 | |
DOID:987 | alopecia | 45 | |
DOID:8689 | anorexia nervosa | 45 | |
DOID:8510 | encephalopathy | 45 | |
DOID:4358 | metastatic melanoma | 45 | |
DOID:11830 | myopia | 38 | |
DOID:8090 | malignant neoplasm of gallbladder | 43 | |
DOID:2945 | severe acute respiratory syndrome | 44 | |
DOID:1648 | primary breast cancer | 44 | |
DOID:1555 | urticaria | 42 | |
DOID:1459 | hypothyroidism | 42 | |
DOID:12858 | Huntington's disease | 44 | |
DOID:10603 | glucose intolerance | 43 | |
DOID:7693 | abdominal aortic aneurysm | 43 | |
DOID:674 | cleft palate | 42 | |
DOID:627 | severe combined immunodeficiency | 43 | |
DOID:543 | dystonia | 39 | |
DOID:5426 | premature ovarian failure | 38 | |
DOID:2797 | idiopathic interstitial pneumonia | 41 | |
DOID:0050435 | Hashimoto Disease | 41 | |
DOID:767 | muscular atrophy | 40 | |
DOID:5157 | pleural mesothelioma | 40 | |
DOID:4948 | gallbladder carcinoma | 41 | |
DOID:437 | myasthenia gravis | 40 | |
DOID:4159 | skin cancer | 40 | |
DOID:3686 | primary Helicobacter infectious disease | 41 | |
DOID:3676 | renal malignant neoplasm | 40 | |
DOID:9415 | allergic asthma | 39 | |
DOID:8584 | Burkitt's lymphoma | 38 | |
DOID:8432 | polycythemia | 40 | |
DOID:3594 | choriocarcinoma | 39 | |
DOID:11077 | brucellosis | 40 | |
DOID:1024 | leprosy | 38 | |
DOID:417 | autoimmune disease | 37 | |
DOID:3113 | papillary carcinoma | 39 | |
DOID:2942 | bronchiolitis | 38 | |
DOID:12217 | Lewy body disease | 38 | |
DOID:4866 | adenoid cystic carcinoma | 38 | |
DOID:255 | hemangioma | 37 | |
DOID:11946 | habitual abortion | 38 | |
DOID:9008 | psoriatic arthritis | 34 | |
DOID:5898 | polycystic kidney disease | 37 | |
DOID:3298 | vaccinia | 37 | |
DOID:594 | panic disease | 35 | |
DOID:3114 | serous cystadenocarcinoma | 34 | |
DOID:1790 | malignant mesothelioma | 36 | |
DOID:9182 | pemphigus | 35 | |
DOID:722 | spontaneous abortion | 33 | |
DOID:1564 | fungal infectious disease | 34 | |
DOID:13207 | proliferative diabetic retinopathy | 35 | |
DOID:1272 | telangiectasis | 34 | |
DOID:12716 | newborn respiratory distress syndrome | 35 | |
DOID:1116 | pertussis | 35 | |
DOID:10241 | thalassemia | 33 | |
DOID:0080001 | bone disease | 35 | |
DOID:9993 | hypoglycemia | 34 | |
DOID:8725 | vascular dementia | 34 | |
DOID:8691 | mycosis fungoides | 33 | |
DOID:865 | vasculitis | 33 | |
DOID:7474 | malignant pleural mesothelioma | 33 | |
DOID:13250 | diarrhea | 33 | |
DOID:11650 | bronchopulmonary dysplasia | 32 | |
DOID:10223 | dermatomyositis | 34 | |
DOID:811 | lipodystrophy | 33 | |
DOID:3443 | Paget's disease | 33 | |
DOID:3388 | periodontal disease | 33 | |
DOID:2870 | endometrial adenocarcinoma | 32 | |
DOID:1227 | neutropenia | 33 | |
DOID:8622 | measles | 32 | |
DOID:8541 | Sezary's disease | 31 | |
DOID:5485 | synovial sarcoma | 32 | |
DOID:13375 | temporal arteritis | 32 | |
DOID:13223 | uterine fibroid | 32 | |
DOID:8997 | polycythemia vera | 31 | |
DOID:8029 | sporadic breast cancer | 30 | |
DOID:2526 | adenocarcinoma of prostate | 31 | |
DOID:2228 | thrombocytosis | 30 | |
DOID:11394 | adult respiratory distress syndrome | 31 | |
DOID:10595 | Charcot-Marie-Tooth disease | 30 | |
DOID:633 | myositis | 29 | |
DOID:5409 | lung small cell carcinoma | 29 | |
DOID:3973 | medullary carcinoma of thyroid | 30 | |
DOID:3829 | pituitary adenoma | 30 | |
DOID:11981 | morbid obesity | 30 | |
DOID:10907 | microcephaly | 30 | |
DOID:10222 | polymyositis | 30 | |
DOID:869 | cholesteatoma | 28 | |
DOID:8506 | bullous pemphigoid | 29 | |
DOID:8466 | retinal degeneration | 29 | |
DOID:6713 | cerebrovascular disease | 28 | |
DOID:4798 | aggressive systemic mastocytosis | 28 | |
DOID:1967 | leiomyosarcoma | 28 | |
DOID:1712 | aortic valve stenosis | 29 | |
DOID:1441 | spinocerebellar ataxia | 27 | |
DOID:12177 | common variable immunodeficiency | 29 | |
DOID:0060041 | autism spectrum disease | 29 | |
DOID:8771 | contagious pustular dermatitis | 24 | |
DOID:4928 | intrahepatic cholangiocarcinoma | 27 | |
DOID:3588 | pancreatic neoplasm | 28 | |
DOID:3394 | myocardial ischemia | 28 | |
DOID:308 | myoclonic epilepsy | 26 | |
DOID:2349 | arteriosclerosis | 28 | |
DOID:1924 | hypogonadism | 27 | |
DOID:13141 | uveitis | 28 | |
DOID:12017 | group B streptococcal pneumonia | 27 | |
DOID:8929 | atrophic gastritis | 25 | |
DOID:4440 | seminoma | 26 | |
DOID:2987 | familial Mediterranean fever | 27 | |
DOID:2703 | synovitis | 27 | |
DOID:2352 | hemochromatosis | 27 | |
DOID:14250 | Down's syndrome | 27 | |
DOID:1389 | polyneuropathy | 27 | |
DOID:11963 | esophagitis | 26 | |
DOID:10923 | sickle cell anemia | 27 | |
DOID:10159 | osteonecrosis | 27 | |
DOID:9471 | meningitis | 26 | |
DOID:820 | myocarditis | 26 | |
DOID:607 | paraplegia | 22 | |
DOID:5737 | primary myelofibrosis | 25 | |
DOID:3275 | thymoma | 26 | |
DOID:2994 | germ cell cancer | 25 | |
DOID:13809 | familial combined hyperlipidemia | 26 | |
DOID:1312 | focal segmental glomerulosclerosis | 26 | |
DOID:12704 | ataxia telangiectasia | 25 | |
DOID:10526 | conjunctival pterygium | 26 | |
DOID:0002116 | pterygium | 26 | |
DOID:986 | alopecia areata | 25 | |
DOID:784 | chronic kidney failure | 25 | |
DOID:4531 | mucoepidermoid carcinoma | 24 | |
DOID:14069 | cerebral malaria | 25 | |
DOID:13543 | hyperparathyroidism | 24 | |
DOID:9279 | hyperhomocysteinemia | 24 | |
DOID:3744 | cervical squamous cell carcinoma | 24 | |
DOID:2350 | iron overload | 24 | |
DOID:1682 | congenital heart defect | 24 | |
DOID:161 | keratosis | 23 | |
DOID:1301 | RNA virus infectious disease | 24 | |
DOID:8534 | gastroesophageal reflux disease | 22 | |
DOID:5937 | autosomal dominant polycystic kidney | 23 | |
DOID:583 | hemolytic anemia | 22 | |
DOID:3405 | histiocytosis | 23 | |
DOID:3000 | endometrioid carcinoma | 23 | |
DOID:2615 | papilloma | 23 | |
DOID:2048 | autoimmune hepatitis | 21 | |
DOID:1724 | duodenal ulcer | 23 | |
DOID:1697 | ichthyosis | 23 | |
DOID:13810 | familial hypercholesterolemia | 23 | |
DOID:13189 | gout | 23 | |
DOID:12377 | spinal muscular atrophy | 22 | |
DOID:11723 | Duchenne muscular dystrophy | 23 | |
DOID:11613 | hyperandrogenism | 23 | |
DOID:10892 | hypospadias | 23 | |
DOID:10588 | adrenoleukodystrophy | 22 | |
DOID:10126 | keratoconus | 23 | |
DOID:8805 | intermediate coronary syndrome | 22 | |
DOID:687 | hepatoblastoma | 22 | |
DOID:6543 | acne | 22 | |
DOID:640 | encephalomyelitis | 21 | |
DOID:631 | fibromyalgia | 22 | |
DOID:3907 | lung squamous cell carcinoma | 20 | |
DOID:3355 | fibrosarcoma | 22 | |
DOID:2988 | antiphospholipid syndrome | 21 | |
DOID:2799 | bronchiolitis obliterans | 21 | |
DOID:231 | motor neuron disease | 21 | |
DOID:13515 | tuberous sclerosis | 22 | |
DOID:1094 | attention deficit hyperactivity disease | 22 | |
DOID:9446 | cholangitis | 21 | |
DOID:9253 | gastrointestinal stromal tumor | 21 | |
DOID:9065 | leishmaniasis | 21 | |
DOID:8986 | narcolepsy | 18 | |
DOID:8828 | systemic inflammatory response syndrome | 21 | |
DOID:8712 | neurofibromatosis | 21 | |
DOID:7998 | hyperthyroidism | 21 | |
DOID:7012 | anaplastic thyroid carcinoma | 21 | |
DOID:6453 | hemophagocytic lymphohistiocytosis | 21 | |
DOID:644 | leukoencephalopathy | 21 | |
DOID:4967 | adrenal hyperplasia | 20 | |
DOID:4752 | multiple system atrophy | 20 | |
DOID:3192 | neurilemmoma | 20 | |
DOID:3087 | gingivitis | 21 | |
DOID:2730 | epidermolysis bullosa | 21 | |
DOID:2449 | acromegaly | 21 | |
DOID:2158 | lung metastasis | 21 | |
DOID:14221 | metabolic syndrome X | 21 | |
DOID:13133 | HELLP syndrome | 21 | |
DOID:10933 | obsessive-compulsive disease | 21 | |
DOID:10754 | otitis media | 20 | |
DOID:9952 | acute lymphocytic leukemia | 20 | |
DOID:8632 | Kaposi's sarcoma | 18 | |
DOID:8544 | chronic fatigue syndrome | 20 | |
DOID:8283 | peritonitis | 20 | |
DOID:783 | end stage renal failure | 18 | |
DOID:5659 | invasive carcinoma | 19 | |
DOID:4990 | essential tremor | 19 | |
DOID:4897 | bile duct carcinoma | 20 | |
DOID:3308 | embryonal carcinoma | 19 | |
DOID:3082 | interstitial lung disease | 18 | |
DOID:2154 | nephroblastoma | 19 | |
DOID:1920 | hyperuricemia | 20 | |
DOID:1800 | neuroendocrine carcinoma | 20 | |
DOID:14067 | Plasmodium falciparum malaria | 20 | |
DOID:12252 | Cushing syndrome | 20 | |
DOID:12140 | Chagas disease | 18 | |
DOID:11724 | limb-girdle muscular dystrophy | 20 | |
DOID:11123 | Henoch-Schoenlein purpura | 20 | |
DOID:9352 | diabetes mellitus type 2 | 19 | |
DOID:452 | mixed salivary gland tumor | 19 | |
DOID:3962 | follicular thyroid carcinoma | 19 | |
DOID:3302 | chordoma | 18 | |
DOID:2566 | corneal dystrophy | 18 | |
DOID:2476 | spastic paraplegia | 17 | |
DOID:2121 | ectodermal dysplasia | 19 | |
DOID:1935 | Bardet-Biedl syndrome | 19 | |
DOID:1921 | Klinefelter's syndrome | 19 | |
DOID:12132 | Wegener's granulomatosis | 19 | |
DOID:10930 | borderline personality disease | 19 | |
DOID:0050458 | juvenile myelomonocytic leukemia | 19 | |
DOID:8924 | immune thrombocytopenic purpura | 18 | |
DOID:8866 | actinic keratosis | 17 | |
DOID:750 | peptic ulcer | 18 | |
DOID:574 | peripheral nervous system disease | 17 | |
DOID:5679 | retinal disease | 18 | |
DOID:5614 | eye disease | 18 | |
DOID:3903 | insulinoma | 18 | |
DOID:3246 | embryonal rhabdomyosarcoma | 18 | |
DOID:3181 | oligodendroglioma | 18 | |
DOID:2938 | Epstein-Barr virus infectious disease | 18 | |
DOID:2547 | intractable epilepsy | 18 | |
DOID:200 | giant cell tumor | 18 | |
DOID:1852 | intrahepatic cholestasis | 18 | |
DOID:14791 | Leber congenital amaurosis | 18 | |
DOID:13406 | pulmonary sarcoidosis | 18 | |
DOID:12554 | hemolytic-uremic syndrome | 18 | |
DOID:11836 | clubfoot | 18 | |
DOID:11722 | myotonic dystrophy | 17 | |
DOID:10325 | silicosis | 18 | |
DOID:9477 | pulmonary embolism | 17 | |
DOID:84 | osteochondritis dissecans | 17 | |
DOID:4960 | bone marrow cancer | 17 | |
DOID:3490 | Noonan syndrome | 17 | |
DOID:3324 | mood disease | 17 | |
DOID:2681 | nevus | 16 | |
DOID:263 | kidney neoplasm | 17 | |
DOID:234 | colon adenocarcinoma | 17 | |
DOID:1969 | cerebral palsy | 17 | |
DOID:171 | neuroectodermal tumor | 17 | |
DOID:1508 | candidiasis | 17 | |
DOID:12842 | Guillain-Barre syndrome | 17 | |
DOID:1273 | respiratory syncytial virus infectious disease | 17 | |
DOID:11983 | Prader-Willi syndrome | 15 | |
DOID:10762 | portal hypertension | 17 | |
DOID:10487 | Hirschsprung's disease | 17 | |
DOID:0060001 | withdrawal disease | 17 | |
DOID:9975 | cocaine dependence | 16 | |
DOID:9974 | drug dependence | 16 | |
DOID:9743 | diabetic neuropathy | 16 | |
DOID:759 | congenital disorder | 16 | |
DOID:514 | prostatic neoplasm | 16 | |
DOID:3702 | cervical adenocarcinoma | 16 | |
DOID:2747 | glycogen storage disease | 15 | |
DOID:2452 | thrombophilia | 16 | |
DOID:2230 | hemophilia | 16 | |
DOID:1827 | generalized epilepsy | 16 | |
DOID:1681 | heart septal defect | 16 | |
DOID:1679 | cystitis | 15 | |
DOID:1206 | Rett syndrome | 16 | |
DOID:11729 | Lyme disease | 16 | |
DOID:10976 | membranous glomerulonephritis | 16 | |
DOID:10941 | intracranial aneurysm | 16 | |
DOID:999 | eosinophilia | 15 | |
DOID:9637 | stomatitis | 15 | |
DOID:8869 | neuromyelitis optica | 15 | |
DOID:8711 | neurofibromatosis type 1 | 15 | |
DOID:8501 | fundus dystrophy | 15 | |
DOID:5389 | oxyphilic adenoma | 15 | |
DOID:4621 | holoprosencephaly | 15 | |
DOID:3457 | lobular carcinoma | 14 | |
DOID:3265 | chronic granulomatous disease | 14 | |
DOID:319 | spinal cord disease | 15 | |
DOID:3194 | nerve sheath tumors | 15 | |
DOID:2491 | sensory peripheral neuropathy | 15 | |
DOID:14268 | sclerosing cholangitis | 15 | |
DOID:13564 | aspergillosis | 15 | |
DOID:12129 | bulimia nervosa | 15 | |
DOID:11949 | Creutzfeldt-Jakob syndrome | 15 | |
DOID:11862 | late pregnancy | 15 | |
DOID:1148 | polydactyly | 15 | |
DOID:11426 | ovarian endometriosis | 15 | |
DOID:11383 | cryptorchidism | 15 | |
DOID:11202 | primary hyperparathyroidism | 14 | |
DOID:10579 | leukodystrophy | 15 | |
DOID:0050427 | xeroderma pigmentosum | 15 | |
DOID:9744 | diabetes mellitus type 1 | 13 | |
DOID:9667 | placental abruption | 14 | |
DOID:9563 | bronchiectasis | 14 | |
DOID:8781 | rubella | 14 | |
DOID:6419 | tetralogy of Fallot | 14 | |
DOID:4248 | coronary stenosis | 13 | |
DOID:3650 | lactic acidosis | 12 | |
DOID:350 | mastocytosis | 13 | |
DOID:3451 | skin carcinoma | 14 | |
DOID:3385 | bacterial vaginosis | 14 | |
DOID:3149 | keratoacanthoma | 14 | |
DOID:2917 | cryoglobulinemia | 14 | |
DOID:2738 | pseudoxanthoma elasticum | 14 | |
DOID:2099 | extramammary Paget's disease | 14 | |
DOID:2055 | post-traumatic stress disease | 14 | |
DOID:1395 | schistosomiasis | 14 | |
DOID:13001 | carotid stenosis | 14 | |
DOID:12206 | dengue hemorrhagic fever | 14 | |
DOID:11247 | disseminated intravascular coagulation | 14 | |
DOID:10808 | gastric ulcer | 14 | |
DOID:10211 | cholelithiasis | 14 | |
DOID:9814 | rheumatic heart disease | 13 | |
DOID:9164 | achalasia | 13 | |
DOID:841 | extrinsic allergic alveolitis | 13 | |
DOID:7319 | axonal neuropathy | 13 | |
DOID:678 | progressive supranuclear palsy | 13 | |
DOID:6132 | bronchitis | 13 | |
DOID:5940 | malignant peripheral nerve sheath tumor | 13 | |
DOID:4468 | clear cell adenocarcinoma | 13 | |
DOID:3827 | congenital diaphragmatic hernia | 13 | |
DOID:3463 | breast disease | 13 | |
DOID:3319 | lymphangioleiomyomatosis | 13 | |
DOID:3086 | gingival overgrowth | 13 | |
DOID:2378 | relapsing-remitting multiple sclerosis | 13 | |
DOID:14071 | hydatidiform mole | 13 | |
DOID:13774 | Addison's disease | 13 | |
DOID:13641 | exfoliation syndrome | 13 | |
DOID:13608 | biliary atresia | 13 | |
DOID:13533 | osteopetrosis | 13 | |
DOID:12176 | goiter | 12 | |
DOID:1003 | pelvic inflammatory disease | 12 | |
DOID:0050424 | familial adenomatous polyposis | 13 | |
DOID:962 | neurofibroma | 12 | |
DOID:9562 | primary ciliary dyskinesia | 12 | |
DOID:9169 | Wiskott-Aldrich syndrome | 12 | |
DOID:8923 | skin melanoma | 12 | |
DOID:8527 | monocytic leukemia | 12 | |
DOID:8452 | malnutrition | 12 | |
DOID:7757 | childhood leukemia | 12 | |
DOID:619 | lymphoproliferative disease | 11 | |
DOID:6196 | reactive arthritis | 11 | |
DOID:614 | lymphopenia | 12 | |
DOID:5688 | Werner syndrome | 12 | |
DOID:5408 | Paget's disease of bone | 12 | |
DOID:539 | ophthalmoplegia | 10 | |
DOID:4415 | fibrous histiocytoma | 12 | |
DOID:4231 | histiocytoma | 12 | |
DOID:3911 | progeria | 12 | |
DOID:3500 | gallbladder adenocarcinoma | 12 | |
DOID:3125 | multiple endocrine neoplasia | 12 | |
DOID:2800 | acute interstitial pneumonia | 12 | |
DOID:2773 | contact dermatitis | 12 | |
DOID:2769 | tic disease | 12 | |
DOID:224 | transient cerebral ischemia | 12 | |
DOID:1825 | absence epilepsy | 12 | |
DOID:168 | primitive neuroectodermal tumor | 12 | |
DOID:1574 | alcohol abuse | 12 | |
DOID:14499 | Fabry disease | 12 | |
DOID:14018 | alcoholic liver cirrhosis | 12 | |
DOID:13976 | peptic esophagitis | 11 | |
DOID:13544 | low tension glaucoma | 11 | |
DOID:13359 | Ehlers-Danlos syndrome | 12 | |
DOID:13268 | porphyria | 12 | |
DOID:12798 | mucopolysaccharidosis | 12 | |
DOID:12337 | varicocele | 11 | |
DOID:12255 | congenital adrenal hyperplasia | 11 | |
DOID:11266 | hemorrhagic fever with renal syndrome | 12 | |
DOID:1123 | spondyloarthropathy | 12 | |
DOID:11119 | Gilles de la Tourette syndrome | 12 | |
DOID:0050439 | Usher syndrome | 12 | |
DOID:0050120 | hemophagocytic syndrome | 12 | |
DOID:9080 | macroglobulinemia | 9 | |
DOID:8677 | perinatal necrotizing enterocolitis | 11 | |
DOID:8670 | eating disease | 11 | |
DOID:7188 | autoimmune thyroiditis | 10 | |
DOID:4851 | pilocytic astrocytoma | 11 | |
DOID:4724 | brain edema | 11 | |
DOID:4676 | uremia | 11 | |
DOID:4428 | dyslexia | 9 | |
DOID:4305 | giant cell tumor of bone | 11 | |
DOID:4015 | spindle cell carcinoma | 7 | |
DOID:3948 | adrenocortical carcinoma | 11 | |
DOID:37 | skin disease | 11 | |
DOID:3713 | ovary adenocarcinoma | 11 | |
DOID:3507 | dermatofibrosarcoma | 11 | |
DOID:3437 | laryngitis | 9 | |
DOID:3429 | inclusion body myositis | 10 | |
DOID:3390 | palmoplantar keratosis | 11 | |
DOID:3382 | liposarcoma | 11 | |
DOID:2893 | cervix carcinoma | 11 | |
DOID:2717 | bloom syndrome | 11 | |
DOID:2089 | constipation | 11 | |
DOID:1884 | viral hepatitis | 9 | |
DOID:1882 | atrial heart septal defect | 11 | |
DOID:1586 | rheumatic fever | 11 | |
DOID:157 | epithelial carcinoma | 11 | |
DOID:1558 | angioneurotic edema | 11 | |
DOID:14681 | Silver-Russell syndrome | 9 | |
DOID:13593 | eclampsia | 11 | |
DOID:12881 | idiopathic urticaria | 10 | |
DOID:12120 | pulmonary alveolar proteinosis | 11 | |
DOID:11632 | neonatal hypothyroidism | 11 | |
DOID:11400 | pyelonephritis | 11 | |
DOID:11396 | pulmonary edema | 11 | |
DOID:1019 | osteomyelitis | 11 | |
DOID:0050127 | sinusitis | 11 | |
DOID:9849 | Meniere's disease | 10 | |
DOID:911 | malignant neoplasm of brain | 9 | |
DOID:4890 | juvenile myoclonic epilepsy | 10 | |
DOID:4844 | ependymoma | 10 | |
DOID:4607 | biliary tract cancer | 10 | |
DOID:4051 | aveolar rhabdomyosarcoma | 10 | |
DOID:381 | arthropathy | 10 | |
DOID:3614 | Kallmann syndrome | 10 | |
DOID:3458 | breast adenocarcinoma | 9 | |
DOID:3454 | brain infarction | 10 | |
DOID:321 | tropical spastic paraparesis | 10 | |
DOID:3179 | inverted papilloma | 10 | |
DOID:285 | hairy cell leukemia | 10 | |
DOID:2528 | myeloid metaplasia | 10 | |
DOID:2186 | macrocephaly | 10 | |
DOID:203 | exostosis | 10 | |
DOID:1678 | chronic interstitial cystitis | 10 | |
DOID:14504 | Niemann-Pick disease | 10 | |
DOID:14203 | childhood type dermatomyositis | 10 | |
DOID:13949 | interstitial cystitis | 10 | |
DOID:13938 | amenorrhea | 10 | |
DOID:13025 | retinopathy of prematurity | 10 | |
DOID:12689 | acoustic neuroma | 9 | |
DOID:1229 | paranoid schizophrenia | 10 | |
DOID:12185 | otosclerosis | 6 | |
DOID:11870 | Pick's disease | 10 | |
DOID:11802 | protein deficiency | 10 | |
DOID:11504 | autonomic neuropathy | 10 | |
DOID:11260 | rabies | 10 | |
DOID:11179 | otitis media with effusion | 10 | |
DOID:10908 | hydrocephalus | 10 | |
DOID:10747 | lymphoid leukemia | 10 | |
DOID:106 | pleural tuberculosis | 10 | |
DOID:0050175 | tick-borne encephalitis | 10 | |
DOID:9976 | heroin dependence | 9 | |
DOID:9651 | systolic heart failure | 9 | |
DOID:9146 | visceral leishmaniasis | 9 | |
DOID:9111 | cutaneous leishmaniasis | 9 | |
DOID:8568 | infectious mononucleosis | 9 | |
DOID:8505 | dermatitis herpetiformis | 8 | |
DOID:718 | autoimmune hemolytic anemia | 9 | |
DOID:700 | mitochondrial disease | 9 | |
DOID:585 | nephrolithiasis | 9 | |
DOID:582 | hemoglobinuria | 8 | |
DOID:5723 | optic atrophy | 7 | |
DOID:5418 | schizoaffective disease | 9 | |
DOID:4927 | Klatskin's tumor | 8 | |
DOID:4535 | hypotrichosis | 9 | |
DOID:4492 | avian influenza | 9 | |
DOID:4449 | macular retinal edema | 9 | |
DOID:4233 | clear cell sarcoma | 9 | |
DOID:3737 | verrucous carcinoma | 9 | |
DOID:3587 | pancreatic ductal carcinoma | 9 | |
DOID:3462 | hamartoma | 9 | |
DOID:3030 | mucinous adenocarcinoma | 8 | |
DOID:2975 | cystic kidney | 9 | |
DOID:2905 | commensal Escherichia coli infectious disease | 8 | |
DOID:2843 | long QT syndrome | 9 | |
DOID:2725 | capillary hemangioma | 9 | |
DOID:2598 | laryngeal neoplasm | 9 | |
DOID:2340 | craniosynostosis | 9 | |
DOID:2316 | brain ischemia | 9 | |
DOID:2187 | amelogenesis imperfecta | 9 | |
DOID:2030 | anxiety disease | 9 | |
DOID:1510 | personality disease | 9 | |
DOID:1498 | cholera | 8 | |
DOID:1440 | Machado-Joseph disease | 8 | |
DOID:14256 | adult-onset Still's disease | 9 | |
DOID:14175 | von Hippel-Lindau disease | 9 | |
DOID:13550 | angle-closure glaucoma | 9 | |
DOID:1339 | Diamond-Blackfan anemia | 9 | |
DOID:13042 | persistent fetal circulation syndrome | 9 | |
DOID:12895 | keratoconjunctivitis sicca | 9 | |
DOID:12678 | hypercalcemia | 9 | |
DOID:12558 | chronic progressive external ophthalmoplegia | 7 | |
DOID:12297 | Vogt-Koyanagi-Harada disease | 6 | |
DOID:11720 | distal muscular dystrophy | 9 | |
DOID:10873 | Kuhnt-Junius degeneration | 9 | |
DOID:10609 | rickets | 9 | |
DOID:10314 | endocarditis | 9 | |
DOID:0060015 | interleukin-7 receptor alpha deficiency | 9 | |
DOID:0050478 | primary Escherichia coli infectious disease | 8 | |
DOID:0050425 | restless legs syndrome | 8 | |
DOID:0050125 | dengue shock syndrome | 9 | |
DOID:0001816 | angiosarcoma | 9 | |
DOID:9965 | toxoplasmosis | 8 | |
DOID:9470 | bacterial meningitis | 8 | |
DOID:9428 | intracranial hypertension | 8 | |
DOID:8761 | megakaryocytic leukemia | 8 | |
DOID:8533 | malignant neoplasm of hypopharynx | 8 | |
DOID:8453 | folic acid deficiency | 8 | |
DOID:8337 | appendicitis | 7 | |
DOID:7400 | Nijmegen Breakage syndrome | 8 | |
DOID:705 | leber hereditary optic atrophy | 4 | |
DOID:65 | connective tissue disease | 6 | |
DOID:5327 | retinal detachment | 8 | |
DOID:5295 | intestinal disease | 8 | |
DOID:5241 | hemangioblastoma | 8 | |
DOID:4977 | lymphedema | 8 | |
DOID:495 | sclerosing hemangioma | 8 | |
DOID:4606 | bile duct cancer | 8 | |
DOID:4465 | papillary renal cell carcinoma | 8 | |
DOID:3974 | medullary carcinoma | 8 | |
DOID:3753 | Hermanski-Pudlak syndrome | 8 | |
DOID:349 | systemic mastocytosis | 8 | |
DOID:3314 | angiomyolipoma | 8 | |
DOID:3307 | teratoma | 8 | |
DOID:3234 | CNS lymphoma | 8 | |
DOID:3042 | allergic contact dermatitis | 8 | |
DOID:2757 | Mycobacterium infectious disease | 8 | |
DOID:2693 | fibroadenoma | 8 | |
DOID:2583 | agammaglobulinemia | 8 | |
DOID:235 | colonic neoplasm | 8 | |
DOID:2321 | dyspepsia | 8 | |
DOID:2283 | keratopathy | 8 | |
DOID:2234 | partial epilepsy | 8 | |
DOID:1949 | cholecystitis | 8 | |
DOID:1932 | Angelman syndrome | 8 | |
DOID:1635 | papillomatosis | 6 | |
DOID:1618 | fibroadenoma of breast | 8 | |
DOID:1496 | echinococcosis | 8 | |
DOID:1407 | anterior uveitis | 8 | |
DOID:13377 | Takayasu's arteritis | 6 | |
DOID:12971 | hereditary spherocytosis | 8 | |
DOID:12556 | acute kidney tubular necrosis | 8 | |
DOID:12466 | secondary hyperparathyroidism | 8 | |
DOID:12351 | alcoholic hepatitis | 8 | |
DOID:12205 | dengue disease | 8 | |
DOID:12155 | lymphocytic choriomeningitis | 8 | |
DOID:12134 | hemophilia A | 8 | |
DOID:11727 | facioscapulohumeral muscular dystrophy | 6 | |
DOID:11695 | portal vein thrombosis | 8 | |
DOID:10844 | Japanese encephalitis | 8 | |
DOID:1080 | filariasis | 8 | |
DOID:10574 | vitamin D deficiency | 8 | |
DOID:10456 | tonsillitis | 8 | |
DOID:10264 | mumps | 8 | |
DOID:10247 | pleurisy | 8 | |
DOID:0060025 | immunoglobulin alpha deficiency | 7 | |
DOID:0050486 | exanthem | 8 | |
DOID:0050474 | Netherton syndrome | 8 | |
DOID:0050457 | Sertoli cell-only syndrome | 8 | |
DOID:0050426 | Stevens-Johnson syndrome | 8 | |
DOID:9983 | chronic bronchitis | 7 | |
DOID:9649 | congenital nystagmus | 6 | |
DOID:9595 | primary ovarian cancer | 7 | |
DOID:9406 | hypopituitarism | 7 | |
DOID:891 | progressive myoclonic epilepsy | 6 | |
DOID:8867 | molluscum contagiosum | 6 | |
DOID:8499 | night blindness | 7 | |
DOID:7486 | metastatic renal cell carcinoma | 7 | |
DOID:680 | tauopathy | 7 | |
DOID:6340 | unipolar depression | 7 | |
DOID:5828 | endometrioid ovary carcinoma | 7 | |
DOID:5810 | adenosine deaminase deficiency | 7 | |
DOID:5773 | oral submucous fibrosis | 6 | |
DOID:5651 | anaplastic carcinoma | 7 | |
DOID:5425 | ovarian hyperstimulation syndrome | 7 | |
DOID:540 | strabismus | 7 | |
DOID:5394 | prolactinoma | 6 | |
DOID:5304 | ovarian clear cell adenocarcinoma | 7 | |
DOID:4988 | alcoholic pancreatitis | 7 | |
DOID:4830 | adenosquamous carcinoma | 7 | |
DOID:480 | movement disease | 7 | |
DOID:44 | tissue disease | 5 | |
DOID:4479 | pseudohypoaldosteronism | 7 | |
DOID:4331 | burning mouth syndrome | 7 | |
DOID:4226 | endometrial stromal sarcoma | 4 | |
DOID:3852 | Peutz-Jeghers syndrome | 7 | |
DOID:3284 | thymic carcinoma | 7 | |
DOID:3191 | nemaline myopathy | 7 | |
DOID:3151 | skin squamous cell carcinoma | 7 | |
DOID:3132 | porphyria cutanea tarda | 7 | |
DOID:3111 | cystadenocarcinoma | 7 | |
DOID:3044 | food allergy | 7 | |
DOID:3012 | Li-Fraumeni syndrome | 7 | |
DOID:2860 | hemoglobinopathy | 6 | |
DOID:2729 | dyskeratosis congenita | 6 | |
DOID:2226 | chronic myeloproliferative disease | 7 | |
DOID:2024 | placental choriocarcinoma | 7 | |
DOID:1934 | dysostosis | 7 | |
DOID:1928 | Williams syndrome | 7 | |
DOID:182 | calcinosis | 6 | |
DOID:1727 | Retinal Vein Occlusion | 7 | |
DOID:169 | neuroendocrine tumor | 7 | |
DOID:1614 | male breast cancer | 7 | |
DOID:13922 | eosinophilic esophagitis | 7 | |
DOID:13832 | patent ductus arteriosus | 7 | |
DOID:13129 | severe pre-eclampsia | 7 | |
DOID:12918 | thromboangiitis obliterans | 7 | |
DOID:12700 | hyperprolactinemia | 7 | |
DOID:12698 | gynecomastia | 7 | |
DOID:1231 | chronic schizophrenia | 7 | |
DOID:12270 | coloboma | 7 | |
DOID:12028 | Conn syndrome | 7 | |
DOID:11986 | familial hypertrophic cardiomyopathy | 7 | |
DOID:11533 | hereditary sensory and autonomic neuropathy | 7 | |
DOID:11294 | arteriovenous malformation | 7 | |
DOID:11199 | hypoparathyroidism | 7 | |
DOID:11193 | syndactyly | 7 | |
DOID:11168 | anogenital venereal wart | 7 | |
DOID:11162 | respiratory failure | 7 | |
DOID:11132 | prostatic hypertrophy | 7 | |
DOID:11031 | bullous keratopathy | 7 | |
DOID:10887 | lepromatous leprosy | 7 | |
DOID:10875 | premature labor | 7 | |
DOID:10772 | thrombotic thrombocytopenic purpura | 7 | |
DOID:10383 | amyotrophic neuralgia | 7 | |
DOID:10320 | asbestosis | 7 | |
DOID:10316 | pneumoconiosis | 6 | |
DOID:0050432 | Asperger syndrome | 7 | |
DOID:988 | mitral valve prolapse | 6 | |
DOID:9834 | hyperopia | 6 | |
DOID:9719 | proliferative vitreoretinopathy | 6 | |
DOID:9478 | postpartum depression | 6 | |
DOID:9420 | chronic myocardial ischemia | 6 | |
DOID:9409 | diabetes insipidus | 6 | |
DOID:9258 | Waardenburg's syndrome | 6 | |
DOID:900 | hepatopulmonary syndrome | 6 | |
DOID:8970 | subacute sclerosing panencephalitis | 6 | |
DOID:8955 | sideroblastic anemia | 6 | |
DOID:893 | hepatolenticular degeneration | 6 | |
DOID:8864 | acute monocytic leukemia | 6 | |
DOID:8639 | alcohol withdrawal delirium | 6 | |
DOID:8557 | malignant neoplasm of oropharynx | 6 | |
DOID:7941 | Barrett's adenocarcinoma | 6 | |
DOID:7004 | corticotroph adenoma | 6 | |
DOID:649 | prion disease | 6 | |
DOID:6204 | follicular adenoma | 6 | |
DOID:615 | leukopenia | 6 | |
DOID:5870 | eosinophilic pneumonia | 6 | |
DOID:5766 | pulmonary sclerosing hemangioma | 6 | |
DOID:559 | acute pyelonephritis | 6 | |
DOID:5572 | Beckwith-Wiedemann syndrome | 4 | |
DOID:5166 | endometrial stromal tumors | 6 | |
DOID:5138 | leiomyomatosis | 6 | |
DOID:4682 | carcinoma of extrahepatic bile duct | 6 | |
DOID:4644 | epidermolysis bullosa simplex | 6 | |
DOID:4610 | intestinal neoplasm | 6 | |
DOID:446 | hyperaldosteronism | 6 | |
DOID:4418 | cutaneous fibrous histiocytoma | 6 | |
DOID:4411 | hepatitis E | 6 | |
DOID:4363 | uterine cancer | 6 | |
DOID:397 | restrictive cardiomyopathy | 6 | |
DOID:3672 | rhabdoid cancer | 6 | |
DOID:3669 | intermittent claudication | 6 | |
DOID:3363 | coronary arteriosclerosis | 6 | |
DOID:3010 | lobular neoplasia | 6 | |
DOID:2962 | Cockayne syndrome | 6 | |
DOID:2559 | opiate addiction | 6 | |
DOID:2392 | glandular cystitis | 5 | |
DOID:2236 | congenital afibrinogenemia | 6 | |
DOID:2058 | chronic mucocutaneous candidiasis | 6 | |
DOID:1856 | cherubism | 6 | |
DOID:1824 | status epilepticus | 6 | |
DOID:1803 | neuritis | 6 | |
DOID:175 | neoplasm in vascular tissue | 6 | |
DOID:1673 | pneumothorax | 6 | |
DOID:14735 | hereditary angioneurotic edema | 6 | |
DOID:14717 | centronuclear myopathy | 6 | |
DOID:14654 | prostatitis | 6 | |
DOID:14447 | gonadal dysgenesis | 5 | |
DOID:14291 | LEOPARD syndrome | 6 | |
DOID:1405 | primary angle-closure glaucoma | 6 | |
DOID:14038 | precocious puberty | 6 | |
DOID:1398 | parasitic infectious disease | 6 | |
DOID:13777 | epidermodysplasia verruciformis | 6 | |
DOID:13139 | crescentic glomerulonephritis | 6 | |
DOID:13099 | Moyamoya disease | 6 | |
DOID:13088 | periventricular leukomalacia | 6 | |
DOID:1270 | hereditary hemorrhagic telangiectasia | 6 | |
DOID:12705 | Friedreich ataxia | 6 | |
DOID:12569 | Chagas cardiomyopathy | 6 | |
DOID:12549 | hepatitis A | 6 | |
DOID:12347 | osteogenesis imperfecta | 6 | |
DOID:12287 | Crimean-Congo hemorrhagic fever | 6 | |
DOID:12241 | beta thalassemia | 5 | |
DOID:12169 | carpal tunnel syndrome | 6 | |
DOID:12053 | cryptococcosis | 6 | |
DOID:11719 | oculopharyngeal muscular dystrophy | 5 | |
DOID:11405 | diphtheria | 6 | |
DOID:10632 | Wolfram syndrome | 6 | |
DOID:1039 | prolymphocytic leukemia | 6 | |
DOID:10155 | intestinal cancer | 6 | |
DOID:10127 | cerebral artery occlusion | 6 | |
DOID:0070001 | neoplastic disease | 6 | |
DOID:0060000 | infective endocarditis | 6 | |
DOID:0050523 | adult T-cell leukemia | 6 | |
DOID:0050451 | Brugada syndrome | 6 | |
DOID:0050440 | familial partial lipodystrophy | 6 | |
DOID:0050073 | invasive pulmonary aspergillosis | 6 | |
DOID:0014667 | disease of metabolism | 6 | |
DOID:9870 | galactosemia | 5 | |
DOID:936 | brain disease | 5 | |
DOID:9281 | phenylketonuria | 5 | |
DOID:905 | Zellweger syndrome | 5 | |
DOID:8886 | chorioretinitis | 5 | |
DOID:8881 | rosacea | 4 | |
DOID:8538 | reticulosarcoma | 5 | |
DOID:8536 | herpes zoster | 5 | |
DOID:8488 | polyhydramnios | 5 | |
DOID:7763 | carcinoma of supraglottis | 5 | |
DOID:7154 | anaplastic oligodendroglioma | 5 | |
DOID:6741 | bilateral breast cancer | 5 | |
DOID:6612 | leukocyte adhesion deficiency | 5 | |
DOID:660 | tumors of adrenal cortex | 5 | |
DOID:6195 | conjunctivitis | 5 | |
DOID:593 | agoraphobia | 5 | |
DOID:5746 | ovarian serous cystadenocarcinoma | 5 | |
DOID:5557 | testicular germ cell cancer | 5 | |
DOID:5374 | pilomatrixoma | 5 | |
DOID:4852 | pleomorphic xanthoastrocytoma | 5 | |
DOID:4398 | pustulosis of palm and sole | 5 | |
DOID:4247 | coronary restenosis | 5 | |
DOID:4239 | alveolar soft part sarcoma | 5 | |
DOID:4236 | carcinosarcoma | 5 | |
DOID:4036 | Helicobacter pylori gastritis | 5 | |
DOID:4019 | apraxia | 5 | |
DOID:3950 | adrenal carcinoma | 5 | |
DOID:3947 | adrenal gland hyperfunction | 5 | |
DOID:3781 | anovulation | 5 | |
DOID:3756 | protein C deficiency | 5 | |
DOID:3721 | plasmacytoma | 5 | |
DOID:369 | olfactory neuroblastoma | 5 | |
DOID:3635 | congenital myasthenic syndrome | 5 | |
DOID:3559 | pseudomyxoma peritonei | 4 | |
DOID:3449 | penis carcinoma | 5 | |
DOID:3407 | carotid artery disease | 5 | |
DOID:3331 | frontal lobe epilepsy | 5 | |
DOID:3304 | germinoma | 5 | |
DOID:3213 | demyelinating disease | 5 | |
DOID:3209 | junctional epidermolysis bullosa | 5 | |
DOID:3144 | cutis laxa | 5 | |
DOID:3078 | anaplastic astrocytoma | 5 | |
DOID:3049 | Churg-Strauss syndrome | 4 | |
DOID:2868 | arterial occlusive disease | 5 | |
DOID:2756 | paratuberculosis | 5 | |
DOID:2739 | Gilbert's syndrome | 4 | |
DOID:2732 | Rothmund-Thomson syndrome | 5 | |
DOID:2632 | papillary serous adenocarcinoma | 5 | |
DOID:2527 | nephrosis | 5 | |
DOID:2320 | obstructive lung disease | 5 | |
DOID:227 | ankylosis | 5 | |
DOID:1987 | fetal disease | 5 | |
DOID:1781 | thyroid neoplasm | 5 | |
DOID:1762 | cheilitis | 5 | |
DOID:1699 | congenital ichthyosiform erythroderma | 5 | |
DOID:1695 | congenital ichthyosis | 5 | |
DOID:1657 | ventricular septal defect | 5 | |
DOID:1602 | lymphadenitis | 5 | |
DOID:14512 | cutaneous candidiasis | 5 | |
DOID:14323 | marfan syndrome | 5 | |
DOID:14261 | fragile X syndrome | 5 | |
DOID:13906 | malignant pleural effusion | 5 | |
DOID:1354 | paranasal sinus carcinoma | 5 | |
DOID:13371 | scrub typhus | 5 | |
DOID:12995 | conduct disease | 5 | |
DOID:12950 | Shigella flexneri infectious disease | 5 | |
DOID:12785 | diabetic polyneuropathy | 5 | |
DOID:12679 | nephrocalcinosis | 5 | |
DOID:11730 | Borrelia infectious disease | 5 | |
DOID:11726 | Emery-Dreifuss muscular dystrophy | 5 | |
DOID:11717 | neonatal diabetes mellitus | 5 | |
DOID:11433 | middle ear cholesteatoma | 5 | |
DOID:11338 | tetanus | 5 | |
DOID:1097 | hydrops fetalis | 4 | |
DOID:1085 | trisomy 18 | 5 | |
DOID:10605 | short bowel syndrome | 5 | |
DOID:10310 | viral meningitis | 5 | |
DOID:0050469 | Costello syndrome | 5 | |
DOID:0050453 | lissencephaly | 5 | |
DOID:0050449 | pachyonychia congenita | 5 | |
DOID:0050431 | arrhythmogenic right ventricular dysplasia | 5 | |
DOID:0050332 | large vestibular aqueduct | 5 | |
DOID:0050012 | chikungunya | 5 | |
DOID:990 | atrioventricular block | 4 | |
DOID:9835 | refractive error | 4 | |
DOID:9682 | yellow fever | 4 | |
DOID:9663 | aphthous stomatitis | 4 | |
DOID:9584 | Venezuelan equine encephalitis | 4 | |
DOID:9451 | alcoholic fatty liver | 4 | |
DOID:9297 | lip disease | 4 | |
DOID:9263 | homocystinuria | 4 | |
DOID:874 | bacterial pneumonia | 4 | |
DOID:8683 | myeloid sarcoma | 4 | |
DOID:8586 | dysplasia of cervix | 4 | |
DOID:853 | polymyalgia rheumatica | 4 | |
DOID:8472 | localized scleroderma | 4 | |
DOID:8205 | alloimmunization | 4 | |
DOID:799 | varicosity | 4 | |
DOID:7607 | chief cell adenoma | 4 | |
DOID:7334 | nephrogenic adenoma | 4 | |
DOID:668 | myositis ossificans | 4 | |
DOID:6688 | Canale-Smith syndrome | 4 | |
DOID:6658 | large cell neuroendocrine carcinoma of lung | 4 | |
DOID:5928 | autosomal recessive polycystic kidney | 4 | |
DOID:57 | aortic valve insufficiency | 4 | |
DOID:54 | aortic incompetence | 4 | |
DOID:5199 | ureteral obstruction | 4 | |
DOID:5160 | arteriosclerosis obliterans | 4 | |
DOID:5119 | ovarian cyst | 4 | |
DOID:5113 | nutritional deficiency disease | 4 | |
DOID:4959 | epidermolysis bullosa dystrophica | 4 | |
DOID:4943 | adenocarcinoma In situ | 4 | |
DOID:4857 | diffuse astrocytoma | 4 | |
DOID:483 | cavernous hemangioma | 4 | |
DOID:4677 | keratitis | 4 | |
DOID:4464 | collecting duct carcinoma | 4 | |
DOID:440 | neuromuscular disease | 4 | |
DOID:4359 | amelanotic melanoma | 4 | |
DOID:4254 | osteosclerosis | 4 | |
DOID:4173 | disseminated neuroblastoma | 4 | |
DOID:4163 | ganglioneuroblastoma | 4 | |
DOID:3878 | intestinal pseudo-obstruction | 4 | |
DOID:384 | Wolff-Parkinson-White syndrome | 4 | |
DOID:3748 | esophagus squamous cell carcinoma | 4 | |
DOID:3683 | lung neoplasm | 4 | |
DOID:3305 | teratocarcinoma | 4 | |
DOID:3299 | Yersinia pseudotuberculosis infectious disease | 4 | |
DOID:3223 | complex regional pain syndrome | 4 | |
DOID:3166 | leukemoid reaction | 4 | |
DOID:3076 | adult astrocytic tumour | 4 | |
DOID:2998 | testicular neoplasm | 4 | |
DOID:2960 | IBIDS syndrome | 4 | |
DOID:2929 | Newcastle disease | 4 | |
DOID:2920 | membranoproliferative glomerulonephritis | 4 | |
DOID:2752 | glycogen storage disease type II | 4 | |
DOID:2660 | cystic teratoma | 4 | |
DOID:2658 | dermoid cyst | 4 | |
DOID:2622 | neuroblastic tumor | 4 | |
DOID:2477 | motor periferal neuropathy | 4 | |
DOID:2411 | granular cell tumor | 4 | |
DOID:2394 | ovarian neoplasm | 4 | |
DOID:2297 | leptospirosis | 4 | |
DOID:2224 | hemorrhagic thrombocythemia | 4 | |
DOID:2218 | blood platelet disease | 4 | |
DOID:1996 | rectum adenocarcinoma | 4 | |
DOID:1837 | diabetic ketoacidosis | 4 | |
DOID:1754 | mitral valve stenosis | 4 | |
DOID:14686 | Rieger syndrome | 4 | |
DOID:14464 | neuroleptic malignant syndrome | 4 | |
DOID:14320 | generalized anxiety disease | 4 | |
DOID:14219 | renal tubular acidosis | 4 | |
DOID:1414 | ovarian dysfunction | 4 | |
DOID:14095 | boutonneuse fever | 4 | |
DOID:13911 | achromatopsia | 4 | |
DOID:1390 | hypobetalipoproteinemia | 4 | |
DOID:1388 | Tangier disease | 4 | |
DOID:1338 | congenital dyserythropoietic anemia | 4 | |
DOID:13382 | megaloblastic anemia | 4 | |
DOID:13372 | alpha 1-antitrypsin deficiency | 4 | |
DOID:13336 | congenital toxoplasmosis | 4 | |
DOID:12978 | Plasmodium vivax malaria | 4 | |
DOID:12721 | multiple epiphyseal dysplasia | 4 | |
DOID:12662 | paracoccidioidomycosis | 4 | |
DOID:12583 | velo-cardio-facial syndrome | 4 | |
DOID:12271 | aniridia | 4 | |
DOID:12215 | oligohydramnios | 4 | |
DOID:12148 | alveolar echinococcosis | 4 | |
DOID:1210 | optic neuritis | 4 | |
DOID:11589 | Riley-Day syndrome | 4 | |
DOID:11512 | hepatic vein thrombosis | 4 | |
DOID:11502 | mitral valve insufficiency | 4 | |
DOID:11252 | microcytic anemia | 4 | |
DOID:11204 | allergic conjunctivitis | 4 | |
DOID:11111 | hydronephrosis | 4 | |
DOID:11104 | spotted fever | 4 | |
DOID:1091 | tooth disease | 4 | |
DOID:10824 | malignant hypertension | 4 | |
DOID:10573 | osteomalacia | 4 | |
DOID:10485 | esophageal atresia | 4 | |
DOID:10457 | Legionnaires' disease | 4 | |
DOID:10303 | sialadenitis | 4 | |
DOID:10230 | aortic atherosclerosis | 4 | |
DOID:10128 | venous insufficiency | 4 | |
DOID:0060010 | Omenn syndrome | 4 | |
DOID:0050459 | hyperphosphatemia | 4 | |
DOID:0050452 | mevalonic aciduria | 4 | |
DOID:0050336 | hypophosphatemia | 4 | |
DOID:0050325 | genetic disorder | 4 |
ID | Description | # Genes | Add |
---|---|---|---|
DOID:0080169 | Tricuspid atresia | 6 | |
DOID:0050556 | Infantile onset spinocerebellar ataxia | 6 | |
DOID:2729 | Dyskeratosis congenita | 26 | |
DOID:0080162 | Lupus nephritis | 7 | |
DOID:2723 | Dermatitis | 99 | |
DOID:11165 | Common wart | 5 | |
DOID:14181 | Calcific tendinitis | 8 | |
DOID:936 | Brain disease | 92 | |
DOID:13452 | Scleritis | 6 | |
DOID:13450 | Coccidioidomycosis | 5 | |
DOID:14188 | Frozen shoulder | 4 | |
DOID:0050083 | Keshan disease | 17 | |
DOID:3127 | Proctitis | 7 | |
DOID:0060870 | Isolated growth hormone deficiency | 25 | |
DOID:3122 | Gastric outlet obstruction | 7 | |
DOID:8437 | Intestinal obstruction | 15 | |
DOID:0060879 | Primary hypomagnesemia | 7 | |
DOID:0060878 | hypoparathyroidism-deafness-renal disease syndrome | 4 | |
DOID:14443 | Cholinergic urticaria | 5 | |
DOID:2725 | Capillary hemangioma | 14 | |
DOID:11379 | Gnathomiasis | 5 | |
DOID:643 | Progressive multifocal leukoencephalopathy | 25 | |
DOID:2615 | Papilloma | 18 | |
DOID:0060765 | Autosomal dominant Robinow syndrome 2 | 21 | |
DOID:0110282 | Autosomal recessive limb-girdle muscular dystrophy type 2H | 6 | |
DOID:8704 | Genital herpes | 10 | |
DOID:14289 | Ebstein anomaly | 14 | |
DOID:11573 | Listeriosis | 15 | |
DOID:3234 | Central nervous system lymphoma | 6 | |
DOID:0110737 | Neurodegeneration with brain iron accumulation 3 | 7 | |
DOID:0110734 | Neurodegeneration with brain iron accumulation | 21 | |
DOID:0110739 | Neurodegeneration with brain iron accumulation 5 | 7 | |
DOID:8943 | Lattice corneal dystrophy | 7 | |
DOID:3733 | Theileriasis | 13 | |
DOID:8947 | Diabetic retinopathy | 47 | |
DOID:0110515 | Autosomal recessive nonsyndromic deafness 63 | 8 | |
DOID:11213 | Acute contagious conjunctivitis | 6 | |
DOID:10348 | Blepharophimosis | 16 | |
DOID:14330 | Parkinson's disease | 212 | |
DOID:811 | Lipodystrophy | 29 | |
DOID:615 | Leukopenia | 39 | |
DOID:614 | Lymphopenia | 29 | |
DOID:613 | T lymphocyte deficiency | 7 | |
DOID:612 | Primary immunodeficiency disease | 29 | |
DOID:2055 | post-traumatic stress disorder | 38 | |
DOID:8893 | Psoriasis | 129 | |
DOID:11502 | Mitral valve insufficiency | 17 | |
DOID:8544 | Chronic fatigue syndrome | 24 | |
DOID:8545 | Malignant hyperthermia | 24 | |
DOID:0110358 | Retinitis pigmentosa 12 | 8 | |
DOID:8541 | Sezary's disease | 8 | |
DOID:0060163 | Body dysmorphic disorder | 11 | |
DOID:0110356 | Retinitis pigmentosa 18 | 16 | |
DOID:0110352 | Retinitis pigmentosa 59 | 10 | |
DOID:819 | Mediastinitis | 6 | |
DOID:0060877 | Ichthyosis bullosa of Siemens | 4 | |
DOID:11457 | Brain compression | 4 | |
DOID:13608 | Biliary atresia | 9 | |
DOID:11101 | Trench fever | 4 | |
DOID:11100 | Q fever | 9 | |
DOID:11105 | Fundus albipunctatus | 8 | |
DOID:1625 | Breast adenoma | 4 | |
DOID:10983 | Alport syndrome | 20 | |
DOID:0060447 | Epithelial basement membrane dystrophy | 5 | |
DOID:0060872 | Isolated growth hormone deficiency type II | 4 | |
DOID:0060062 | Familial juvenile hyperuricemic nephropathy | 5 | |
DOID:0060063 | X-linked sideroblastic anemia | 4 | |
DOID:0060067 | Pearson syndrome | 17 | |
DOID:0060064 | Sideroblastic anemia with spinocerebellar ataxia | 6 | |
DOID:7489 | Osgood-Schlatter's disease | 5 | |
DOID:6620 | X-linked hyper IgM syndrome | 4 | |
DOID:0060649 | Congenital hereditary endothelial dystrophy of cornea | 9 | |
DOID:1394 | Urinary schistosomiasis | 4 | |
DOID:0060643 | Primary sclerosing cholangitis | 9 | |
DOID:0060640 | Ethylmalonic encephalopathy | 12 | |
DOID:10965 | Spastic diplegia | 5 | |
DOID:9840 | Esotropia | 10 | |
DOID:9849 | Meniere's disease | 20 | |
DOID:0060248 | Simpson-Golabi-Behmel syndrome | 16 | |
DOID:0060249 | Scoliosis | 41 | |
DOID:0060246 | MASA syndrome | 7 | |
DOID:14515 | WAGR syndrome | 10 | |
DOID:12721 | Multiple epiphyseal dysplasia | 14 | |
DOID:0060243 | Stuttering | 16 | |
DOID:0060240 | UV-sensitive syndrome | 8 | |
DOID:0060241 | 3-M syndrome | 14 | |
DOID:0090015 | Cenani-Lenz syndactyly syndrome | 4 | |
DOID:0090019 | Sitosterolemia | 8 | |
DOID:1570 | Ectropion | 19 | |
DOID:1572 | Normal pressure hydrocephalus | 7 | |
DOID:1574 | Alcohol abuse | 7 | |
DOID:1575 | Rheumatic disease | 8 | |
DOID:11963 | Esophagitis | 19 | |
DOID:1080 | Filariasis | 20 | |
DOID:1085 | Edwards syndrome | 13 | |
DOID:1088 | Meningocele | 7 | |
DOID:9931 | Waterhouse-Friderichsen syndrome | 12 | |
DOID:0050581 | Brachydactyly | 48 | |
DOID:12466 | Secondary hyperparathyroidism | 4 | |
DOID:9446 | Cholangitis | 24 | |
DOID:0060484 | EAST syndrome | 9 | |
DOID:0060485 | Mowat-Wilson syndrome | 11 | |
DOID:0060480 | Left ventricular noncompaction | 23 | |
DOID:0060481 | Goldberg-Shprintzen syndrome | 6 | |
DOID:0060482 | Oculoauricular syndrome | 6 | |
DOID:0060483 | MEDNIK syndrome | 7 | |
DOID:1156 | Chondrocalcinosis | 7 | |
DOID:1405 | Primary angle-closure glaucoma | 14 | |
DOID:321 | Tropical spastic paraparesis | 15 | |
DOID:0060488 | Pitt-Hopkins syndrome | 17 | |
DOID:0050332 | Enlarged vestibular aqueduct | 11 | |
DOID:0050335 | Bradyopsia | 10 | |
DOID:1882 | Atrial heart septal defect | 18 | |
DOID:1883 | Hepatitis C | 71 | |
DOID:11816 | Vitreous syneresis | 5 | |
DOID:13929 | Lacrimal duct obstruction | 6 | |
DOID:327 | Syringomyelia | 12 | |
DOID:0050336 | Hypophosphatemia | 29 | |
DOID:2366 | West Nile fever | 7 | |
DOID:13186 | Megaesophagus | 5 | |
DOID:13189 | Gout | 53 | |
DOID:9622 | Kidney hypertrophy | 4 | |
DOID:5386 | Lung adenoma | 8 | |
DOID:4724 | Brain edema | 15 | |
DOID:4890 | Juvenile myoclonic epilepsy | 21 | |
DOID:4723 | Intracranial hypotension | 9 | |
DOID:5389 | Oxyphilic adenoma | 21 | |
DOID:859 | Holocarboxylase synthetase deficiency | 6 | |
DOID:0050879 | Fragile X-associated tremor/ataxia syndrome | 5 | |
DOID:2256 | Osteochondrodysplasia | 7 | |
DOID:850 | Lung disease | 129 | |
DOID:853 | Polymyalgia rheumatica | 4 | |
DOID:0050871 | Fibroma | 13 | |
DOID:0050876 | Caroli disease | 8 | |
DOID:854 | Collagen disease | 27 | |
DOID:857 | Multiple carboxylase deficiency | 6 | |
DOID:856 | Biotinidase deficiency | 14 | |
DOID:10507 | Dressler's syndrome | 7 | |
DOID:5419 | Schizophrenia | 274 | |
DOID:5418 | Schizoaffective disorder | 31 | |
DOID:0050476 | Barth syndrome | 24 | |
DOID:0050477 | Liddle syndrome | 12 | |
DOID:0050474 | Netherton syndrome | 13 | |
DOID:0050475 | Weill-Marchesani syndrome | 14 | |
DOID:0050472 | Monilethrix | 16 | |
DOID:0050473 | Alstrom syndrome | 4 | |
DOID:0050470 | Donohue syndrome | 6 | |
DOID:0050471 | Carney complex | 22 | |
DOID:12287 | Crimean-Congo hemorrhagic fever | 9 | |
DOID:589 | Congenital hemolytic anemia | 30 | |
DOID:3827 | Congenital diaphragmatic hernia | 30 | |
DOID:3829 | Pituitary adenoma | 30 | |
DOID:585 | Nephrolithiasis | 28 | |
DOID:583 | Hemolytic anemia | 46 | |
DOID:4271 | Microsporidiosis | 11 | |
DOID:11589 | Riley-Day syndrome | 11 | |
DOID:580 | Acute urate nephropathy | 6 | |
DOID:4078 | Tricuspid valve stenosis | 4 | |
DOID:0080038 | Pycnodysostosis | 6 | |
DOID:11371 | Functional diarrhea | 4 | |
DOID:10610 | Pancreatic steatorrhea | 6 | |
DOID:10611 | protein-losing enteropathy | 13 | |
DOID:4071 | Duodenogastric reflux | 8 | |
DOID:13523 | Loiasis | 4 | |
DOID:13521 | Tetanus neonatorum | 5 | |
DOID:2755 | Mycobacterium avium complex disease | 4 | |
DOID:12132 | Wegener's granulomatosis | 10 | |
DOID:3488 | Cellulitis | 12 | |
DOID:12134 | Factor VIII deficiency | 10 | |
DOID:12139 | Dysthymic disorder | 12 | |
DOID:3482 | Plague | 15 | |
DOID:2283 | Keratopathy | 11 | |
DOID:2280 | Hidradenitis suppurativa | 13 | |
DOID:2998 | Testicular cancer | 12 | |
DOID:2449 | Acromegaly | 30 | |
DOID:13620 | Patent foramen ovale | 9 | |
DOID:8398 | Osteoarthritis | 90 | |
DOID:0060802 | Syndromic X-linked intellectual disability Snyder type | 20 | |
DOID:3132 | Porphyria cutanea tarda | 11 | |
DOID:14115 | Toxic shock syndrome | 24 | |
DOID:10762 | Portal hypertension | 19 | |
DOID:10763 | Hypertension | 292 | |
DOID:2848 | Melancholia | 9 | |
DOID:3230 | High pressure neurological syndrome | 9 | |
DOID:2846 | Bruxism | 15 | |
DOID:2841 | Asthma | 258 | |
DOID:2843 | Long QT syndrome | 32 | |
DOID:2661 | Myoepithelioma | 13 | |
DOID:11367 | Congenital aphakia | 6 | |
DOID:11364 | Lens subluxation | 13 | |
DOID:11360 | Phlebotomus fever | 6 | |
DOID:14049 | Phaeohyphomycosis | 7 | |
DOID:3687 | MELAS syndrome | 5 | |
DOID:0110733 | Neuronal ceroid lipofuscinosis 9 | 5 | |
DOID:0110724 | Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 5 | |
DOID:0110726 | Neuronal ceroid lipofuscinosis 2 | 13 | |
DOID:0110721 | Neuronal ceroid lipofuscinosis 1 | 13 | |
DOID:3227 | Tracheal stenosis | 15 | |
DOID:11504 | Autonomic neuropathy | 23 | |
DOID:8712 | Neurofibromatosis | 39 | |
DOID:7725 | Epilepsy with generalized tonic-clonic seizures | 4 | |
DOID:2710 | Sick building syndrome | 7 | |
DOID:13207 | Proliferative diabetic retinopathy | 4 | |
DOID:8970 | Subacute sclerosing panencephalitis | 10 | |
DOID:620 | Blood protein disease | 10 | |
DOID:626 | Complement deficiency | 12 | |
DOID:627 | Severe combined immunodeficiency | 46 | |
DOID:0110066 | Amelogenesis imperfecta type 1G | 10 | |
DOID:0050242 | Primary amebic meningoencephalitis | 5 | |
DOID:2065 | Syringoma | 11 | |
DOID:13884 | Sick sinus syndrome | 13 | |
DOID:0060104 | Cerebellar medulloblastoma | 4 | |
DOID:0060108 | Brain glioma | 5 | |
DOID:8577 | Ulcerative colitis | 79 | |
DOID:50 | Thyroid gland disease | 4 | |
DOID:57 | Aortic valve insufficiency | 11 | |
DOID:0060768 | Smith-Magenis syndrome | 27 | |
DOID:13366 | Stiff-Person syndrome | 11 | |
DOID:14452 | Hypokalemic periodic paralysis | 11 | |
DOID:14451 | Hyperkalemic periodic paralysis | 9 | |
DOID:9955 | Hypoplastic left heart syndrome | 4 | |
DOID:12603 | Acute leukemia | 4 | |
DOID:0060075 | estrogen-receptor positive breast cancer | 6 | |
DOID:0060074 | Ductal carcinoma in situ | 17 | |
DOID:10283 | Prostate cancer | 125 | |
DOID:0060655 | Autosomal recessive congenital ichthyosis | 11 | |
DOID:0060651 | MYH-9 related disease | 11 | |
DOID:0060650 | Dicarboxylic aminoaciduria | 4 | |
DOID:10970 | Spastic quadriplegia | 5 | |
DOID:11247 | Disseminated intravascular coagulation | 28 | |
DOID:10974 | Oophoritis | 8 | |
DOID:10976 | Membranous glomerulonephritis | 6 | |
DOID:0060259 | renal-hepatic-pancreatic dysplasia | 7 | |
DOID:0060258 | Reticulate acropigmentation of Kitamura | 8 | |
DOID:1768 | Conversion disorder | 6 | |
DOID:0060251 | Sclerosteosis | 7 | |
DOID:0060250 | Idiopathic scoliosis | 27 | |
DOID:0060253 | Scapuloperoneal myopathy | 5 | |
DOID:0060252 | Sclerocornea | 17 | |
DOID:0060255 | Rippling muscle disease | 5 | |
DOID:0060254 | Robinow syndrome | 9 | |
DOID:0060256 | Dowling-Degos disease | 7 | |
DOID:0090007 | immunodeficiency-centromeric instability-facial anomalies syndrome | 15 | |
DOID:0090006 | Renal coloboma syndrome | 4 | |
DOID:0090003 | Agenesis of the corpus callosum with peripheral neuropathy | 5 | |
DOID:0090002 | Tietz syndrome | 5 | |
DOID:0090001 | Fraser syndrome | 10 | |
DOID:1584 | Acute chest syndrome | 9 | |
DOID:1586 | Rheumatic fever | 17 | |
DOID:12904 | Mucocele of salivary gland | 5 | |
DOID:1508 | Candidiasis | 50 | |
DOID:0050289 | Fusariosis | 6 | |
DOID:9946 | steroid-induced glaucoma | 8 | |
DOID:12450 | Pancytopenia | 7 | |
DOID:0060497 | Pollen allergy | 6 | |
DOID:1166 | Palindromic rheumatism | 4 | |
DOID:318 | Progressive muscular atrophy | 7 | |
DOID:0060490 | Schimke immuno-osseous dysplasia | 7 | |
DOID:1168 | Familial hyperlipidemia | 4 | |
DOID:5138 | Leiomyomatosis | 6 | |
DOID:0060499 | Autoimmune neuropathy | 7 | |
DOID:14679 | VACTERL association | 23 | |
DOID:10426 | Klippel-Feil syndrome | 13 | |
DOID:4664 | Filamentary keratitis | 5 | |
DOID:4661 | Multiple chemical sensitivity | 4 | |
DOID:2368 | Gangliosidosis | 19 | |
DOID:1214 | Tympanosclerosis | 4 | |
DOID:11823 | Hepatorenal syndrome | 4 | |
DOID:2112 | Cystoisosporiasis | 4 | |
DOID:0060236 | Xanthinuria | 8 | |
DOID:1184 | Nephrotic syndrome | 18 | |
DOID:9383 | Iridocyclitis | 5 | |
DOID:0050605 | Acrodermatitis enteropathica | 17 | |
DOID:0050601 | ADULT syndrome | 8 | |
DOID:0050602 | triple-A syndrome | 15 | |
DOID:4329 | Erdheim-Chester disease | 7 | |
DOID:4866 | Salivary gland adenoid cystic carcinoma | 6 | |
DOID:14702 | Branchiootorenal syndrome | 8 | |
DOID:14701 | Propionic acidemia | 15 | |
DOID:9368 | Keratoconjunctivitis | 11 | |
DOID:3721 | Plasmacytoma | 5 | |
DOID:0050866 | Oral squamous cell carcinoma | 9 | |
DOID:0050861 | Colorectal adenocarcinoma | 5 | |
DOID:0050860 | Colorectal adenoma | 12 | |
DOID:824 | Periodontitis | 42 | |
DOID:9362 | Status asthmaticus | 5 | |
DOID:0050868 | Hepatocellular adenoma | 4 | |
DOID:1984 | Rectal neoplasm | 6 | |
DOID:5408 | Paget's disease of bone | 20 | |
DOID:0050469 | Costello syndrome | 15 | |
DOID:13088 | Periventricular leukomalacia | 6 | |
DOID:0050461 | Aspartylglucosaminuria | 5 | |
DOID:0050460 | Wolf-Hirschhorn syndrome | 29 | |
DOID:0050463 | Campomelic dysplasia | 7 | |
DOID:0050462 | Antley-Bixler syndrome | 15 | |
DOID:0050464 | Farber lipogranulomatosis | 7 | |
DOID:0050467 | Erythrokeratodermia variabilis | 10 | |
DOID:0050466 | Loeys-Dietz syndrome | 21 | |
DOID:10236 | Exhibitionism | 7 | |
DOID:9091 | REM sleep behavior disorder | 13 | |
DOID:0110359 | Retinitis pigmentosa 67 | 4 | |
DOID:3857 | Large cell medulloblastoma | 4 | |
DOID:3852 | Peutz-Jeghers syndrome | 17 | |
DOID:11771 | Spontaneous ocular nystagmus | 4 | |
DOID:10609 | Rickets | 39 | |
DOID:10608 | Celiac disease | 58 | |
DOID:10607 | Tropical sprue | 5 | |
DOID:10605 | Short bowel syndrome | 16 | |
DOID:10604 | Lactose intolerance | 7 | |
DOID:10602 | Steatorrhea | 20 | |
DOID:10600 | Chronic tic disorder | 7 | |
DOID:0110700 | Hypotrichosis 3 | 5 | |
DOID:9169 | Wiskott-Aldrich syndrome | 26 | |
DOID:4448 | Macular degeneration | 32 | |
DOID:12143 | Neurogenic bladder | 15 | |
DOID:12140 | Chagas disease | 34 | |
DOID:4441 | Dysgerminoma | 4 | |
DOID:4440 | Seminoma | 8 | |
DOID:4447 | Cystoid macular edema | 6 | |
DOID:12148 | Alveolar echinococcosis | 10 | |
DOID:9164 | Achalasia | 12 | |
DOID:2297 | Leptospirosis | 18 | |
DOID:4449 | Macular retinal edema | 13 | |
DOID:11486 | Horner's syndrome | 11 | |
DOID:611 | leukocyte-adhesion deficiency syndrome | 7 | |
DOID:11481 | Constrictive pericarditis | 5 | |
DOID:2452 | Thrombophilia | 30 | |
DOID:2451 | Protein S deficiency | 5 | |
DOID:950 | Dacryoadenitis | 10 | |
DOID:483 | Cavernous hemangioma | 11 | |
DOID:480 | Movement disease | 9 | |
DOID:2987 | Familial Mediterranean fever | 11 | |
DOID:2988 | Antiphospholipid syndrome | 17 | |
DOID:13431 | Bejel | 6 | |
DOID:3454 | Brain infarction | 5 | |
DOID:3457 | Invasive lobular carcinoma | 5 | |
DOID:10772 | Thrombotic thrombocytopenic purpura | 15 | |
DOID:8411 | Kidney angiomyolipoma | 8 | |
DOID:0060814 | Wilson-Turner syndrome | 11 | |
DOID:10778 | fiedler's myocarditis | 4 | |
DOID:0060213 | FTDALS1 | 4 | |
DOID:0060856 | Right atrial isomerism | 26 | |
DOID:2856 | Euthyroid sick syndrome | 5 | |
DOID:2855 | Hyperthyroxinemia | 8 | |
DOID:0050771 | Phaeochromocytoma | 19 | |
DOID:12858 | Huntington's disease | 75 | |
DOID:12859 | Choreatic disease | 28 | |
DOID:12236 | Primary biliary cirrhosis | 36 | |
DOID:2187 | Amelogenesis imperfecta | 26 | |
DOID:10754 | Otitis media | 29 | |
DOID:11396 | Pulmonary edema | 10 | |
DOID:2673 | Cystic nephroma | 5 | |
DOID:2671 | Transitional cell carcinoma | 10 | |
DOID:2679 | Dysembryoplastic neuroepithelial tumor | 7 | |
DOID:1657 | Ventricular septal defect | 10 | |
DOID:13725 | Beriberi | 12 | |
DOID:13724 | Scurvy | 8 | |
DOID:11554 | Chandler syndrome | 6 | |
DOID:11555 | Fuchs' endothelial dystrophy | 24 | |
DOID:552 | Pneumonia | 66 | |
DOID:14070 | Vestibular nystagmus | 6 | |
DOID:3211 | Lysosomal storage disease | 10 | |
DOID:557 | Kidney disease | 375 | |
DOID:4434 | Small intestine neuroendocrine neoplasm | 4 | |
DOID:0050779 | Hydrolethalus syndrome | 14 | |
DOID:4534 | Hallermann-Streiff syndrome | 7 | |
DOID:0060773 | Cleft lip-palate-ectodermal dysplasia syndrome | 8 | |
DOID:7223 | Breast giant fibroadenoma | 4 | |
DOID:635 | Acquired immunodeficiency syndrome | 76 | |
DOID:10361 | Eosinophilic meningitis | 4 | |
DOID:636 | Central pontine myelinolysis | 6 | |
DOID:631 | Fibromyalgia | 18 | |
DOID:633 | Myositis | 23 | |
DOID:2074 | Intestinal perforation | 4 | |
DOID:639 | Acute disseminated encephalomyelitis | 8 | |
DOID:12929 | Endocardial fibroelastosis | 4 | |
DOID:8568 | Infectious mononucleosis | 14 | |
DOID:2272 | Vulvovaginal candidiasis | 5 | |
DOID:2273 | Vulvovaginitis | 5 | |
DOID:8566 | Herpes simplex | 18 | |
DOID:8567 | Hodgkin's lymphoma | 14 | |
DOID:2275 | Pharyngitis | 16 | |
DOID:0110378 | Retinitis pigmentosa 29 | 6 | |
DOID:0110372 | Retinitis pigmentosa 4 | 34 | |
DOID:3324 | Mood disorder | 5 | |
DOID:11104 | Spotted fever | 8 | |
DOID:0110377 | Retinitis pigmentosa 49 | 13 | |
DOID:1272 | Telangiectasis | 20 | |
DOID:0110408 | Retinitis pigmentosa 11 | 48 | |
DOID:0090060 | Wolcott-Rallison syndrome | 10 | |
DOID:0110404 | Retinitis pigmentosa 17 | 6 | |
DOID:0110403 | Retinitis pigmentosa 13 | 9 | |
DOID:12639 | Pyloric stenosis | 8 | |
DOID:14448 | 46 XY gonadal dysgenesis | 10 | |
DOID:0060390 | Distal 10q deletion syndrome | 5 | |
DOID:0060391 | Chromosome 13q14 deletion syndrome | 4 | |
DOID:14447 | Gonadal dysgenesis | 9 | |
DOID:0060395 | Chromosome 15q24 deletion syndrome | 12 | |
DOID:127 | Leiomyoma | 27 | |
DOID:11162 | Respiratory failure | 31 | |
DOID:6193 | Epithelioid sarcoma | 4 | |
DOID:0060009 | MHC class I deficiency | 5 | |
DOID:6196 | Reactive arthritis | 7 | |
DOID:6195 | Conjunctivitis | 17 | |
DOID:0060001 | Withdrawal disorder | 18 | |
DOID:0060002 | C1 inhibitor deficiency | 8 | |
DOID:14284 | Patellofemoral pain syndrome | 8 | |
DOID:13949 | Interstitial cystitis | 16 | |
DOID:3382 | Liposarcoma | 5 | |
DOID:13941 | Benign paroxysmal positional nystagmus | 11 | |
DOID:2702 | Pigmented villonodular synovitis | 9 | |
DOID:0050578 | Occult macular dystrophy | 7 | |
DOID:13945 | Cadasil | 8 | |
DOID:1373 | Endometrial stromal nodule | 9 | |
DOID:0060747 | Duane-radial ray syndrome | 7 | |
DOID:10941 | Intracranial aneurysm | 17 | |
DOID:0110390 | Retinitis pigmentosa 1 | 4 | |
DOID:0060745 | Doyne honeycomb retinal dystrophy | 8 | |
DOID:12704 | Ataxia telangiectasia | 31 | |
DOID:12705 | Friedreich ataxia | 24 | |
DOID:9072 | Lethal midline granuloma | 4 | |
DOID:12700 | Hyperprolactinemia | 17 | |
DOID:1770 | Toxic megacolon | 5 | |
DOID:0050797 | Peroxisomal acyl-CoA oxidase deficiency | 4 | |
DOID:0060713 | Autosomal recessive congenital ichthyosis 4B | 12 | |
DOID:10383 | Amyotrophic neuralgia | 12 | |
DOID:0110765 | Hereditary spastic paraplegia 12 | 4 | |
DOID:3981 | Pantothenate kinase-associated neurodegeneration | 11 | |
DOID:0050794 | Multiple synostoses syndrome | 9 | |
DOID:0060538 | Purpura fulminans | 8 | |
DOID:1510 | Personality disorder | 24 | |
DOID:14004 | Thoracic aortic aneurysm | 12 | |
DOID:0060535 | Warsaw breakage syndrome | 8 | |
DOID:0060536 | Mitochondrial complex I deficiency | 39 | |
DOID:0060537 | Mitochondrial complex II deficiency | 5 | |
DOID:12449 | Aplastic anemia | 6 | |
DOID:3633 | beta-mannosidosis | 8 | |
DOID:9958 | Hemometra | 6 | |
DOID:9957 | Periostitis | 5 | |
DOID:9952 | Acute lymphocytic leukemia | 19 | |
DOID:0050072 | Adiaspiromycosis | 4 | |
DOID:0050073 | Invasive aspergillosis | 6 | |
DOID:9428 | Intracranial hypertension | 7 | |
DOID:0060858 | hypotonia-cystinuria syndrome | 6 | |
DOID:9423 | Blepharitis | 6 | |
DOID:303 | substance-related disorder | 33 | |
DOID:302 | Substance abuse | 51 | |
DOID:305 | Carcinoma | 41 | |
DOID:308 | Early myoclonic encephalopathy | 12 | |
DOID:14669 | Acrodysostosis | 8 | |
DOID:11832 | Visual epilepsy | 4 | |
DOID:11831 | Cortical blindness | 14 | |
DOID:11830 | Myopia | 77 | |
DOID:11836 | Clubfoot | 35 | |
DOID:0060853 | Potocki-Luspski syndrome | 5 | |
DOID:1206 | Rett syndrome | 16 | |
DOID:0050774 | Rapadilino syndrome | 6 | |
DOID:1205 | Allergic hypersensitivity disease | 123 | |
DOID:10969 | Hemiplegia | 14 | |
DOID:5773 | Oral submucous fibrosis | 4 | |
DOID:0060850 | Annular pancreas | 10 | |
DOID:0050678 | Blau syndrome | 9 | |
DOID:9395 | Croup | 10 | |
DOID:9392 | Tracheitis | 5 | |
DOID:0050670 | Ataxic cerebral palsy | 7 | |
DOID:0050672 | Dyskinetic cerebral palsy | 5 | |
DOID:0050674 | Congenital bile acid synthesis defect | 15 | |
DOID:0050675 | Birk-Barel syndrome | 8 | |
DOID:0050676 | Birt-Hogg-Dube syndrome | 11 | |
DOID:4873 | Anterior horn cell disease | 4 | |
DOID:9883 | Becker muscular dystrophy | 8 | |
DOID:9884 | Muscular dystrophy | 33 | |
DOID:11949 | Creutzfeldt-Jakob disease | 7 | |
DOID:1395 | Schistosomiasis | 31 | |
DOID:14711 | FG syndrome | 15 | |
DOID:5870 | Eosinophilic pneumonia | 4 | |
DOID:14717 | Centronuclear myopathy | 25 | |
DOID:0050810 | Biotin deficiency | 9 | |
DOID:0050811 | Congenital adrenal hyperplasia | 25 | |
DOID:0050813 | Spondyloepiphyseal dysplasia with congenital joint dislocations | 9 | |
DOID:0050816 | Urofacial syndrome | 7 | |
DOID:0050817 | Stargardt disease | 5 | |
DOID:0050819 | Matthew-Wood syndrome | 10 | |
DOID:9370 | Exophthalmos | 17 | |
DOID:10967 | Spastic hemiplegia | 8 | |
DOID:0110764 | Hereditary spastic paraplegia 11 | 4 | |
DOID:1993 | Rectum cancer | 11 | |
DOID:1996 | Rectum adenocarcinoma | 11 | |
DOID:1393 | Visual pathway disease | 4 | |
DOID:11678 | Onchocerciasis | 9 | |
DOID:13096 | Sneddon syndrome | 4 | |
DOID:9080 | Macroglobulinemia | 18 | |
DOID:13099 | Moyamoya disease | 10 | |
DOID:0050700 | Cardiomyopathy | 111 | |
DOID:0110477 | Autosomal recessive nonsyndromic deafness 2 | 5 | |
DOID:0050251 | Coenurosis | 4 | |
DOID:0050256 | Angiostrongyliasis | 4 | |
DOID:9778 | Irritable bowel syndrome | 50 | |
DOID:4677 | Keratitis | 34 | |
DOID:2513 | Basal cell carcinoma | 9 | |
DOID:2512 | Nevoid basal cell carcinoma syndrome | 15 | |
DOID:2510 | Kluver-Bucy syndrome | 6 | |
DOID:4297 | Scimitar syndrome | 5 | |
DOID:3840 | Craniopharyngioma | 13 | |
DOID:2518 | Orchitis | 16 | |
DOID:4055 | Ectomesenchymoma | 5 | |
DOID:11132 | Prostatic hypertrophy | 9 | |
DOID:5502 | Lice infestation | 12 | |
DOID:5507 | Clear cell ependymoma | 4 | |
DOID:13544 | Low tension glaucoma | 8 | |
DOID:13543 | Hyperparathyroidism | 39 | |
DOID:12155 | Lymphocytic choriomeningitis | 4 | |
DOID:12157 | Aseptic meningitis | 4 | |
DOID:4450 | Renal cell carcinoma | 16 | |
DOID:496 | Spindle cell hemangioma | 15 | |
DOID:13401 | Angioid streaks | 4 | |
DOID:0060822 | Syndromic X-linked intellectual disability Cabezas type | 7 | |
DOID:9675 | Pulmonary emphysema | 8 | |
DOID:3113 | Papillary carcinoma | 5 | |
DOID:4674 | Androgen insensitivity syndrome | 12 | |
DOID:5485 | Synovial sarcoma | 19 | |
DOID:2862 | Glucosephosphate dehydrogenase deficiency | 14 | |
DOID:3590 | Gestational trophoblastic neoplasm | 17 | |
DOID:3594 | Choriocarcinoma | 14 | |
DOID:0060244 | Specific language impairment | 34 | |
DOID:2648 | Sebaceous adenoma | 7 | |
DOID:12842 | Guillain-Barre syndrome | 14 | |
DOID:12841 | Ancylostomiasis | 6 | |
DOID:2643 | Perivascular epithelioid cell tumor | 4 | |
DOID:11432 | Endometriosis of ovary | 4 | |
DOID:12849 | Autistic disorder | 135 | |
DOID:11383 | Cryptorchidism | 56 | |
DOID:11389 | Subdural empyema | 5 | |
DOID:2883 | Prostatic adenoma | 6 | |
DOID:8283 | Peritonitis | 33 | |
DOID:11541 | Recurrent corneal erosion | 7 | |
DOID:3204 | Neurilemmomatosis | 5 | |
DOID:13711 | Dental fluorosis | 18 | |
DOID:3223 | Complex regional pain syndrome | 11 | |
DOID:14064 | Acute poststreptococcal glomerulonephritis | 4 | |
DOID:543 | Dystonia | 66 | |
DOID:3209 | Junctional epidermolysis bullosa | 6 | |
DOID:0110740 | Neurodegeneration with brain iron accumulation 6 | 7 | |
DOID:8771 | Contagious pustular dermatitis | 12 | |
DOID:10017 | Multiple endocrine neoplasia type 1 | 23 | |
DOID:96 | Staphyloenterotoxemia | 19 | |
DOID:8913 | Dermatophytosis | 11 | |
DOID:13603 | Obstructive jaundice | 4 | |
DOID:12930 | Dilated cardiomyopathy | 51 | |
DOID:10377 | Ametropic amblyopia | 6 | |
DOID:10376 | Amblyopia | 21 | |
DOID:10375 | Suppression amblyopia | 7 | |
DOID:10371 | Yaws | 7 | |
DOID:2089 | Constipation | 45 | |
DOID:6432 | Pulmonary hypertension | 9 | |
DOID:8590 | Acute vascular insufficiency of intestine | 4 | |
DOID:10175 | Optic papillitis | 4 | |
DOID:2223 | Platelet storage pool deficiency | 21 | |
DOID:2247 | Spondylosis | 14 | |
DOID:0110365 | Retinitis pigmentosa 28 | 18 | |
DOID:2382 | Kernicterus | 11 | |
DOID:0110366 | Retinitis pigmentosa 33 | 4 | |
DOID:0110362 | Retinitis pigmentosa 58 | 14 | |
DOID:8354 | Complement component 3 deficiency | 6 | |
DOID:0110368 | Retinitis pigmentosa 26 | 4 | |
DOID:0110418 | Retinitis pigmentosa Y-linked | 8 | |
DOID:0110416 | Retinitis pigmentosa 24 | 16 | |
DOID:7365 | Kimura disease | 5 | |
DOID:0110414 | Retinitis pigmentosa 3 | 13 | |
DOID:0110413 | Retinitis pigmentosa 6 | 9 | |
DOID:0110412 | Retinitis pigmentosa 23 | 27 | |
DOID:8826 | Colon carcinoma in situ | 9 | |
DOID:11151 | Cholecystolithiasis | 4 | |
DOID:14472 | Hantavirus pulmonary syndrome | 5 | |
DOID:11155 | Hypohidrosis | 12 | |
DOID:11156 | Anhidrosis | 10 | |
DOID:7693 | Abdominal aortic aneurysm | 10 | |
DOID:14272 | Pericholangitis | 8 | |
DOID:799 | Varicose veins | 16 | |
DOID:14276 | Shoulder impingement syndrome | 4 | |
DOID:0060013 | Gamma chain deficiency | 5 | |
DOID:790 | Ocular hypotension | 6 | |
DOID:0060010 | Omenn syndrome | 10 | |
DOID:0060015 | interleukin-7 receptor alpha deficiency | 18 | |
DOID:6612 | Leukocyte adhesion deficiency | 16 | |
DOID:13117 | Paronychia | 7 | |
DOID:1697 | Ichthyosis | 51 | |
DOID:1343 | Urethritis | 4 | |
DOID:10955 | Strongyloidiasis | 9 | |
DOID:1340 | Pure red-cell aplasia | 4 | |
DOID:1475 | Lymphangioma | 7 | |
DOID:0060639 | Permanent neonatal diabetes mellitus | 9 | |
DOID:1699 | Congenital ichthyosiform erythroderma | 26 | |
DOID:11262 | Ornithosis | 9 | |
DOID:1474 | Aggressive periodontitis | 10 | |
DOID:12712 | Nephronophthisis | 71 | |
DOID:0090028 | Familial isolated deficiency of vitamin E | 5 | |
DOID:12714 | Ellis-Van Creveld syndrome | 19 | |
DOID:0090025 | Split hand-foot malformation 3 | 4 | |
DOID:1749 | Squamous cell carcinoma | 12 | |
DOID:0090020 | Split hand-foot malformation | 16 | |
DOID:0060706 | X-linked lymphoproliferative syndrome 2 | 4 | |
DOID:0060704 | Lymphoproliferative syndrome | 55 | |
DOID:5082 | Liver cirrhosis | 50 | |
DOID:0060520 | Penicillin allergy | 4 | |
DOID:9965 | Toxoplasmosis | 14 | |
DOID:1089 | Tethered spinal cord syndrome | 9 | |
DOID:0050061 | Erysipeloid | 4 | |
DOID:9410 | Panhypopituitarism | 11 | |
DOID:14654 | Prostatitis | 14 | |
DOID:14498 | Lipoid proteinosis | 5 | |
DOID:14499 | Fabry disease | 9 | |
DOID:14497 | Wolman disease | 5 | |
DOID:14495 | Dumping syndrome | 7 | |
DOID:1234 | Gender identity disorder | 4 | |
DOID:1233 | Transvestism | 4 | |
DOID:0050398 | Carrion's disease | 6 | |
DOID:12384 | Dysentery | 11 | |
DOID:12385 | Shigellosis | 21 | |
DOID:12387 | Nephrogenic diabetes insipidus | 11 | |
DOID:12388 | Neurohypophyseal diabetes insipidus | 13 | |
DOID:0050515 | Paralytic poliomyelitis | 5 | |
DOID:0050668 | alcohol-related birth defect | 4 | |
DOID:0050661 | Vitelliform macular dystrophy | 12 | |
DOID:0050667 | alcohol-related neurodevelopmental disorder | 13 | |
DOID:0050666 | Partial fetal alcohol syndrome | 6 | |
DOID:0050665 | Fetal alcohol syndrome | 8 | |
DOID:9565 | Dextrocardia | 9 | |
DOID:171 | Neuroectodermal tumor | 4 | |
DOID:9563 | Bronchiectasis | 23 | |
DOID:9562 | Primary ciliary dyskinesia | 71 | |
DOID:200 | Giant cell tumor | 5 | |
DOID:203 | Exostosis | 15 | |
DOID:204 | Enthesopathy | 4 | |
DOID:205 | Hyperostosis | 16 | |
DOID:14723 | beta-ketothiolase deficiency | 13 | |
DOID:0050801 | Androgenic alopecia | 9 | |
DOID:0050800 | Creatine transporter deficiency | 4 | |
DOID:10579 | Leukodystrophy | 29 | |
DOID:9346 | Taylor's syndrome | 4 | |
DOID:809 | Cocaine abuse | 4 | |
DOID:11265 | Trachoma | 5 | |
DOID:0050486 | Exanthem | 38 | |
DOID:0050480 | Epidemic typhus | 6 | |
DOID:12098 | Trigeminal neuralgia | 9 | |
DOID:9744 | Type 1 diabetes mellitus | 135 | |
DOID:3901 | Vulvitis | 4 | |
DOID:0050246 | Granulomatous amebic encephalitis | 8 | |
DOID:0050712 | AGAT deficiency | 6 | |
DOID:0050711 | Aceruloplasminemia | 17 | |
DOID:0050710 | 3-Methylcrotonyl-CoA carboxylase deficiency | 11 | |
DOID:240 | Iris disease | 9 | |
DOID:4603 | Epidermolytic hyperkeratosis | 14 | |
DOID:3055 | Paratyphoid fever | 10 | |
DOID:11717 | Neonatal diabetes mellitus | 5 | |
DOID:11714 | Gestational diabetes | 15 | |
DOID:2508 | Takayasu's arteritis | 15 | |
DOID:3052 | Balkan nephropathy | 4 | |
DOID:4022 | Ureterocele | 8 | |
DOID:10320 | Asbestosis | 6 | |
DOID:3690 | Brachial plexus neuropathy | 5 | |
DOID:13576 | twin-to-twin transfusion syndrome | 11 | |
DOID:14251 | Vitreoretinal dystrophy | 4 | |
DOID:1838 | Menkes disease | 19 | |
DOID:13378 | Kawasaki disease | 18 | |
DOID:13372 | Alpha 1-antitrypsin deficiency | 11 | |
DOID:13371 | Scrub typhus | 7 | |
DOID:13374 | Fibrodysplasia ossificans progressiva | 13 | |
DOID:9181 | Amebiasis | 16 | |
DOID:9182 | Pemphigus | 14 | |
DOID:12361 | Graves' disease | 22 | |
DOID:12365 | Malaria | 109 | |
DOID:0060591 | WHIM syndrome | 7 | |
DOID:970 | Tenosynovitis | 5 | |
DOID:971 | Tendinitis | 5 | |
DOID:2476 | Hereditary spastic paraplegia | 54 | |
DOID:2477 | Motor peripheral neuropathy | 6 | |
DOID:11623 | Dental pulp necrosis | 10 | |
DOID:4798 | Aggressive systemic mastocytosis | 7 | |
DOID:13413 | Hepatic encephalopathy | 12 | |
DOID:0060831 | Griscelli syndrome | 23 | |
DOID:0060833 | Griscelli syndrome type 2 | 9 | |
DOID:0060832 | Griscelli syndrome type 1 | 4 | |
DOID:0060834 | Griscelli syndrome type 3 | 12 | |
DOID:4337 | Tinea capitis | 12 | |
DOID:8929 | Atrophic gastritis | 4 | |
DOID:10718 | Giardiasis | 6 | |
DOID:3878 | Intestinal pseudo-obstruction | 9 | |
DOID:2583 | Agammaglobulinemia | 22 | |
DOID:3875 | Thrombophlebitis | 11 | |
DOID:2658 | Dermoid cyst | 5 | |
DOID:13910 | Red color blindness | 4 | |
DOID:11797 | Chronic laryngitis | 4 | |
DOID:13709 | Premature ejaculation | 10 | |
DOID:3269 | Ovarian cystadenoma | 5 | |
DOID:2891 | Thyroid adenoma | 9 | |
DOID:5162 | Arteriolosclerosis | 5 | |
DOID:0110770 | Hereditary spastic paraplegia 17 | 15 | |
DOID:576 | Proteinuria | 22 | |
DOID:10003 | Sensorineural hearing loss | 99 | |
DOID:0050655 | Bamforth-Lazarus syndrome | 4 | |
DOID:13919 | Irregular astigmatism | 12 | |
DOID:0110792 | Hereditary spastic paraplegia 4 | 7 | |
DOID:3308 | Embryonal carcinoma | 9 | |
DOID:10140 | Dry eye syndrome | 15 | |
DOID:10141 | Asthenopia | 9 | |
DOID:8584 | Burkitt lymphoma | 6 | |
DOID:3301 | Gonadoblastoma | 31 | |
DOID:3302 | Chordoma | 4 | |
DOID:3305 | Teratocarcinoma | 7 | |
DOID:8659 | Chickenpox | 8 | |
DOID:8616 | Peyronie's disease | 9 | |
DOID:83 | Cataract | 100 | |
DOID:84 | Osteochondritis dissecans | 16 | |
DOID:8838 | Hodgkin's lymphoma, nodular sclerosis | 19 | |
DOID:7378 | Pituitary hypoplasia | 16 | |
DOID:0060605 | Anterior segment mesenchymal dysgenesis | 4 | |
DOID:0050759 | Myotonic dystrophy type 2 | 8 | |
DOID:0050758 | Metabolic acidosis | 51 | |
DOID:146 | Papilledema | 5 | |
DOID:0110406 | Retinitis pigmentosa 30 | 4 | |
DOID:14261 | Fragile X syndrome | 29 | |
DOID:0060025 | Immunoglobulin alpha deficiency | 10 | |
DOID:14265 | Pulmonary valve insufficiency | 4 | |
DOID:14264 | Benign neonatal seizures | 4 | |
DOID:0060020 | Reticular dysgenesis | 7 | |
DOID:0060021 | DNA ligase IV deficiency | 7 | |
DOID:12894 | Sjogren's syndrome | 13 | |
DOID:784 | Chronic kidney disease | 17 | |
DOID:783 | End stage renal failure | 4 | |
DOID:6376 | Hypersplenism | 7 | |
DOID:0110228 | Cataract 8 multiple types | 29 | |
DOID:0110557 | Autosomal dominant nonsyndromic deafness 28 | 6 | |
DOID:0110555 | Autosomal dominant nonsyndromic deafness 25 | 6 | |
DOID:0110550 | Autosomal dominant nonsyndromic deafness 20 | 4 | |
DOID:1686 | Glaucoma | 112 | |
DOID:1682 | Congenital heart disease | 68 | |
DOID:10923 | Sickle cell anemia | 27 | |
DOID:9620 | Vesicoureteral reflux | 34 | |
DOID:6977 | Pancreatic cholera | 6 | |
DOID:11031 | Bullous keratopathy | 7 | |
DOID:11030 | Corneal edema | 13 | |
DOID:0060282 | Persistent hyperplastic primary vitreous | 17 | |
DOID:0090059 | Enhanced S-cone syndrome | 16 | |
DOID:0060280 | Primary pigmented nodular adrenocortical disease | 9 | |
DOID:0060281 | Photosensitive epilepsy | 8 | |
DOID:0060286 | Combined oxidative phosphorylation deficiency | 14 | |
DOID:0060287 | Cornea plana | 12 | |
DOID:0060284 | Paroxysmal nocturnal hemoglobinuria | 8 | |
DOID:0060285 | Parietal foramina | 10 | |
DOID:11042 | Felty's syndrome | 6 | |
DOID:0060289 | Ohdo syndrome | 5 | |
DOID:0090057 | X-linked dystonia-parkinsonism | 8 | |
DOID:0060732 | Chromosome 9p deletion syndrome | 13 | |
DOID:0060731 | Congenital central hypoventilation syndrome | 14 | |
DOID:10816 | Duodenum adenocarcinoma | 4 | |
DOID:0060739 | hand-foot-genital syndrome | 9 | |
DOID:5075 | Myxopapillary ependymoma | 4 | |
DOID:5074 | Malignant ependymoma | 5 | |
DOID:5077 | Subependymal giant cell astrocytoma | 8 | |
DOID:5078 | Ganglioglioma | 14 | |
DOID:9230 | Pompholyx | 4 | |
DOID:9975 | Cocaine dependence | 20 | |
DOID:9976 | Heroin dependence | 21 | |
DOID:7 | Disease of anatomical entity | 7 | |
DOID:9970 | Obesity | 404 | |
DOID:9971 | Hypervitaminosis D | 7 | |
DOID:9972 | Hypervitaminosis A | 14 | |
DOID:0050012 | Chikungunya | 15 | |
DOID:0060232 | Branchiootic syndrome | 11 | |
DOID:9406 | Hypopituitarism | 34 | |
DOID:1270 | Hereditary hemorrhagic telangiectasia | 11 | |
DOID:9401 | epididymo-orchitis | 6 | |
DOID:9402 | Epididymitis | 7 | |
DOID:2997 | Sertoli-Leydig cell tumor | 5 | |
DOID:9409 | Diabetes insipidus | 12 | |
DOID:0060358 | Multiple acyl-CoA dehydrogenase deficiency | 26 | |
DOID:0060609 | Microcephalic osteodysplastic primordial dwarfism type II | 13 | |
DOID:0060354 | Stormorken syndrome | 5 | |
DOID:0060356 | Vici syndrome | 14 | |
DOID:0060357 | Chylomicron retention disease | 8 | |
DOID:0060602 | alpha-methylacyl-CoA racemase deficiency | 9 | |
DOID:14484 | Sporotrichosis | 8 | |
DOID:0110889 | Inflammatory bowel disease 5 | 14 | |
DOID:13382 | Megaloblastic anemia | 16 | |
DOID:13381 | Pernicious anemia | 9 | |
DOID:5212 | Congenital disorder of glycosylation | 54 | |
DOID:13141 | Uveitis | 36 | |
DOID:13148 | Acute cystitis | 32 | |
DOID:12399 | Pathological gambling | 13 | |
DOID:0050656 | pseudo-TORCH syndrome | 5 | |
DOID:0050125 | Dengue shock syndrome | 5 | |
DOID:0050654 | Baller-Gerold syndrome | 8 | |
DOID:0050127 | Sinusitis | 28 | |
DOID:0050120 | Hemophagocytic lymphohistiocytosis | 31 | |
DOID:12554 | hemolytic-uremic syndrome | 21 | |
DOID:0050650 | Familial atrial fibrillation | 22 | |
DOID:0050651 | Atrioventricular septal defect | 10 | |
DOID:12558 | Chronic progressive external ophthalmoplegia | 15 | |
DOID:4471 | Chromophobe renal cell carcinoma | 6 | |
DOID:9574 | Choanal atresia | 21 | |
DOID:0050129 | Secretory diarrhea | 9 | |
DOID:0050658 | Bart-Pumphrey syndrome | 4 | |
DOID:0050659 | biotin-responsive basal ganglia disease | 7 | |
DOID:14731 | Weaver syndrome | 8 | |
DOID:687 | Hepatoblastoma | 7 | |
DOID:14737 | Craniofrontonasal syndrome | 12 | |
DOID:5679 | Retinal disease | 7 | |
DOID:217 | Enamel caries | 9 | |
DOID:216 | Dental caries | 44 | |
DOID:10540 | Gastric lymphoma | 6 | |
DOID:9352 | Type 2 diabetes mellitus | 71 | |
DOID:2741 | Bilirubin metabolic disorder | 40 | |
DOID:813 | Septic arthritis | 7 | |
DOID:4109 | Tick infestation | 16 | |
DOID:5325 | Roberts syndrome | 11 | |
DOID:5327 | Retinal detachment | 23 | |
DOID:0050877 | Pancreatic agenesis | 16 | |
DOID:10808 | Gastric ulcer | 5 | |
DOID:4479 | Pseudohypoaldosteronism | 13 | |
DOID:8778 | Crohn's disease | 213 | |
DOID:4587 | Benign meningioma | 5 | |
DOID:0110743 | Type 1 diabetes mellitus 4 | 7 | |
DOID:0050720 | Ornithine translocase deficiency | 7 | |
DOID:0050721 | Serine deficiency | 7 | |
DOID:3911 | Progeria | 20 | |
DOID:0050725 | Tyrosinemia type II | 7 | |
DOID:9993 | Hypoglycemia | 70 | |
DOID:0050729 | Neutral lipid storage disease | 12 | |
DOID:3918 | Pancreatic cystadenoma | 4 | |
DOID:4613 | Ulnar neuropathy | 8 | |
DOID:4610 | Intestinal benign neoplasm | 11 | |
DOID:0050908 | Myelodysplastic syndrome | 8 | |
DOID:3049 | Churg-Strauss syndrome | 5 | |
DOID:0050902 | Medulloblastoma | 6 | |
DOID:0110747 | Type 1 diabetes mellitus 8 | 6 | |
DOID:3044 | Food allergy | 5 | |
DOID:3042 | Allergic contact dermatitis | 4 | |
DOID:11702 | Dysgammaglobulinemia | 6 | |
DOID:4035 | Lymphocytic gastritis | 4 | |
DOID:4031 | Eosinophilic gastroenteritis | 7 | |
DOID:13564 | Aspergillosis | 23 | |
DOID:13561 | Optic disk drusen | 5 | |
DOID:5520 | Head and neck squamous cell carcinoma | 8 | |
DOID:1829 | Urethral stricture | 5 | |
DOID:12179 | Tinea corporis | 4 | |
DOID:12177 | Common variable immunodeficiency | 22 | |
DOID:12176 | Goiter | 28 | |
DOID:1826 | Epilepsy | 308 | |
DOID:1827 | Idiopathic generalized epilepsy | 9 | |
DOID:1825 | Childhood absence epilepsy | 8 | |
DOID:9192 | Dyskinesia of esophagus | 11 | |
DOID:9191 | Diabetic macular edema | 5 | |
DOID:0050834 | CHARGE syndrome | 26 | |
DOID:12375 | Bronchopneumonia | 4 | |
DOID:0050833 | Orotic aciduria | 18 | |
DOID:12377 | Spinal muscular atrophy | 26 | |
DOID:0050831 | Familial encephalopathy with neuroserpin inclusion bodies | 10 | |
DOID:13636 | Fanconi anemia | 47 | |
DOID:963 | Episodic ataxia | 19 | |
DOID:962 | Neurofibroma | 6 | |
DOID:3463 | Breast disease | 6 | |
DOID:11634 | Myxedema | 10 | |
DOID:11638 | Presbyopia | 17 | |
DOID:4325 | Ebola hemorrhagic fever | 10 | |
DOID:3869 | Childhood medulloblastoma | 4 | |
DOID:2312 | Nocardiosis | 6 | |
DOID:13778 | Chancroid | 7 | |
DOID:2316 | Brain ischemia | 32 | |
DOID:13777 | Epidermodysplasia verruciformis | 19 | |
DOID:13774 | Addison's disease | 28 | |
DOID:3265 | Chronic granulomatous disease | 10 | |
DOID:3263 | Piebaldism | 13 | |
DOID:3261 | Job's syndrome | 4 | |
DOID:0110768 | Hereditary spastic paraplegia 15 | 7 | |
DOID:10033 | Cycloplegia | 8 | |
DOID:11329 | Ainhum | 4 | |
DOID:12959 | Lagophthalmos | 9 | |
DOID:0110786 | Hereditary spastic paraplegia 35 | 5 | |
DOID:10159 | Osteonecrosis | 25 | |
DOID:9719 | Proliferative vitreoretinopathy | 15 | |
DOID:11459 | Pseudotumor cerebri | 6 | |
DOID:2224 | Essential thrombocythemia | 7 | |
DOID:3319 | Lymphangioleiomyomatosis | 14 | |
DOID:92 | Speech disorder | 8 | |
DOID:90 | Degenerative disc disease | 36 | |
DOID:2222 | Factor X deficiency | 5 | |
DOID:3312 | Bipolar disorder | 130 | |
DOID:3310 | Atopic dermatitis | 52 | |
DOID:7166 | Thyroiditis | 16 | |
DOID:2229 | Factor XI deficiency | 8 | |
DOID:2228 | Thrombocytosis | 27 | |
DOID:3314 | Angiomyolipoma | 20 | |
DOID:3315 | Lipoma | 16 | |
DOID:8337 | Appendicitis | 13 | |
DOID:8622 | Measles | 21 | |
DOID:8805 | Intermediate coronary syndrome | 4 | |
DOID:8646 | substance-induced psychosis | 8 | |
DOID:174 | Acanthoma | 4 | |
DOID:178 | Vascular disease | 247 | |
DOID:12883 | Hypochondriasis | 6 | |
DOID:14256 | adult-onset Still's disease | 8 | |
DOID:14250 | Down syndrome | 80 | |
DOID:1733 | Cryptosporidiosis | 12 | |
DOID:778 | Delusional disorder | 12 | |
DOID:6364 | Migraine | 63 | |
DOID:8432 | Polycythemia | 15 | |
DOID:0060263 | Porencephaly | 7 | |
DOID:7765 | Coats disease | 12 | |
DOID:13911 | Achromatopsia | 14 | |
DOID:1040 | Chronic lymphocytic leukemia | 14 | |
DOID:0110543 | Autosomal dominant nonsyndromic deafness 11 | 5 | |
DOID:0110234 | Cataract 4 multiple types | 12 | |
DOID:13918 | Somatization disorder | 5 | |
DOID:0110546 | Autosomal dominant nonsyndromic deafness 15 | 5 | |
DOID:10935 | Dissociative disorder | 4 | |
DOID:10934 | Multiple personality disorder | 8 | |
DOID:11665 | Patau syndrome | 14 | |
DOID:10930 | Borderline personality disorder | 11 | |
DOID:10933 | obsessive-compulsive disorder | 30 | |
DOID:6419 | Tetralogy of Fallot | 11 | |
DOID:10939 | Antisocial personality disorder | 8 | |
DOID:10938 | Paranoid personality disorder | 5 | |
DOID:865 | Vasculitis | 59 | |
DOID:2533 | Splenic infarction | 5 | |
DOID:0060610 | megacystis-microcolon-intestinal hypoperistalsis syndrome | 9 | |
DOID:0060294 | cold-induced sweating syndrome | 7 | |
DOID:11044 | Gastroschisis | 10 | |
DOID:0060291 | Oculodentodigital dysplasia | 13 | |
DOID:0060728 | NGLY1-deficiency | 4 | |
DOID:8596 | Scarlet fever | 7 | |
DOID:0060720 | Autosomal recessive congenital ichthyosis 11 | 12 | |
DOID:684 | Hepatocellular carcinoma | 23 | |
DOID:0080074 | Neural tube defect | 7 | |
DOID:681 | Progressive bulbar palsy | 4 | |
DOID:682 | Compartment syndrome | 9 | |
DOID:4371 | Schnitzler syndrome | 4 | |
DOID:11193 | Syndactyly | 49 | |
DOID:5062 | Phencyclidine abuse | 4 | |
DOID:9267 | Urea cycle disorder | 7 | |
DOID:1787 | Pericarditis | 12 | |
DOID:1786 | Adrenal rest tumor | 5 | |
DOID:1781 | Thyroid cancer | 17 | |
DOID:350 | Mastocytosis | 27 | |
DOID:11198 | DiGeorge syndrome | 37 | |
DOID:1328 | Rift Valley fever | 13 | |
DOID:0060348 | hypoparathyroidism-retardation-dysmorphism syndrome | 6 | |
DOID:1324 | Lung cancer | 65 | |
DOID:0060345 | Bacillary angiomatosis | 6 | |
DOID:0060614 | ulnar-mammary syndrome | 8 | |
DOID:0060341 | agnathia-otocephaly complex | 7 | |
DOID:0060340 | Ciliopathy | 75 | |
DOID:5204 | fructose-1,6-bisphosphatase deficiency | 7 | |
DOID:5200 | Urinary tract obstruction | 11 | |
DOID:1252 | Trichuriasis | 5 | |
DOID:0110892 | Inflammatory bowel disease 1 | 5 | |
DOID:0110891 | Inflammatory bowel disease 3 | 4 | |
DOID:5199 | Ureteral obstruction | 23 | |
DOID:0050645 | Arterial tortuosity syndrome | 7 | |
DOID:0050644 | Arterial calcification of infancy | 5 | |
DOID:0050647 | Arts syndrome | 25 | |
DOID:0050646 | Distal arthrogryposis | 40 | |
DOID:9505 | Cannabis abuse | 6 | |
DOID:0050648 | Atelosteogenesis | 4 | |
DOID:6404 | Metanephric adenoma | 9 | |
DOID:0050138 | Podoconiosis | 5 | |
DOID:11994 | Atrophy of testis | 5 | |
DOID:14744 | Partington syndrome | 8 | |
DOID:5844 | Myocardial infarction | 52 | |
DOID:14743 | Trichorhinophalangeal syndrome type I | 8 | |
DOID:227 | Ankylosis | 24 | |
DOID:224 | Transient cerebral ischemia | 12 | |
DOID:14748 | Sotos syndrome | 11 | |
DOID:14749 | Methylmalonic acidemia | 27 | |
DOID:5444 | Spiradenoma | 6 | |
DOID:13282 | Intestinal tuberculosis | 5 | |
DOID:5688 | Werner syndrome | 29 | |
DOID:5683 | Hereditary breast ovarian cancer | 5 | |
DOID:5680 | Embryonal testis carcinoma | 4 | |
DOID:446 | Hyperaldosteronism | 26 | |
DOID:0050731 | Vitamin B12 deficiency | 20 | |
DOID:0050730 | Coenzyme Q10 deficiency disease | 8 | |
DOID:0110671 | Congenital myasthenic syndrome 6 | 17 | |
DOID:4621 | Holoprosencephaly | 50 | |
DOID:4626 | Hydranencephaly | 6 | |
DOID:4624 | Ollier disease | 17 | |
DOID:0110415 | Retinitis pigmentosa 2 | 6 | |
DOID:9912 | Hydrocele | 7 | |
DOID:3070 | Malignant glioma | 19 | |
DOID:0050912 | Colon adenoma | 6 | |
DOID:4551 | Anus neoplasm | 4 | |
DOID:4552 | Large cell carcinoma | 5 | |
DOID:10485 | Esophageal atresia | 21 | |
DOID:10487 | Hirschsprung's disease | 44 | |
DOID:10486 | Intestinal atresia | 9 | |
DOID:13359 | Ehlers-Danlos syndrome | 41 | |
DOID:12185 | Otosclerosis | 15 | |
DOID:10488 | Imperforate anus | 27 | |
DOID:1811 | Reflex sympathetic dystrophy | 5 | |
DOID:0050649 | Atransferrinemia | 8 | |
DOID:4483 | Rhinitis | 23 | |
DOID:4481 | Allergic rhinitis | 55 | |
DOID:4480 | Achondroplasia | 19 | |
DOID:0050820 | Atrioventricular block | 22 | |
DOID:12347 | Osteogenesis imperfecta | 32 | |
DOID:4959 | Epidermolysis bullosa dystrophica | 5 | |
DOID:0050827 | Rheumatic heart disease | 4 | |
DOID:997 | Uterine inversion | 5 | |
DOID:999 | Hypereosinophilic syndrome | 67 | |
DOID:2411 | Granular cell tumor | 10 | |
DOID:3413 | alpha-mannosidosis | 7 | |
DOID:0080090 | Reducing body myopathy | 6 | |
DOID:0060851 | Pemphigus vulgaris | 5 | |
DOID:0080092 | Myofibrillar myopathy 1 | 5 | |
DOID:4313 | Epidermolysis bullosa acquisita | 7 | |
DOID:0080094 | Myofibrillar myopathy 3 | 4 | |
DOID:0080096 | Myofibrillar myopathy 5 | 5 | |
DOID:3781 | Anovulation | 20 | |
DOID:3783 | Coffin-Lowry syndrome | 8 | |
DOID:3587 | Pancreatic ductal carcinoma | 5 | |
DOID:11996 | Spermatic cord torsion | 13 | |
DOID:3891 | Placental insufficiency | 17 | |
DOID:3890 | Acute intermittent porphyria | 13 | |
DOID:3893 | Hidrocystoma | 4 | |
DOID:3892 | Insulinoma | 18 | |
DOID:3896 | Hidradenoma | 6 | |
DOID:11991 | Osteopoikilosis | 6 | |
DOID:10303 | Sialadenitis | 11 | |
DOID:3529 | Central core myopathy | 5 | |
DOID:14039 | POEMS syndrome | 6 | |
DOID:2300 | Spondylolysis | 9 | |
DOID:13768 | Opisthorchiasis | 12 | |
DOID:13767 | Clonorchiasis | 14 | |
DOID:11514 | Fissured tongue | 11 | |
DOID:10027 | Tabes dorsalis | 6 | |
DOID:8741 | Seborrheic dermatitis | 10 | |
DOID:1134 | Gingival recession | 14 | |
DOID:519 | Aortitis | 4 | |
DOID:0110151 | Charcot-Marie-Tooth disease type 1C | 5 | |
DOID:2785 | Dandy-Walker syndrome | 10 | |
DOID:12960 | Acrocephalosyndactylia | 16 | |
DOID:12961 | Poland syndrome | 13 | |
DOID:4201 | Peroneal neuropathy | 4 | |
DOID:10554 | Meningoencephalitis | 10 | |
DOID:10128 | Venous insufficiency | 5 | |
DOID:10126 | Keratoconus | 53 | |
DOID:10124 | Corneal disease | 25 | |
DOID:0060352 | Kleefstra syndrome | 13 | |
DOID:2236 | Congenital afibrinogenemia | 11 | |
DOID:2237 | Hepatitis | 45 | |
DOID:2235 | Prothrombin deficiency | 4 | |
DOID:3329 | Benign epilepsy with centrotemporal spikes | 9 | |
DOID:2231 | Factor XII deficiency | 9 | |
DOID:420 | Hypertrichosis | 27 | |
DOID:3326 | Purpura | 17 | |
DOID:8632 | Kaposi's sarcoma | 10 | |
DOID:8633 | Chronic intestinal vascular insufficiency | 12 | |
DOID:3320 | Tay-Sachs disease | 4 | |
DOID:0060476 | Perlman syndrome | 9 | |
DOID:7319 | Axonal neuropathy | 12 | |
DOID:166 | Melanotic neuroectodermal tumor | 6 | |
DOID:161 | Keratosis | 29 | |
DOID:14247 | Chronic purulent otitis media | 7 | |
DOID:0110034 | X-linked Alport syndrome | 7 | |
DOID:2129 | Atypical teratoid rhabdoid tumor | 6 | |
DOID:767 | Muscular atrophy | 63 | |
DOID:2123 | Tularemia | 22 | |
DOID:2120 | Focal dermal hypoplasia | 8 | |
DOID:768 | Retinoblastoma | 17 | |
DOID:8517 | Acute cor pulmonale | 5 | |
DOID:8927 | Learning disability | 15 | |
DOID:12568 | Dyscalculia | 5 | |
DOID:8923 | Skin melanoma | 8 | |
DOID:6132 | Bronchitis | 25 | |
DOID:7400 | Nijmegen breakage syndrome | 24 | |
DOID:3138 | Acanthosis nigricans | 12 | |
DOID:11055 | Pasteurellosis | 12 | |
DOID:11054 | Urinary bladder cancer | 26 | |
DOID:0090070 | Hypogonadotropic hypogonadism | 14 | |
DOID:12986 | Leukostasis | 4 | |
DOID:693 | Dental enamel hypoplasia | 13 | |
DOID:0060196 | Amyotrophic lateral sclerosis type 4 | 4 | |
DOID:0060197 | Amyotrophic lateral sclerosis type 5 | 14 | |
DOID:13832 | Patent ductus arteriosus | 12 | |
DOID:0060193 | Amyotrophic lateral sclerosis type 1 | 15 | |
DOID:699 | Mitochondrial myopathy | 14 | |
DOID:698 | Dentin sensitivity | 14 | |
DOID:1793 | Pancreatic cancer | 18 | |
DOID:5052 | Melioidosis | 16 | |
DOID:1024 | Leprosy | 46 | |
DOID:12403 | Tinea pedis | 10 | |
DOID:12401 | Intermittent explosive disorder | 4 | |
DOID:10873 | Kuhnt-Junius degeneration | 14 | |
DOID:341 | Peripheral vascular disease | 73 | |
DOID:342 | Subclavian artery aneurysm | 6 | |
DOID:10908 | Hydrocephalus | 50 | |
DOID:0060379 | Acrofacial dysostosis | 7 | |
DOID:1338 | Congenital dyserythropoietic anemia | 15 | |
DOID:11184 | Acute conjunctivitis | 4 | |
DOID:182 | Calcinosis | 32 | |
DOID:180 | Ossifying fibroma | 11 | |
DOID:1242 | Globe disease | 27 | |
DOID:0060409 | Chromosome 1p32-p31 deletion syndrome | 4 | |
DOID:1240 | Leukemia | 34 | |
DOID:0060404 | Chromosome 17q12 deletion syndrome | 5 | |
DOID:0060406 | Chromosome 18p deletion syndrome | 5 | |
DOID:0060407 | Chromosome 18q deletion syndrome | 10 | |
DOID:0060403 | Chromosome 17q11.2 deletion syndrome, 1.4Mb | 15 | |
DOID:13800 | Inclusion conjunctivitis | 8 | |
DOID:9682 | Yellow fever | 15 | |
DOID:9681 | Cervical incompetence | 6 | |
DOID:4838 | Myoepithelial carcinoma | 4 | |
DOID:11983 | Prader-Willi syndrome | 45 | |
DOID:4837 | Gorham's disease | 4 | |
DOID:11984 | Hypertrophic cardiomyopathy | 36 | |
DOID:14755 | Argininosuccinic aciduria | 17 | |
DOID:230 | Lateral sclerosis | 11 | |
DOID:235 | Colonic benign neoplasm | 4 | |
DOID:14753 | Isovaleric acidemia | 15 | |
DOID:9602 | Necrotizing fasciitis | 7 | |
DOID:0050698 | Funisitis | 6 | |
DOID:0050699 | Dent disease | 18 | |
DOID:0050632 | Oculocutaneous albinism | 27 | |
DOID:5309 | epithelial-myoepithelial carcinoma | 5 | |
DOID:1742 | Drug psychosis | 6 | |
DOID:0050690 | Brachyolmia | 4 | |
DOID:0050691 | Branchiooculofacial syndrome | 11 | |
DOID:0050696 | Fetal alcohol spectrum disorder | 8 | |
DOID:0050697 | Chorioamnionitis | 18 | |
DOID:0050694 | Brown-Vialetto-Van Laere syndrome | 5 | |
DOID:12716 | Newborn respiratory distress syndrome | 7 | |
DOID:4952 | Postpoliomyelitis syndrome | 4 | |
DOID:11561 | Hypertensive retinopathy | 8 | |
DOID:0050741 | Alcohol dependence | 96 | |
DOID:0050742 | Nicotine dependence | 46 | |
DOID:0050745 | Diffuse large B-cell lymphoma | 4 | |
DOID:0050746 | Mantle cell lymphoma | 4 | |
DOID:0050211 | Swine influenza | 7 | |
DOID:456 | Ascariasis | 6 | |
DOID:9201 | Lichen planus | 15 | |
DOID:9206 | Barrett's esophagus | 16 | |
DOID:9207 | Periodic limb movement disorder | 4 | |
DOID:0050589 | Inflammatory bowel disease | 134 | |
DOID:0050587 | Trichotillomania | 7 | |
DOID:11875 | Denture stomatitis | 12 | |
DOID:5230 | Hepatoerythropoietic porphyria | 5 | |
DOID:11870 | Pick's disease | 15 | |
DOID:11727 | Facioscapulohumeral muscular dystrophy | 18 | |
DOID:11726 | Emery-Dreifuss muscular dystrophy | 22 | |
DOID:0050962 | Spinocerebellar ataxia type 12 | 5 | |
DOID:11724 | limb-girdle muscular dystrophy | 35 | |
DOID:11723 | Duchenne muscular dystrophy | 16 | |
DOID:11722 | Myotonic dystrophy type 1 | 16 | |
DOID:11720 | Distal muscular dystrophy | 7 | |
DOID:4543 | Retrograde amnesia | 4 | |
DOID:11729 | Lyme disease | 27 | |
DOID:1056 | Oculocerebrorenal syndrome | 30 | |
DOID:13580 | Cholestasis | 68 | |
DOID:3664 | Mast cell neoplasm | 8 | |
DOID:3669 | Intermittent claudication | 15 | |
DOID:12192 | Sigmoid colon cancer | 4 | |
DOID:0110848 | Xeroderma pigmentosum group F | 20 | |
DOID:0110849 | Xeroderma pigmentosum group G | 15 | |
DOID:12197 | Punctate epithelial keratoconjunctivitis | 5 | |
DOID:0110844 | Xeroderma pigmentosum group C | 5 | |
DOID:0110845 | Xeroderma pigmentosum group D | 28 | |
DOID:4492 | Avian influenza | 8 | |
DOID:0080102 | Congenital fiber-type disproportion | 8 | |
DOID:0050854 | Muckle-Wells syndrome | 12 | |
DOID:4943 | Adenocarcinoma in situ | 14 | |
DOID:4123 | Nail disease | 8 | |
DOID:980 | Choroidal sclerosis | 6 | |
DOID:987 | Alopecia | 41 | |
DOID:2934 | Aleutian mink disease | 6 | |
DOID:9279 | Hyperhomocysteinemia | 27 | |
DOID:11613 | Hyperandrogenism | 32 | |
DOID:11612 | Polycystic ovary syndrome | 77 | |
DOID:988 | Mitral valve prolapse | 13 | |
DOID:4306 | Radiculopathy | 13 | |
DOID:3401 | Inappropriate ADH syndrome | 5 | |
DOID:4556 | Lung large cell carcinoma | 4 | |
DOID:10588 | Adrenoleukodystrophy | 21 | |
DOID:11400 | Pyelonephritis | 10 | |
DOID:10584 | Retinitis pigmentosa | 126 | |
DOID:10581 | Metachromatic leukodystrophy | 14 | |
DOID:3798 | Pleural empyema | 12 | |
DOID:3883 | Lynch syndrome | 30 | |
DOID:14040 | Autoimmune polyendocrine syndrome | 6 | |
DOID:0110875 | Holoprosencephaly 3 | 6 | |
DOID:13738 | Hepatic infarction | 4 | |
DOID:2685 | Ossifying fibromyxoid tumor | 5 | |
DOID:14042 | Bipolar I disorder | 7 | |
DOID:2683 | Adenofibroma | 5 | |
DOID:13757 | Excessive tearing | 5 | |
DOID:3247 | Rhabdomyosarcoma | 13 | |
DOID:3534 | Lafora disease | 8 | |
DOID:507 | Adjustment disorder | 8 | |
DOID:8717 | Decubitus ulcer | 11 | |
DOID:0110148 | Charcot-Marie-Tooth disease type 1A | 8 | |
DOID:3082 | Interstitial lung disease | 37 | |
DOID:3083 | Chronic obstructive pulmonary disease | 77 | |
DOID:3081 | Cystic lymphangioma | 16 | |
DOID:3086 | Gingival overgrowth | 5 | |
DOID:3087 | Gingivitis | 13 | |
DOID:648 | Kuru | 4 | |
DOID:12971 | Hereditary spherocytosis | 11 | |
DOID:10138 | Xerophthalmia | 10 | |
DOID:2750 | Glycogen storage disease IV | 6 | |
DOID:2752 | Glycogen storage disease II | 5 | |
DOID:0080110 | Multiple pterygium syndrome | 16 | |
DOID:10480 | Diaphragmatic eventration | 8 | |
DOID:3331 | Frontal lobe epilepsy | 8 | |
DOID:14110 | Anus cancer | 5 | |
DOID:7147 | Ankylosing spondylitis | 54 | |
DOID:11476 | Osteoporosis | 158 | |
DOID:13622 | Campylobacteriosis | 12 | |
DOID:8644 | Gastroduodenitis | 4 | |
DOID:431 | Myofascial pain syndrome | 6 | |
DOID:7148 | Rheumatoid arthritis | 241 | |
DOID:437 | Myasthenia gravis | 15 | |
DOID:8643 | Duodenitis | 7 | |
DOID:0110326 | Hypertrophic cardiomyopathy 20 | 12 | |
DOID:8488 | Polyhydramnios | 30 | |
DOID:8864 | Acute monocytic leukemia | 6 | |
DOID:8867 | Molluscum contagiosum | 8 | |
DOID:8866 | Actinic keratosis | 7 | |
DOID:8869 | Neuromyelitis optica | 18 | |
DOID:13351 | Pedophilia | 4 | |
DOID:0050524 | maturity-onset diabetes of the young | 27 | |
DOID:14233 | Orbital cyst | 4 | |
DOID:13938 | Amenorrhea | 49 | |
DOID:10223 | Dermatomyositis | 16 | |
DOID:750 | Peptic ulcer disease | 11 | |
DOID:0050451 | Brugada syndrome | 27 | |
DOID:13934 | Facial paralysis | 12 | |
DOID:0050980 | Spinocerebellar ataxia type 31 | 8 | |
DOID:758 | Situs inversus | 48 | |
DOID:0110214 | Cleft soft palate | 4 | |
DOID:0110213 | Isolated cleft palate | 4 | |
DOID:4953 | Poliomyelitis | 12 | |
DOID:0050457 | Sertoli cell-only syndrome | 35 | |
DOID:11060 | Placenta praevia | 8 | |
DOID:9733 | Renal tuberculosis | 4 | |
DOID:0090061 | Familial cold autoinflammatory syndrome | 10 | |
DOID:11263 | Chlamydia | 21 | |
DOID:11260 | Rabies | 20 | |
DOID:11266 | Hemorrhagic fever with renal syndrome | 7 | |
DOID:11267 | Keratomalacia | 5 | |
DOID:0090067 | Fuhrmann syndrome | 6 | |
DOID:12995 | Conduct disorder | 23 | |
DOID:0060746 | Basal laminar drusen | 7 | |
DOID:10825 | Essential hypertension | 37 | |
DOID:0060744 | Pendred Syndrome | 23 | |
DOID:6543 | Acne | 18 | |
DOID:0060180 | Colitis | 30 | |
DOID:6239 | non-invasive bladder papillary urothelial neoplasm | 4 | |
DOID:7327 | Pseudosarcomatous fibromatosis | 6 | |
DOID:0060565 | Ritscher-Schinzel syndrome | 7 | |
DOID:0060564 | Spinal disease | 8 | |
DOID:0060569 | Hypertrichotic osteochondrodysplasia Cantu type | 5 | |
DOID:8454 | Ariboflavinosis | 4 | |
DOID:1019 | Osteomyelitis | 25 | |
DOID:0050025 | Human granulocytic anaplasmosis | 7 | |
DOID:0050026 | Human monocytic ehrlichiosis | 4 | |
DOID:3558 | Duodenal obstruction | 7 | |
DOID:14694 | Johanson-Blizzard syndrome | 4 | |
DOID:1496 | Echinococcosis | 19 | |
DOID:14692 | Smith-Lemli-Opitz syndrome | 9 | |
DOID:14693 | Clouston syndrome | 10 | |
DOID:1498 | Cholera | 29 | |
DOID:14699 | thrombocytopenia-absent radius syndrome | 5 | |
DOID:0060364 | Galloway-Mowat syndrome | 14 | |
DOID:0060366 | Hennekam syndrome | 8 | |
DOID:1307 | Dementia | 116 | |
DOID:0060363 | Glycerol kinase deficiency | 9 | |
DOID:10915 | Wernicke-Korsakoff syndrome | 7 | |
DOID:10914 | Amnestic disorder | 36 | |
DOID:0060419 | Chromosome 3q29 microdeletion syndrome | 11 | |
DOID:0060417 | 3p- syndrome | 16 | |
DOID:1470 | Major depressive disorder | 69 | |
DOID:0060415 | Chromosome 2p16.1-p15 deletion syndrome | 8 | |
DOID:0060412 | Chromosome 1q41-q42 deletion syndrome | 4 | |
DOID:0060411 | Chromosome 1q21.1 deletion syndrome | 8 | |
DOID:0060410 | Chromosome 1p36 deletion syndrome | 22 | |
DOID:14768 | Saethre-Chotzen syndrome | 5 | |
DOID:9521 | Laron syndrome | 7 | |
DOID:9835 | Refractive error | 29 | |
DOID:9834 | Hyperopia | 29 | |
DOID:9837 | Hypertropia | 4 | |
DOID:14764 | Larsen syndrome | 10 | |
DOID:14766 | Renal agenesis | 27 | |
DOID:1063 | Interstitial nephritis | 5 | |
DOID:11088 | Asphyxia neonatorum | 4 | |
DOID:0050848 | Obstructive sleep apnea | 26 | |
DOID:5041 | Esophageal cancer | 14 | |
DOID:11080 | Myiasis | 6 | |
DOID:248 | Trachea leiomyoma | 6 | |
DOID:0050684 | Bowen-Conradi syndrome | 15 | |
DOID:0050686 | Organ system cancer | 6 | |
DOID:4791 | Supratentorial primitive neuroectodermal tumor | 6 | |
DOID:13027 | Transient global amnesia | 4 | |
DOID:13025 | Retinopathy of prematurity | 19 | |
DOID:0110923 | Familial hemophagocytic lymphohistiocytosis 3 | 5 | |
DOID:0110922 | Familial hemophagocytic lymphohistiocytosis 2 | 14 | |
DOID:0110921 | Familial hemophagocytic lymphohistiocytosis 1 | 10 | |
DOID:0110920 | Hereditary spherocytosis type 5 | 10 | |
DOID:12217 | Lewy body dementia | 4 | |
DOID:12215 | Oligohydramnios | 23 | |
DOID:0050753 | Cerebellar ataxia | 71 | |
DOID:0050752 | Amyotrophic lateral sclerosis type 8 | 8 | |
DOID:0050750 | Splenic marginal zone lymphoma | 6 | |
DOID:0050757 | Deafness dystonia syndrome | 20 | |
DOID:0050756 | Batten disease | 11 | |
DOID:0050755 | Ataxia with oculomotor apraxia type 2 | 4 | |
DOID:0050754 | Ataxia with oculomotor apraxia type 1 | 5 | |
DOID:2559 | Opiate dependence | 27 | |
DOID:3371 | Chondrosarcoma | 14 | |
DOID:11885 | Ureteral benign neoplasm | 4 | |
DOID:0050591 | Tooth agenesis | 42 | |
DOID:0050590 | Severe congenital neutropenia | 11 | |
DOID:0050592 | Asphyxiating thoracic dystrophy | 40 | |
DOID:4817 | Ganglioneuroma | 6 | |
DOID:5223 | Infertility | 155 | |
DOID:10016 | Multiple endocrine neoplasia type 2B | 16 | |
DOID:3652 | Leigh disease | 85 | |
DOID:3650 | Lactic acidosis | 46 | |
DOID:11199 | Hypoparathyroidism | 24 | |
DOID:3659 | Sialuria | 8 | |
DOID:1875 | Impotence | 32 | |
DOID:10845 | St. Louis encephalitis | 5 | |
DOID:1876 | Sexual dysfunction | 9 | |
DOID:0110859 | Polycystic kidney disease 2 | 11 | |
DOID:0110858 | Polycystic kidney disease 1 | 20 | |
DOID:4971 | Myelofibrosis | 9 | |
DOID:4970 | Prosopagnosia | 4 | |
DOID:4977 | Lymphedema | 26 | |
DOID:0110850 | Xeroderma pigmentosum group B | 18 | |
DOID:4159 | Skin cancer | 18 | |
DOID:4154 | Dentinogenesis imperfecta | 27 | |
DOID:4156 | Primary syphilis | 4 | |
DOID:9307 | Rectal prolapse | 11 | |
DOID:10844 | Japanese encephalitis | 4 | |
DOID:2920 | Membranoproliferative glomerulonephritis | 4 | |
DOID:2921 | Glomerulonephritis | 12 | |
DOID:2926 | Klippel-Trenaunay syndrome | 13 | |
DOID:2929 | Newcastle disease | 11 | |
DOID:8125 | Osteochondrosis | 17 | |
DOID:4377 | Egg allergy | 4 | |
DOID:0080073 | Spina bifida occulta | 9 | |
DOID:0080072 | Neuronal intestinal dysplasia | 5 | |
DOID:0080071 | pseudo-Hurler polydystrophy | 6 | |
DOID:0080070 | inclusion-cell disease | 15 | |
DOID:4378 | Peanut allergy | 10 | |
DOID:1909 | Melanoma | 56 | |
DOID:10591 | pre-eclampsia | 35 | |
DOID:10595 | Charcot-Marie-Tooth disease | 62 | |
DOID:13241 | Behcet's disease | 19 | |
DOID:1907 | Malignant fibroxanthoma | 7 | |
DOID:2321 | Dyspepsia | 33 | |
DOID:2326 | Gastroenteritis | 38 | |
DOID:539 | Ophthalmoplegia | 19 | |
DOID:0060185 | Clostridium difficile colitis | 12 | |
DOID:3507 | Dermatofibrosarcoma protuberans | 6 | |
DOID:10041 | Dysplastic nevus syndrome | 5 | |
DOID:8781 | Rubella | 16 | |
DOID:12549 | Hepatitis A | 11 | |
DOID:2219 | Glanzmann's thrombasthenia | 22 | |
DOID:0080109 | Infantile myofibromatosis | 8 | |
DOID:0080108 | Myoglobinuria | 9 | |
DOID:2215 | Factor VII deficiency | 6 | |
DOID:2216 | Factor V deficiency | 7 | |
DOID:2217 | Bernard-Soulier syndrome | 12 | |
DOID:2746 | Glycogen storage disease V | 9 | |
DOID:2747 | Glycogen storage disease | 38 | |
DOID:3345 | Xanthomatosis | 5 | |
DOID:3347 | Osteosarcoma | 5 | |
DOID:11405 | Diphtheria | 40 | |
DOID:3341 | Osteitis fibrosa | 6 | |
DOID:3343 | Glycoproteinosis | 12 | |
DOID:409 | Liver disease | 187 | |
DOID:403 | Mouth disease | 6 | |
DOID:401 | multidrug-resistant tuberculosis | 5 | |
DOID:2698 | Nephrogenic adenofibroma | 4 | |
DOID:0080176 | Meningococcal meningitis | 4 | |
DOID:8499 | Night blindness | 32 | |
DOID:2732 | Rothmund-Thomson syndrome | 14 | |
DOID:2691 | Myoma | 11 | |
DOID:2696 | Leydig cell tumor | 6 | |
DOID:0080175 | Cloacal exstrophy | 7 | |
DOID:0110668 | Congenital myasthenic syndrome 10 | 8 | |
DOID:12698 | Gynecomastia | 13 | |
DOID:12697 | locked-in syndrome | 12 | |
DOID:0110667 | Congenital myasthenic syndrome 5 | 11 | |
DOID:14228 | Oligospermia | 22 | |
DOID:14227 | Azoospermia | 86 | |
DOID:14221 | Metabolic syndrome X | 20 | |
DOID:14223 | Ochronosis | 4 | |
DOID:746 | Adenomatoid tumor | 7 | |
DOID:9487 | Meckel's diverticulum | 5 | |
DOID:10211 | Cholelithiasis | 14 | |
DOID:2106 | Myotonia congenita | 9 | |
DOID:13922 | Eosinophilic esophagitis | 17 | |
DOID:1526 | Panniculitis | 6 | |
DOID:0110260 | Cataract 7 | 31 | |
DOID:0110593 | Autosomal dominant nonsyndromic deafness 9 | 4 | |
DOID:0110590 | Autosomal dominant nonsyndromic deafness 69 | 4 | |
DOID:0110388 | Retinitis pigmentosa 10 | 5 | |
DOID:14291 | LEOPARD syndrome | 18 | |
DOID:7551 | Gonorrhea | 13 | |
DOID:0110698 | Hypotrichosis 1 | 14 | |
DOID:6688 | Autoimmune lymphoproliferative syndrome | 13 | |
DOID:7426 | Cutaneous anthrax | 7 | |
DOID:6683 | Aarskog syndrome | 12 | |
DOID:6682 | Spondylolisthesis | 15 | |
DOID:6933 | Bladder transitional cell papilloma | 5 | |
DOID:11077 | Brucellosis | 22 | |
DOID:11512 | Budd-Chiari syndrome | 10 | |
DOID:0060775 | Microvillus inclusion disease | 8 | |
DOID:4500 | Hypokalemia | 36 | |
DOID:0060175 | Succinic semialdehyde dehydrogenase deficiency | 15 | |
DOID:6204 | Follicular adenoma | 6 | |
DOID:0060170 | Generalized epilepsy with febrile seizures plus | 7 | |
DOID:0060172 | Juvenile absence epilepsy | 6 | |
DOID:0060173 | Timothy syndrome | 9 | |
DOID:7334 | Nephrogenic adenoma | 10 | |
DOID:13819 | Lymphogranuloma venereum | 12 | |
DOID:0110384 | Retinitis pigmentosa 25 | 7 | |
DOID:0060178 | Familial hemiplegic migraine | 6 | |
DOID:0060798 | Hypomyelinating leukodystrophy 6 | 25 | |
DOID:3153 | Lipomatosis | 9 | |
DOID:10573 | Osteomalacia | 28 | |
DOID:14681 | Silver-Russell syndrome | 35 | |
DOID:14687 | Diastrophic dysplasia | 21 | |
DOID:14686 | Axenfeld-Rieger syndrome | 13 | |
DOID:1485 | Cystic fibrosis | 70 | |
DOID:3156 | Incontinentia pigmenti achromians | 5 | |
DOID:0060313 | Tracheomalacia | 11 | |
DOID:0060314 | Persistent generalized lymphadenopathy | 17 | |
DOID:0060315 | Oral hairy leukoplakia | 6 | |
DOID:1312 | Focal segmental glomerulosclerosis | 9 | |
DOID:0060317 | Lung abscess | 4 | |
DOID:0060318 | Acute promyelocytic leukemia | 8 | |
DOID:0060319 | Cardiac arrest | 25 | |
DOID:1319 | Brain cancer | 6 | |
DOID:1849 | Cannabis dependence | 16 | |
DOID:0060428 | Chromosome 2q32-q33 deletion syndrome | 5 | |
DOID:0060422 | Chromosome 6pter-p24 deletion syndrome | 4 | |
DOID:0060420 | Chromosome 4q21 deletion syndrome | 6 | |
DOID:0060426 | Chromosome 19p13.13 deletion syndrome | 5 | |
DOID:0060427 | Chromosome Xp21 deletion syndrome | 7 | |
DOID:10747 | Lymphoid leukemia | 12 | |
DOID:0050160 | Inhalation anthrax | 5 | |
DOID:0110014 | Age related macular degeneration 1 | 4 | |
DOID:12510 | Retinal ischemia | 7 | |
DOID:0050167 | Autoimmune polyendocrine syndrome type 1 | 8 | |
DOID:9822 | Partial central choroid dystrophy | 11 | |
DOID:9537 | Lassa fever | 7 | |
DOID:4810 | Cerebrotendinous xanthomatosis | 12 | |
DOID:9827 | Radioulnar synostosis | 16 | |
DOID:14778 | blepharophimosis, ptosis, and epicanthus inversus syndrome | 7 | |
DOID:5813 | Purine nucleoside phosphorylase deficiency | 11 | |
DOID:5812 | MHC class II deficiency | 6 | |
DOID:9828 | Neonatal abstinence syndrome | 9 | |
DOID:9538 | Multiple myeloma | 19 | |
DOID:0060159 | Organic acidemia | 5 | |
DOID:4675 | Uremic neuropathy | 4 | |
DOID:255 | Hemangioma | 44 | |
DOID:5039 | Myoblastoma | 4 | |
DOID:0060229 | Baraitser-Winter syndrome | 10 | |
DOID:0060558 | Lethal congenital contracture syndrome | 8 | |
DOID:0060224 | Atrial fibrillation | 46 | |
DOID:0060225 | 3MC syndrome | 6 | |
DOID:1002 | Endometritis | 20 | |
DOID:0060227 | Adams-Oliver syndrome | 13 | |
DOID:0060221 | Maffucci syndrome | 6 | |
DOID:0060550 | Ablepharon macrostomia syndrome | 5 | |
DOID:0060551 | Poikiloderma with neutropenia | 5 | |
DOID:0110269 | Cataract 3 multiple types | 10 | |
DOID:13031 | Balanoposthitis | 4 | |
DOID:13033 | Balanitis | 4 | |
DOID:13034 | Relapsing fever | 13 | |
DOID:0110918 | Hereditary spherocytosis type 3 | 12 | |
DOID:0110919 | Hereditary spherocytosis type 4 | 17 | |
DOID:0110916 | Hereditary spherocytosis type 1 | 21 | |
DOID:0110917 | Hereditary spherocytosis type 2 | 17 | |
DOID:0110914 | Infantile hypophosphatasia | 4 | |
DOID:0050766 | chorea-acanthocytosis | 10 | |
DOID:0110159 | Charcot-Marie-Tooth disease type 2B | 4 | |
DOID:12205 | Dengue disease | 20 | |
DOID:0050763 | ARC syndrome | 13 | |
DOID:9220 | Central sleep apnea | 9 | |
DOID:0050769 | N syndrome | 5 | |
DOID:0050566 | X-linked nonsyndromic deafness | 12 | |
DOID:0050567 | Orofacial cleft | 7 | |
DOID:0050560 | Walker-Warburg syndrome | 16 | |
DOID:0110766 | Hereditary spastic paraplegia 13 | 4 | |
DOID:0050562 | West syndrome | 7 | |
DOID:0050563 | Nonsyndromic deafness | 128 | |
DOID:0050568 | Spondylocostal dysostosis | 13 | |
DOID:0050569 | Seckel syndrome | 33 | |
DOID:10690 | Mastitis | 46 | |
DOID:3649 | Pyruvate decarboxylase deficiency | 14 | |
DOID:0050788 | Proximal symphalangism | 7 | |
DOID:9007 | Sudden infant death syndrome | 31 | |
DOID:9008 | Psoriatic arthritis | 32 | |
DOID:0050785 | Progressive relapsing multiple sclerosis | 20 | |
DOID:0050786 | Iridogoniodysgenesis syndrome | 7 | |
DOID:0050787 | Juvenile polyposis syndrome | 5 | |
DOID:0050780 | Opitz-GBBB syndrome | 19 | |
DOID:0050781 | Ogden syndrome | 6 | |
DOID:0050782 | Zollinger-Ellison syndrome | 10 | |
DOID:0050783 | Secondary progressive multiple sclerosis | 10 | |
DOID:5768 | Nager acrofacial dysostosis | 20 | |
DOID:10456 | Tonsillitis | 17 | |
DOID:10457 | Legionnaires' disease | 17 | |
DOID:10458 | Legionellosis | 4 | |
DOID:10459 | Common cold | 45 | |
DOID:5766 | Pulmonary sclerosing hemangioma | 8 | |
DOID:4968 | Nelson syndrome | 6 | |
DOID:4964 | Neurotic disorder | 8 | |
DOID:0110860 | Polycystic kidney disease 3 | 4 | |
DOID:0110861 | Autosomal recessive polycystic kidney disease | 33 | |
DOID:13328 | Diabetic cataract | 5 | |
DOID:0110865 | Congenital stationary night blindness 1B | 4 | |
DOID:12337 | Varicocele | 22 | |
DOID:12336 | Male infertility | 154 | |
DOID:12680 | Pseudobulbar palsy | 6 | |
DOID:9643 | Babesiosis | 10 | |
DOID:9317 | Lymphangitis | 5 | |
DOID:0080100 | Congenital myopathy | 14 | |
DOID:0060888 | Transient myeloproliferative syndrome | 7 | |
DOID:2913 | Acute pancreatitis | 7 | |
DOID:3429 | Inclusion body myositis | 12 | |
DOID:0060887 | Ossification of the posterior longitudinal ligament of spine | 11 | |
DOID:0080043 | Achondrogenesis | 6 | |
DOID:0080041 | Hypochondroplasia | 9 | |
DOID:4362 | Cervical cancer | 20 | |
DOID:0080047 | Pseudoachondroplasia | 12 | |
DOID:0080045 | Kniest dysplasia | 4 | |
DOID:0080049 | Acromesomelic dysplasia | 11 | |
DOID:13258 | Typhoid fever | 18 | |
DOID:1919 | Lesch-Nyhan syndrome | 13 | |
DOID:13250 | Diarrhea | 153 | |
DOID:12028 | Conn's syndrome | 22 | |
DOID:0050948 | Autosomal dominant hypophosphatemic rickets | 4 | |
DOID:0050946 | Charlevoix-Saguenay spastic ataxia | 5 | |
DOID:12733 | Hypercementosis | 5 | |
DOID:2355 | Anemia | 231 | |
DOID:1761 | Melkersson-Rosenthal syndrome | 4 | |
DOID:2351 | Iron metabolism disease | 8 | |
DOID:2352 | Hemochromatosis | 30 | |
DOID:10079 | Cysticercosis | 13 | |
DOID:9119 | Acute myeloid leukemia | 11 | |
DOID:529 | Blepharospasm | 5 | |
DOID:528 | Hydrarthrosis | 5 | |
DOID:526 | Human immunodeficiency virus infectious disease | 84 | |
DOID:10074 | Hymenolepiasis | 4 | |
DOID:0060311 | Adenoid hypertrophy | 6 | |
DOID:5805 | Subvalvular aortic stenosis | 4 | |
DOID:10787 | Premature menopause | 7 | |
DOID:4347 | Lymphocele | 8 | |
DOID:0050933 | Ovarian serous carcinoma | 6 | |
DOID:0080132 | Sengers syndrome | 17 | |
DOID:2773 | Contact dermatitis | 6 | |
DOID:0080137 | Multiple endocrine neoplasia type 4 | 5 | |
DOID:13641 | Exfoliation syndrome | 7 | |
DOID:14175 | Von Hippel-Lindau disease | 15 | |
DOID:3355 | Fibrosarcoma | 8 | |
DOID:417 | Hypersensitivity reaction type II disease | 188 | |
DOID:418 | Systemic scleroderma | 53 | |
DOID:13482 | Proteus syndrome | 6 | |
DOID:11342 | Arcus senilis | 8 | |
DOID:8461 | Aicardi syndrome | 15 | |
DOID:8465 | Retinoschisis | 11 | |
DOID:0110052 | Amelogenesis imperfecta type 1B | 4 | |
DOID:8466 | Retinal degeneration | 59 | |
DOID:8469 | Influenza | 98 | |
DOID:8689 | Anorexia nervosa | 33 | |
DOID:7633 | Macular holes | 10 | |
DOID:37 | Skin disease | 44 | |
DOID:12689 | Acoustic neuroma | 6 | |
DOID:0110679 | Congenital myasthenic syndrome 4C | 9 | |
DOID:7188 | Autoimmune thyroiditis | 19 | |
DOID:8634 | Prostate carcinoma in situ | 10 | |
DOID:14213 | Hypophosphatasia | 8 | |
DOID:14218 | Dihydropyrimidine dehydrogenase deficiency | 6 | |
DOID:14219 | Renal tubular acidosis | 12 | |
DOID:10582 | Refsum disease | 18 | |
DOID:2170 | Vaginitis | 4 | |
DOID:4029 | Gastritis | 44 | |
DOID:4184 | Pseudohypoparathyroidism | 14 | |
DOID:0110275 | Autosomal recessive limb-girdle muscular dystrophy type 2A | 4 | |
DOID:7455 | Hypogonadotropism | 11 | |
DOID:7457 | Enterobiasis | 5 | |
DOID:12169 | Carpal tunnel syndrome | 19 | |
DOID:0060098 | Osteoblastoma | 8 | |
DOID:13271 | Cutaneous porphyria | 6 | |
DOID:13270 | Erythropoietic protoporphyria | 9 | |
DOID:14365 | Systemic primary carnitine deficiency disease | 14 | |
DOID:0060762 | Lethal restrictive dermopathy | 5 | |
DOID:11240 | Appendiceal neoplasm | 4 | |
DOID:0060764 | Autosomal recessive Robinow syndrome | 27 | |
DOID:0060766 | Autosomal dominant Robinow syndrome 1 | 13 | |
DOID:649 | Prion disease | 5 | |
DOID:10841 | Eastern equine encephalitis | 14 | |
DOID:11249 | Vitamin K deficiency hemorrhagic disease | 10 | |
DOID:10843 | Western equine encephalitis | 12 | |
DOID:2006 | Preretinal fibrosis | 4 | |
DOID:0060167 | Seasonal affective disorder | 22 | |
DOID:0060165 | Kleine-Levin syndrome | 5 | |
DOID:0060164 | Pain disorder | 14 | |
DOID:13862 | Acute closed-angle glaucoma | 4 | |
DOID:0060162 | dentatorubral-pallidoluysian atrophy | 19 | |
DOID:0060161 | Kennedy's disease | 12 | |
DOID:13868 | Hypoactive sexual desire disorder | 8 | |
DOID:0060168 | Histidinemia | 8 | |
DOID:0060786 | Hypomyelinating leukodystrophy | 8 | |
DOID:0060785 | adult-onset autosomal dominant demyelinating leukodystrophy | 9 | |
DOID:0060782 | EEC syndrome | 7 | |
DOID:397 | Restrictive cardiomyopathy | 7 | |
DOID:399 | Tuberculosis | 121 | |
DOID:1673 | Pneumothorax | 19 | |
DOID:0060306 | Meier-Gorlin syndrome | 10 | |
DOID:0060305 | Megalocornea | 12 | |
DOID:0060304 | Dyschromatosis universalis hereditaria | 6 | |
DOID:6457 | Cowden disease | 12 | |
DOID:0060308 | Autosomal recessive non-syndromic intellectual disability | 7 | |
DOID:1679 | Cystitis | 11 | |
DOID:0060436 | Chromosome 22q11.2 microduplication syndrome | 6 | |
DOID:1459 | Hypothyroidism | 79 | |
DOID:13137 | Werdnig-Hoffmann disease | 4 | |
DOID:0060439 | Lysinuric protein intolerance | 13 | |
DOID:9821 | Choroideremia | 13 | |
DOID:12526 | Tarsal tunnel syndrome | 4 | |
DOID:0110520 | Autosomal recessive nonsyndromic deafness 7 | 6 | |
DOID:0050175 | tick-borne encephalitis | 15 | |
DOID:14320 | Generalized anxiety disorder | 15 | |
DOID:14780 | KBG syndrome | 9 | |
DOID:1588 | Thrombocytopenia | 95 | |
DOID:14784 | Olivopontocerebellar atrophy | 9 | |
DOID:263 | Kidney cancer | 15 | |
DOID:14789 | Spondyloepiphyseal dysplasia congenita | 4 | |
DOID:0060239 | Van der Woude syndrome | 8 | |
DOID:0060238 | Van Maldergem syndrome | 6 | |
DOID:0060237 | Warburg micro syndrome | 17 | |
DOID:1074 | Kidney failure | 32 | |
DOID:0060235 | Carnitine palmitoyltransferase II deficiency | 14 | |
DOID:0060234 | Carpenter syndrome | 10 | |
DOID:0060233 | Cardiofaciocutaneous syndrome | 16 | |
DOID:1070 | Primary open angle glaucoma | 11 | |
DOID:0060231 | Bruck syndrome | 10 | |
DOID:0060230 | Basal ganglia calcification | 16 | |
DOID:2801 | Nonspecific interstitial pneumonia | 4 | |
DOID:5374 | Pilomatrixoma | 12 | |
DOID:14773 | cartilage-hair hypoplasia | 6 | |
DOID:11934 | Head and neck cancer | 8 | |
DOID:13003 | Vertebrobasilar insufficiency | 10 | |
DOID:0110900 | Inflammatory bowel disease 2 | 8 | |
DOID:0110907 | Inflammatory bowel disease 6 | 7 | |
DOID:0050770 | Polycystic liver disease | 14 | |
DOID:0050773 | Paraganglioma | 14 | |
DOID:12237 | Bile reflux | 9 | |
DOID:0050775 | Schneckenbecken dysplasia | 4 | |
DOID:9258 | Waardenburg's syndrome | 17 | |
DOID:0050777 | Joubert syndrome | 60 | |
DOID:0050776 | non-syndromic X-linked intellectual disability | 9 | |
DOID:9255 | Frontotemporal dementia | 40 | |
DOID:0050778 | Meckel syndrome | 42 | |
DOID:9256 | Colorectal cancer | 16 | |
DOID:9250 | Acrocallosal syndrome | 11 | |
DOID:9253 | Gastrointestinal stromal tumor | 10 | |
DOID:9252 | Amino acid metabolic disorder | 4 | |
DOID:0050577 | Sensenbrenner syndrome | 17 | |
DOID:0050576 | Senior-Loken syndrome | 20 | |
DOID:0050575 | D-2-hydroxyglutaric aciduria | 9 | |
DOID:0050574 | L-2-hydroxyglutaric aciduria | 8 | |
DOID:0050573 | 2-hydroxyglutaric aciduria | 4 | |
DOID:0050572 | cone-rod dystrophy | 55 | |
DOID:252 | Alcoholic psychosis | 6 | |
DOID:9074 | Systemic lupus erythematosus | 91 | |
DOID:2044 | drug-induced hepatitis | 6 | |
DOID:3635 | Congenital myasthenic syndrome | 25 | |
DOID:0050795 | Cone dystrophy | 58 | |
DOID:319 | Spinal cord disease | 22 | |
DOID:0050793 | Short QT syndrome | 10 | |
DOID:0050792 | Multiple cutaneous and mucosal venous malformations | 10 | |
DOID:5572 | Beckwith-Wiedemann syndrome | 37 | |
DOID:10688 | Hypertrophy of breast | 16 | |
DOID:1858 | McCune Albright syndrome | 15 | |
DOID:1852 | Intrahepatic cholestasis | 15 | |
DOID:1856 | Cherubism | 13 | |
DOID:13316 | Exocrine pancreatic insufficiency | 22 | |
DOID:13317 | Hyperinsulinemic hypoglycemia | 17 | |
DOID:12308 | Dubin-Johnson syndrome | 5 | |
DOID:4990 | Essential tremor | 21 | |
DOID:1003 | Pelvic inflammatory disease | 21 | |
DOID:4997 | Camurati-Engelmann disease | 6 | |
DOID:4998 | Trichorhinophalangeal syndrome type II | 15 | |
DOID:12306 | Vitiligo | 67 | |
DOID:4176 | Blood group incompatibility | 4 | |
DOID:0060223 | Agraphia | 6 | |
DOID:9673 | Ulcerative stomatitis | 4 | |
DOID:769 | Neuroblastoma | 27 | |
DOID:4428 | Dyslexia | 33 | |
DOID:3181 | Oligodendroglioma | 6 | |
DOID:4424 | Juvenile xanthogranuloma | 8 | |
DOID:4331 | Burning mouth syndrome | 7 | |
DOID:0060647 | Cocoon syndrome | 5 | |
DOID:3744 | Cervical squamous cell carcinoma | 7 | |
DOID:883 | Parasitic helminthiasis infectious disease | 14 | |
DOID:4195 | Hyperglycemia | 117 | |
DOID:885 | Fascioliasis | 12 | |
DOID:13268 | Porphyria | 10 | |
DOID:13269 | Hereditary coproporphyria | 7 | |
DOID:1929 | Supravalvular aortic stenosis | 7 | |
DOID:1928 | Williams-Beuren syndrome | 46 | |
DOID:1926 | Gaucher's disease | 22 | |
DOID:1925 | Coffin-Siris syndrome | 16 | |
DOID:1924 | Hypogonadism | 65 | |
DOID:1921 | Klinefelter's syndrome | 58 | |
DOID:1920 | Hyperuricemia | 38 | |
DOID:0050959 | Spinocerebellar ataxia type 8 | 5 | |
DOID:0050958 | Spinocerebellar ataxia type 7 | 11 | |
DOID:13419 | Neurogenic bowel | 5 | |
DOID:1210 | Optic neuritis | 4 | |
DOID:0050952 | Spastic ataxia | 16 | |
DOID:0050955 | Spinocerebellar ataxia type 2 | 21 | |
DOID:0050954 | Spinocerebellar ataxia type 1 | 16 | |
DOID:0050956 | Spinocerebellar ataxia type 6 | 5 | |
DOID:8881 | Rosacea | 13 | |
DOID:2344 | Polyclonal hypergammaglobulinemia | 5 | |
DOID:2340 | Craniosynostosis | 47 | |
DOID:3565 | Meningioma | 13 | |
DOID:8924 | Autoimmune thrombocytopenic purpura | 13 | |
DOID:13677 | SAPHO syndrome | 9 | |
DOID:3292 | Monkeypox | 11 | |
DOID:4226 | Endometrial stromal sarcoma | 12 | |
DOID:2580 | Rhizomelic chondrodysplasia punctata | 10 | |
DOID:2581 | Chondrodysplasia punctata | 39 | |
DOID:3298 | Vaccinia | 37 | |
DOID:0110116 | Autoimmune lymphoproliferative syndrome type 2B | 7 | |
DOID:0110117 | Autoimmune lymphoproliferative syndrome type 4 | 5 | |
DOID:2908 | Treacher Collins syndrome | 25 | |
DOID:2907 | Goldenhar syndrome | 20 | |
DOID:2211 | Factor XIII deficiency | 6 | |
DOID:9997 | Peripartum cardiomyopathy | 4 | |
DOID:9790 | Toxocariasis | 5 | |
DOID:3369 | Ewing sarcoma | 16 | |
DOID:14146 | Ureterolithiasis | 4 | |
DOID:8675 | Lymphosarcoma | 4 | |
DOID:8677 | Perinatal necrotizing enterocolitis | 19 | |
DOID:8670 | Eating disorder | 23 | |
DOID:6420 | Pulmonary valve stenosis | 9 | |
DOID:8472 | Localized scleroderma | 6 | |
DOID:8476 | Whipple disease | 6 | |
DOID:8478 | Actinomycosis | 9 | |
DOID:9726 | Vitreous detachment | 9 | |
DOID:0110640 | Congenital muscular dystrophy due to LMNA mutation | 4 | |
DOID:8691 | Mycosis fungoides | 8 | |
DOID:0110644 | Long QT syndrome 1 | 14 | |
DOID:0050765 | Neuroacanthocytosis | 5 | |
DOID:9159 | Gas gangrene | 14 | |
DOID:12835 | Quadriplegia | 10 | |
DOID:724 | Female stress incontinence | 5 | |
DOID:10273 | Heart conduction disease | 31 | |
DOID:11338 | Tetanus | 58 | |
DOID:11339 | Pneumocystosis | 15 | |
DOID:0110881 | Holoprosencephaly 1 | 5 | |
DOID:11335 | Sarcoidosis | 36 | |
DOID:4080 | Tricuspid valve insufficiency | 10 | |
DOID:13781 | Hypermobility syndrome | 15 | |
DOID:3907 | Lung squamous cell carcinoma | 7 | |
DOID:7442 | Monoclonal gammopathy of uncertain significance | 4 | |
DOID:11258 | cat-scratch disease | 8 | |
DOID:12783 | Migraine without aura | 4 | |
DOID:11257 | Social phobia | 7 | |
DOID:10871 | Age related macular degeneration | 65 | |
DOID:2018 | Hyperinsulinism | 57 | |
DOID:10301 | Parotitis | 6 | |
DOID:657 | Adenoma | 129 | |
DOID:656 | Adrenal adenoma | 5 | |
DOID:8857 | Lupus erythematosus | 50 | |
DOID:0060158 | Acquired metabolic disease | 145 | |
DOID:8501 | Fundus dystrophy | 78 | |
DOID:8506 | Bullous pemphigoid | 14 | |
DOID:8504 | Impetigo | 6 | |
DOID:8505 | Dermatitis herpetiformis | 7 | |
DOID:6000 | Congestive heart failure | 11 | |
DOID:10892 | Hypospadias | 51 | |
DOID:11204 | Allergic conjunctivitis | 5 | |
DOID:381 | Arthropathy | 33 | |
DOID:114 | Heart disease | 239 | |
DOID:384 | Wolff-Parkinson-White syndrome | 7 | |
DOID:0060336 | 3-methylglutaconic aciduria | 26 | |
DOID:0060334 | Transient neonatal diabetes mellitus | 8 | |
DOID:1664 | Pineoblastoma | 6 | |
DOID:0060330 | Rapp-Hodgkin syndrome | 6 | |
DOID:7998 | Hyperthyroidism | 37 | |
DOID:118 | Pericardial effusion | 7 | |
DOID:7997 | Thyrotoxicosis | 39 | |
DOID:1440 | Machado-Joseph disease | 16 | |
DOID:1441 | Autosomal dominant cerebellar ataxia | 31 | |
DOID:1442 | Alpers syndrome | 9 | |
DOID:11294 | Arteriovenous malformation | 5 | |
DOID:1116 | Pertussis | 18 | |
DOID:0060445 | Congenital stromal corneal dystrophy | 5 | |
DOID:0060446 | X-linked endothelial corneal dystrophy | 11 | |
DOID:1115 | Sarcoma | 28 | |
DOID:0060448 | Fleck corneal dystrophy | 9 | |
DOID:0060449 | Gelatinous drop-like corneal dystrophy | 6 | |
DOID:6713 | Cerebrovascular disease | 225 | |
DOID:6712 | Anterior spinal artery syndrome | 5 | |
DOID:0050867 | Jensen syndrome | 6 | |
DOID:13129 | Severe pre-eclampsia | 4 | |
DOID:9808 | Goodpasture syndrome | 6 | |
DOID:0050144 | Kartagener syndrome | 4 | |
DOID:0050145 | Adenoiditis | 4 | |
DOID:0050143 | Asymptomatic dengue | 4 | |
DOID:12531 | Von Willebrand's disease | 19 | |
DOID:369 | Olfactory neuroblastoma | 4 | |
DOID:0050148 | Laryngotracheitis | 8 | |
DOID:14791 | Leber congenital amaurosis | 64 | |
DOID:14793 | Hypohidrotic ectodermal dysplasia | 12 | |
DOID:8295 | Scabies | 6 | |
DOID:14796 | Dubowitz syndrome | 14 | |
DOID:14550 | Root resorption | 21 | |
DOID:14557 | Primary pulmonary hypertension | 13 | |
DOID:10699 | Paragonimiasis | 7 | |
DOID:1064 | Cystinosis | 14 | |
DOID:1062 | Fanconi syndrome | 10 | |
DOID:3642 | Empty sella syndrome | 5 | |
DOID:1060 | Hartnup disease | 13 | |
DOID:3275 | Thymoma | 11 | |
DOID:820 | Myocarditis | 11 | |
DOID:0060645 | Chronic recurrent multifocal osteomyelitis | 6 | |
DOID:13014 | Shipyard eye | 13 | |
DOID:0110078 | Leber congenital amaurosis 1 | 4 | |
DOID:0060195 | Amyotrophic lateral sclerosis type 3 | 18 | |
DOID:9248 | Pallister-Hall syndrome | 11 | |
DOID:9246 | Cerebral amyloid angiopathy | 7 | |
DOID:9245 | Alagille syndrome | 13 | |
DOID:9240 | Erythromelalgia | 7 | |
DOID:3172 | Papillary adenoma | 4 | |
DOID:0050540 | Charcot-Marie-Tooth disease type 3 | 6 | |
DOID:0050541 | Charcot-Marie-Tooth disease type 4 | 5 | |
DOID:0050546 | Congenital adrenal insufficiency | 7 | |
DOID:1287 | Cardiovascular system disease | 102 | |
DOID:0050544 | Hypermethioninemia | 7 | |
DOID:0050545 | Visceral heterotaxy | 12 | |
DOID:0050548 | Hereditary sensory neuropathy | 10 | |
DOID:1289 | Neurodegenerative disease | 392 | |
DOID:5583 | Lung giant cell carcinoma | 4 | |
DOID:9065 | Leishmaniasis | 41 | |
DOID:0014667 | Disease of metabolism | 12 | |
DOID:9063 | Ritter's disease | 9 | |
DOID:9060 | Pityriasis versicolor | 9 | |
DOID:4501 | Orofaciodigital syndrome | 21 | |
DOID:3627 | Aortic aneurysm | 34 | |
DOID:6906 | Glomangiomatosis | 4 | |
DOID:4692 | Endophthalmitis | 11 | |
DOID:5746 | Ovarian serous cystadenocarcinoma | 5 | |
DOID:13300 | Scheuermann's disease | 10 | |
DOID:0050328 | Congenital hypothyroidism | 22 | |
DOID:0050891 | Adrenal cortical adenoma | 13 | |
DOID:4989 | Pancreatitis | 80 | |
DOID:0050894 | Ameloblastoma | 21 | |
DOID:4166 | Syphilis | 16 | |
DOID:9663 | Aphthous stomatitis | 5 | |
DOID:9667 | Placental abruption | 19 | |
DOID:11656 | Cicatricial pemphigoid | 5 | |
DOID:0060674 | Catecholaminergic polymorphic ventricular tachycardia | 9 | |
DOID:3191 | Nemaline myopathy | 17 | |
DOID:3192 | Neurilemmoma | 19 | |
DOID:4346 | Variegate porphyria | 8 | |
DOID:8440 | Ileus | 12 | |
DOID:10783 | Methemoglobinemia | 12 | |
DOID:10780 | Primary polycythemia | 8 | |
DOID:0080027 | Spondyloepimetaphyseal dysplasia | 12 | |
DOID:3753 | Hermansky-Pudlak syndrome | 41 | |
DOID:4188 | Echolalia | 4 | |
DOID:4189 | Mutism | 9 | |
DOID:3756 | Protein C deficiency | 17 | |
DOID:898 | Autosomal dominant polycystic kidney disease | 27 | |
DOID:3755 | Antithrombin III deficiency | 8 | |
DOID:891 | Progressive myoclonus epilepsy | 4 | |
DOID:890 | Mitochondrial encephalomyopathy | 16 | |
DOID:893 | Wilson disease | 14 | |
DOID:1930 | Laurence-Moon syndrome | 6 | |
DOID:1932 | Angelman syndrome | 33 | |
DOID:1933 | Rubinstein-Taybi syndrome | 10 | |
DOID:1935 | Bardet-Biedl syndrome | 49 | |
DOID:1936 | Atherosclerosis | 237 | |
DOID:0050438 | Frasier syndrome | 8 | |
DOID:0050439 | Usher syndrome | 32 | |
DOID:4744 | Placenta accreta | 7 | |
DOID:0050432 | Asperger syndrome | 33 | |
DOID:0050433 | Fatal familial insomnia | 7 | |
DOID:0050430 | Multiple endocrine neoplasia type 2A | 18 | |
DOID:0050431 | Arrhythmogenic right ventricular cardiomyopathy | 32 | |
DOID:0050436 | Mulibrey nanism | 12 | |
DOID:0050437 | Danon disease | 8 | |
DOID:0050434 | Andersen-Tawil syndrome | 8 | |
DOID:2373 | Hereditary elliptocytosis | 21 | |
DOID:2377 | Multiple sclerosis | 213 | |
DOID:2378 | relapsing-remitting multiple sclerosis | 17 | |
DOID:2571 | Langerhans-cell histiocytosis | 12 | |
DOID:3577 | Sertoli cell tumor | 8 | |
DOID:3575 | Cavernous sinus thrombosis | 4 | |
DOID:4236 | Carcinosarcoma | 4 | |
DOID:3571 | Liver cancer | 5 | |
DOID:4239 | Alveolar soft part sarcoma | 9 | |
DOID:11786 | Splenic sequestration | 5 | |
DOID:11168 | Anogenital venereal wart | 9 | |
DOID:11782 | Astigmatism | 31 | |
DOID:10655 | Lipoma of colon | 4 | |
DOID:10652 | Alzheimer's disease | 257 | |
DOID:9649 | Congenital nystagmus | 23 | |
DOID:2975 | Cystic kidney disease | 22 | |
DOID:2977 | Primary hyperoxaluria | 14 | |
DOID:2717 | Bloom syndrome | 27 | |
DOID:0080153 | Medium chain acyl-CoA dehydrogenase deficiency | 13 | |
DOID:0080154 | Short chain acyl-CoA dehydrogenase deficiency | 9 | |
DOID:0080155 | Very long chain acyl-CoA dehydrogenase deficiency | 9 | |
DOID:0080156 | X-linked adrenal hypoplasia congenita | 10 | |
DOID:2712 | Phimosis | 5 | |
DOID:0080159 | Cryptococcal meningitis | 5 | |
DOID:2718 | Hemopneumothorax | 5 | |
DOID:3178 | Skin papilloma | 4 | |
DOID:3179 | Inverted papilloma | 4 | |
DOID:0060849 | osteoporosis-pseudoglioma syndrome | 9 | |
DOID:0060844 | Norrie disease | 12 | |
DOID:0060847 | Leri-Weill dyschondrosteosis | 6 | |
DOID:479 | Angiokeratoma | 8 | |
DOID:0060843 | Hereditary neuropathy with liability to pressure palsies | 9 | |
DOID:8446 | Intussusception | 5 | |
DOID:8445 | Intestinal volvulus | 4 | |
DOID:8443 | Brachial plexus lesion | 4 | |
DOID:14501 | Sjogren-Larsson syndrome | 6 | |
DOID:5154 | Borna disease | 6 | |
DOID:2917 | Cryoglobulinemia | 18 | |
DOID:17 | Musculoskeletal system disease | 10 | |
DOID:715 | T-cell leukemia | 4 | |
DOID:10264 | Mumps | 10 | |
DOID:718 | Autoimmune hemolytic anemia | 12 | |
DOID:2626 | Choroid plexus papilloma | 9 | |
DOID:8997 | Polycythemia vera | 25 | |
DOID:11328 | Schizophreniform disorder | 5 | |
DOID:8991 | Cervix uteri carcinoma in situ | 11 | |
DOID:2394 | Ovarian cancer | 43 | |
DOID:0110256 | Cataract 21 multiple types | 5 | |
DOID:2154 | Nephroblastoma | 20 | |
DOID:6039 | Uveal melanoma | 11 | |
DOID:12799 | Mucopolysaccharidosis II | 4 | |
DOID:12798 | Mucopolysaccharidosis | 26 | |
DOID:1339 | Diamond-Blackfan anemia | 28 | |
DOID:11227 | Acute hemorrhagic conjunctivitis | 4 | |
DOID:10863 | Paralytic squint | 4 | |
DOID:10314 | Endocarditis | 15 | |
DOID:0060145 | Pain agnosia | 100 | |
DOID:2025 | Gestational choriocarcinoma | 4 | |
DOID:668 | Myositis ossificans | 4 | |
DOID:0110492 | Autosomal recessive nonsyndromic deafness 33 | 4 | |
DOID:8538 | Reticulosarcoma | 4 | |
DOID:8536 | Herpes zoster | 14 | |
DOID:8534 | Gastroesophageal reflux disease | 22 | |
DOID:8533 | Hypopharynx cancer | 4 | |
DOID:0110252 | Cataract 37 | 5 | |
DOID:11772 | Leukocoria | 5 | |
DOID:10881 | hand, foot and mouth disease | 12 | |
DOID:10883 | Herpangina | 8 | |
DOID:6873 | Skin tag | 4 | |
DOID:0060329 | Ectopic pregnancy | 14 | |
DOID:0060328 | Anal fistula | 4 | |
DOID:4044 | Skeletal muscle neoplasm | 6 | |
DOID:1618 | Breast fibroadenoma | 9 | |
DOID:14415 | Legg-Calve-Perthes disease | 9 | |
DOID:0060321 | Umbilical hernia | 16 | |
DOID:0060320 | Inguinal hernia | 14 | |
DOID:14418 | Dracunculiasis | 6 | |
DOID:12642 | Hiatus hernia | 7 | |
DOID:0060325 | Cervical polyp | 4 | |
DOID:0060327 | Omphalocele | 22 | |
DOID:1612 | Breast cancer | 111 | |
DOID:7475 | Diverticulitis | 12 | |
DOID:0060452 | Posterior amorphous corneal dystrophy | 9 | |
DOID:0060451 | Meesmann corneal dystrophy | 6 | |
DOID:1436 | Corneal ectasia | 11 | |
DOID:0060457 | Posterior polymorphous corneal dystrophy | 19 | |
DOID:0060456 | Schnyder corneal dystrophy | 21 | |
DOID:0060455 | Thiel-Behnke corneal dystrophy | 5 | |
DOID:1432 | Blindness | 80 | |
DOID:0060459 | Chromosome 3q29 microduplication syndrome | 6 | |
DOID:1439 | Pyuria | 6 | |
DOID:6498 | Seborrheic keratosis | 6 | |
DOID:0050156 | Idiopathic pulmonary fibrosis | 12 | |
DOID:9870 | Galactosemia | 20 | |
DOID:288 | Endometriosis of uterus | 4 | |
DOID:289 | Endometriosis | 59 | |
DOID:0060394 | Chromosome 15q13.3 microdeletion syndrome | 10 | |
DOID:14525 | Reye syndrome | 11 | |
DOID:1724 | Duodenal ulcer | 14 | |
DOID:1727 | Retinal vein occlusion | 8 | |
DOID:5214 | Demyelinating polyneuropathy | 6 | |
DOID:0060218 | CREST syndrome | 10 | |
DOID:9584 | Venezuelan equine encephalitis | 6 | |
DOID:4752 | Multiple system atrophy | 28 | |
DOID:13068 | Renal osteodystrophy | 5 | |
DOID:11914 | Gastroparesis | 20 | |
DOID:1540 | Parathyroid carcinoma | 5 | |
DOID:9588 | Encephalitis | 51 | |
DOID:11164 | Band keratopathy | 5 | |
DOID:12259 | Hemophilia B | 11 | |
DOID:12252 | Cushing's syndrome | 44 | |
DOID:9273 | Citrullinemia | 14 | |
DOID:9270 | Alkaptonuria | 4 | |
DOID:0050559 | Fukuyama congenital muscular dystrophy | 8 | |
DOID:9275 | Tyrosinemia | 10 | |
DOID:9274 | Hyperlysinemia | 6 | |
DOID:9909 | Hordeolum | 5 | |
DOID:0050557 | Congenital muscular dystrophy | 30 | |
DOID:9278 | Hyperargininemia | 7 | |
DOID:12144 | Low compliance bladder | 9 | |
DOID:9471 | Meningitis | 39 | |
DOID:12145 | Detrusor sphincter dyssynergia | 8 | |
DOID:9477 | Pulmonary embolism | 37 | |
DOID:9478 | Postpartum depression | 9 | |
DOID:3613 | Canavan disease | 10 | |
DOID:3612 | Retinitis | 5 | |
DOID:3614 | Kallmann syndrome | 27 | |
DOID:3969 | Papillary thyroid carcinoma | 5 | |
DOID:10461 | Dentin caries | 5 | |
DOID:10460 | Nasopharyngitis | 12 | |
DOID:9296 | Cleft lip | 81 | |
DOID:5757 | Endocervicitis | 4 | |
DOID:0050936 | extra-adrenal pheochromocytoma | 7 | |
DOID:0050822 | second-degree atrioventricular block | 5 | |
DOID:0050331 | LADD syndrome | 9 | |
DOID:0050882 | Spinocerebellar ataxia type 5 | 5 | |
DOID:0050881 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | 13 | |
DOID:0050880 | Koolen de Vries syndrome | 21 | |
DOID:0050887 | Townes-Brocks syndrome | 13 | |
DOID:0050886 | Troyer syndrome | 4 | |
DOID:0050885 | IMAGe syndrome | 8 | |
DOID:14464 | Neuroleptic malignant syndrome | 8 | |
DOID:1752 | Ocular melanoma | 4 | |
DOID:1712 | Aortic valve stenosis | 8 | |
DOID:0080033 | Craniometaphyseal dysplasia | 4 | |
DOID:0080031 | Fibrous dysplasia | 11 | |
DOID:9123 | Eczema herpeticum | 6 | |
DOID:0080036 | SOST-related sclerosing bone dysplasia | 7 | |
DOID:5213 | Chronic inflammatory demyelinating polyradiculoneuropathy | 5 | |
DOID:9120 | Amyloidosis | 61 | |
DOID:3767 | Vaginal discharge | 9 | |
DOID:3765 | Pseudohermaphroditism | 15 | |
DOID:3764 | Denys-Drash syndrome | 12 | |
DOID:3763 | Hermaphroditism | 9 | |
DOID:3762 | cytochrome-c oxidase deficiency disease | 11 | |
DOID:869 | Cholesteatoma | 14 | |
DOID:231 | Motor neuron disease | 12 | |
DOID:1947 | Trichomoniasis | 10 | |
DOID:1943 | Telogen effluvium | 4 | |
DOID:1949 | Cholecystitis | 6 | |
DOID:13209 | Right bundle branch block | 11 | |
DOID:0050425 | Restless legs syndrome | 26 | |
DOID:0050424 | Familial adenomatous polyposis | 25 | |
DOID:0050427 | Xeroderma pigmentosum | 42 | |
DOID:0050426 | Stevens-Johnson syndrome | 12 | |
DOID:4531 | Mucoepidermoid carcinoma | 23 | |
DOID:0050429 | Hailey-Hailey disease | 5 | |
DOID:0050428 | Nonepidermolytic palmoplantar keratoderma | 10 | |
DOID:4535 | Hypotrichosis | 30 | |
DOID:9452 | Fatty liver disease | 95 | |
DOID:2364 | post-thrombotic syndrome | 6 | |
DOID:2365 | West Nile encephalitis | 9 | |
DOID:2367 | Neuroaxonal dystrophy | 10 | |
DOID:14095 | Boutonneuse fever | 7 | |
DOID:2560 | Morphine dependence | 10 | |
DOID:14262 | Oral candidiasis | 7 | |
DOID:2566 | Corneal dystrophy | 14 | |
DOID:1412 | Bacteriuria | 8 | |
DOID:0050963 | Spinocerebellar ataxia type 13 | 5 | |
DOID:2568 | Cervicitis | 5 | |
DOID:0050561 | Lennox-Gastaut syndrome | 4 | |
DOID:332 | Amyotrophic lateral sclerosis | 90 | |
DOID:10646 | Schizotypal personality disorder | 7 | |
DOID:13515 | Tuberous sclerosis | 15 | |
DOID:1143 | Exotropia | 11 | |
DOID:12895 | Keratoconjunctivitis sicca | 9 | |
DOID:9784 | Trichinosis | 7 | |
DOID:2964 | Periarthritis | 6 | |
DOID:1414 | Ovarian dysfunction | 15 | |
DOID:2962 | Cockayne syndrome | 53 | |
DOID:2960 | Photosensitive trichothiodystrophy | 23 | |
DOID:2986 | IgA glomerulonephritis | 17 | |
DOID:0080143 | Congenital fibrosis of the extraocular muscles | 10 | |
DOID:3103 | Thoracic outlet syndrome | 6 | |
DOID:9335 | Scotoma | 11 | |
DOID:3385 | Bacterial vaginosis | 14 | |
DOID:2703 | Synovitis | 30 | |
DOID:0080144 | Childhood acute lymphocytic leukemia | 5 | |
DOID:3388 | Periodontal disease | 35 | |
DOID:916 | Liver neoplasm | 7 | |
DOID:445 | Bartter disease | 12 | |
DOID:2497 | Enamel erosion | 16 | |
DOID:2494 | Angiodysplasia | 5 | |
DOID:2590 | Familial nephrotic syndrome | 6 | |
DOID:2493 | Gastric antral vascular ectasia | 10 | |
DOID:0060859 | Salmonellosis | 39 | |
DOID:2491 | Sensory peripheral neuropathy | 6 | |
DOID:0060857 | Septooptic dysplasia | 18 | |
DOID:3146 | Lipid metabolism disorder | 106 | |
DOID:0110002 | 3-methylglutaconic aciduria type 1 | 7 | |
DOID:3144 | Cutis laxa | 27 | |
DOID:0110004 | 3-methylglutaconic aciduria type 3 | 6 | |
DOID:0060852 | Pierson syndrome | 11 | |
DOID:8457 | Pellagra | 20 | |
DOID:65 | Connective tissue disease | 42 | |
DOID:705 | Leber hereditary optic neuropathy | 4 | |
DOID:701 | Dentin dysplasia | 19 | |
DOID:0110386 | Retinitis pigmentosa 42 | 7 | |
DOID:2634 | Cystadenoma | 6 | |
DOID:11353 | Bladder diverticulum | 5 | |
DOID:8986 | Narcolepsy | 38 | |
DOID:2383 | Neonatal jaundice | 13 | |
DOID:2384 | Wernicke encephalopathy | 12 | |
DOID:0050847 | Sleep apnea | 4 | |
DOID:13714 | Anodontia | 13 | |
DOID:0110534 | Autosomal recessive nonsyndromic deafness 89 | 5 | |
DOID:678 | Progressive supranuclear palsy | 24 | |
DOID:11234 | Orbital cellulitis | 4 | |
DOID:674 | Cleft palate | 100 | |
DOID:676 | Juvenile rheumatoid arthritis | 25 | |
DOID:2030 | Anxiety disorder | 21 | |
DOID:10325 | Silicosis | 4 | |
DOID:6245 | Renal oncocytoma | 19 | |
DOID:10323 | Byssinosis | 4 | |
DOID:0060131 | Alexithymia | 16 | |
DOID:10328 | Siderosis | 9 | |
DOID:0060135 | Apraxia | 24 | |
DOID:7608 | Parathyroid adenoma | 13 | |
DOID:11175 | Enophthalmos | 13 | |
DOID:11121 | Pulpitis | 6 | |
DOID:11123 | Henoch-Schoenlein purpura | 9 | |
DOID:12678 | Hypercalcemia | 35 | |
DOID:12679 | Nephrocalcinosis | 12 | |
DOID:0060680 | Pigment dispersion syndrome | 10 | |
DOID:0060681 | Autosomal dominant nocturnal frontal lobe epilepsy | 4 | |
DOID:1602 | Lymphadenitis | 13 | |
DOID:0060689 | Atrichia with papular lesions | 8 | |
DOID:0060046 | Aphasia | 20 | |
DOID:0060041 | Autism spectrum disorder | 39 | |
DOID:0060042 | Atypical autism | 24 | |
DOID:7465 | Chronic NK-cell lymphocytosis | 6 | |
DOID:0050214 | Lambert-Eaton myasthenic syndrome | 14 | |
DOID:0080046 | Stickler syndrome | 13 | |
DOID:0060668 | Anencephaly | 22 | |
DOID:9869 | Hereditary fructose intolerance syndrome | 6 | |
DOID:299 | Adenocarcinoma | 13 | |
DOID:0060260 | Ptosis | 48 | |
DOID:0060261 | Congenital ptosis | 6 | |
DOID:1731 | Histoplasmosis | 10 | |
DOID:0060264 | Pontocerebellar hypoplasia | 35 | |
DOID:0060599 | Nance-Horan syndrome | 24 | |
DOID:1754 | Mitral valve stenosis | 9 | |
DOID:1558 | Angioedema | 21 | |
DOID:5614 | Eye disease | 50 | |
DOID:0060283 | Peeling skin syndrome | 15 | |
DOID:13074 | Tinea unguium | 4 | |
DOID:1556 | Arthus reaction | 7 | |
DOID:1555 | Urticaria | 38 | |
DOID:5940 | Malignant peripheral nerve sheath tumor | 7 | |
DOID:12241 | Beta thalassemia | 5 | |
DOID:6088 | Acute stress disorder | 6 | |
DOID:9266 | Cystinuria | 17 | |
DOID:0050585 | Congenital generalized lipodystrophy | 6 | |
DOID:9261 | Nasopharynx carcinoma | 18 | |
DOID:9263 | Homocystinuria | 18 | |
DOID:5295 | Intestinal disease | 7 | |
DOID:0050523 | Adult T-cell leukemia | 4 | |
DOID:9268 | Glycine encephalopathy | 30 | |
DOID:9269 | Maple syrup urine disease | 23 | |
DOID:9463 | Otitis externa | 5 | |
DOID:9461 | Exposure keratitis | 5 | |
DOID:9467 | nail-patella syndrome | 15 | |
DOID:0060468 | Holt-Oram syndrome | 10 | |
DOID:0060469 | Miller-Dieker lissencephaly syndrome | 18 | |
DOID:0060466 | Gingival fibromatosis | 14 | |
DOID:0060464 | Feingold syndrome | 11 | |
DOID:0060465 | Fibrochondrogenesis | 7 | |
DOID:0060462 | Desbuquois dysplasia | 11 | |
DOID:0060323 | Breast abscess | 5 | |
DOID:10112 | Sleeping sickness | 38 | |
DOID:0060322 | Mastoiditis | 6 | |
DOID:3602 | Toxic encephalopathy | 135 | |
DOID:0050961 | Spinocerebellar ataxia type 11 | 4 | |
DOID:9282 | Ocular hypertension | 22 | |
DOID:9281 | Phenylketonuria | 22 | |
DOID:9286 | Priapism | 4 | |
DOID:11725 | Cornelia de Lange syndrome | 20 | |
DOID:9146 | Visceral leishmaniasis | 13 | |
DOID:5723 | Optic atrophy | 38 | |
DOID:0110826 | Usher syndrome type 1 | 10 | |
DOID:0060326 | Myelomeningocele | 13 | |
DOID:0110823 | Hereditary spastic paraplegia 8 | 7 | |
DOID:0050967 | Spinocerebellar ataxia type 17 | 7 | |
DOID:2772 | Irritant dermatitis | 7 | |
DOID:0050634 | Alopecia universalis | 8 | |
DOID:0050630 | Aland Island eye disease | 9 | |
DOID:0050631 | Allan-Herndon-Dudley syndrome | 7 | |
DOID:9600 | Plantar fasciitis | 9 | |
DOID:0050633 | Ocular albinism | 27 | |
DOID:0050639 | Primary cutaneous amyloidosis | 28 | |
DOID:0050185 | Erythema multiforme | 11 | |
DOID:4411 | Hepatitis E | 12 | |
DOID:0050858 | Marshall-Smith syndrome | 5 | |
DOID:4415 | Fibrous histiocytoma | 7 | |
DOID:0080001 | Bone disease | 9 | |
DOID:3770 | Pulmonary fibrosis | 25 | |
DOID:0050855 | Renal fibrosis | 6 | |
DOID:0050856 | Oppositional defiant disorder | 17 | |
DOID:0050857 | Perrault syndrome | 18 | |
DOID:0050852 | Limb ischemia | 14 | |
DOID:870 | Neuropathy | 223 | |
DOID:5435 | Variant Creutzfeldt-Jakob disease | 15 | |
DOID:5434 | Scrapie | 13 | |
DOID:3350 | Mesenchymal cell neoplasm | 5 | |
DOID:10533 | Viral pneumonia | 4 | |
DOID:0050450 | Gitelman syndrome | 6 | |
DOID:0050452 | Mevalonic aciduria | 18 | |
DOID:0050453 | Lissencephaly | 59 | |
DOID:0050454 | Periventricular nodular heterotopia | 29 | |
DOID:0050987 | Hypomyelinating leukoencephalopathy | 6 | |
DOID:13481 | Thanatophoric dysplasia | 6 | |
DOID:0050459 | Hyperphosphatemia | 29 | |
DOID:423 | Myopathy | 116 | |
DOID:3559 | Pseudomyxoma peritonei | 6 | |
DOID:14087 | Epicondylitis | 18 | |
DOID:4257 | Caffey disease | 4 | |
DOID:4254 | Osteosclerosis | 10 | |
DOID:4252 | Alexander disease | 9 | |
DOID:4253 | Melorheostosis | 4 | |
DOID:4250 | Conjunctivochalasis | 6 | |
DOID:3210 | Pelizaeus-Merzbacher disease | 13 | |
DOID:0050830 | Peripheral artery disease | 10 | |
DOID:10632 | Wolfram syndrome | 10 | |
DOID:13501 | Mobius syndrome | 4 | |
DOID:5426 | Premature ovarian failure | 59 | |
DOID:12119 | Hemosiderosis | 4 | |
DOID:2951 | Motion sickness | 21 | |
DOID:12117 | Pulmonary alveolar microlithiasis | 4 | |
DOID:0060190 | Ileocolitis | 4 | |
DOID:2738 | Pseudoxanthoma elasticum | 15 | |
DOID:0080178 | Mucositis | 26 | |
DOID:2733 | Skin atrophy | 15 | |
DOID:0080177 | Hepatic veno-occlusive disease | 14 | |
DOID:0080174 | Bladder exstrophy | 19 | |
DOID:2730 | Epidermolysis bullosa | 21 | |
DOID:0080172 | Thiopurine S-methyltransferase deficiency | 5 | |
DOID:2736 | Hajdu-Cheney syndrome | 4 | |
DOID:3393 | Coronary artery disease | 214 | |
DOID:3390 | Palmoplantar keratosis | 38 | |
DOID:1803 | Neuritis | 5 | |
DOID:0110381 | Retinitis pigmentosa 14 | 6 | |
DOID:906 | Peroxisomal disease | 21 | |
DOID:905 | Zellweger syndrome | 34 | |
DOID:452 | Pleomorphic adenoma | 17 | |
DOID:13444 | Glanders | 5 | |
DOID:0060868 | Leukoencephalopathy with vanishing white matter | 17 | |
DOID:0060869 | late-onset retinal degenration | 11 | |
DOID:11695 | Portal vein thrombosis | 11 | |
DOID:0060862 | Mal de Meleda | 6 | |
DOID:0060861 | Microphthalmia with limb anomalies | 40 | |
DOID:0110633 | Rigid spine muscular dystrophy 1 | 13 | |
DOID:12803 | Sly syndrome | 4 | |
DOID:12802 | Mucopolysaccharidosis I | 4 | |
DOID:12801 | Mucopolysaccharidosis III | 7 | |
DOID:12800 | Mucopolysaccharidosis VI | 6 | |
DOID:75 | Lymphatic system disease | 14 | |
DOID:76 | Stomach disease | 6 | |
DOID:77 | Gastrointestinal system disease | 46 | |
DOID:10247 | Pleurisy | 15 | |
DOID:10242 | Ehrlichiosis | 9 | |
DOID:10241 | Thalassemia | 56 | |
DOID:13994 | Cleidocranial dysplasia | 10 | |
DOID:0110843 | Xeroderma pigmentosum group A | 4 | |
DOID:10907 | Microcephaly | 151 | |
DOID:2602 | Chondroma | 12 | |
DOID:4947 | Cholangiocarcinoma | 24 | |
DOID:12351 | Alcoholic hepatitis | 4 | |
DOID:0110704 | Hypotrichosis 7 | 4 | |
DOID:0110703 | Hypotrichosis 6 | 4 | |
DOID:8736 | Smallpox | 18 | |
DOID:0002116 | Pterygium | 12 | |
DOID:0110527 | Autosomal recessive nonsyndromic deafness 8 | 5 | |
DOID:8955 | Sideroblastic anemia | 10 | |
DOID:8956 | Cowpox | 16 | |
DOID:11200 | T cell deficiency | 7 | |
DOID:11202 | Primary hyperparathyroidism | 5 | |
DOID:14323 | Marfan syndrome | 7 | |
DOID:11206 | Opioid abuse | 5 | |
DOID:607 | Paraplegia | 64 | |
DOID:6255 | Growth hormone secreting pituitary adenoma | 5 | |
DOID:2047 | Hepatitis D | 9 | |
DOID:2043 | Hepatitis B | 80 | |
DOID:2048 | Autoimmune hepatitis | 9 | |
DOID:0060125 | Heavy chain disease | 6 | |
DOID:8886 | Chorioretinitis | 5 | |
DOID:8557 | Oropharynx cancer | 6 | |
DOID:8553 | Pyoderma gangrenosum | 8 | |
DOID:8552 | Chronic myeloid leukemia | 9 | |
DOID:2935 | Chediak-Higashi syndrome | 24 | |
DOID:900 | Hepatopulmonary syndrome | 6 | |
DOID:986 | Alopecia areata | 30 | |
DOID:12663 | Blastomycosis | 8 | |
DOID:12662 | Paracoccidioidomycosis | 7 | |
DOID:112 | Esophageal varix | 13 | |
DOID:0060695 | Hyperekplexia | 15 | |
DOID:11111 | Hydronephrosis | 22 | |
DOID:0060699 | Familial hypocalciuric hypercalcemia | 17 | |
DOID:11119 | Gilles de la Tourette syndrome | 45 | |
DOID:0060055 | Popliteal pterygium syndrome | 6 | |
DOID:0060216 | Cogan syndrome | 4 | |
DOID:6652 | Diffuse idiopathic skeletal hyperostosis | 6 | |
DOID:0060058 | Lymphoma | 31 | |
DOID:1389 | Polyneuropathy | 31 | |
DOID:1388 | Tangier disease | 10 | |
DOID:6725 | Spinal stenosis | 16 | |
DOID:4267 | Akinetic mutism | 6 | |
DOID:1380 | Endometrial cancer | 5 | |
DOID:0060673 | Peters anomaly | 15 | |
DOID:1386 | Abetalipoproteinemia | 7 | |
DOID:0060671 | Cerebral cavernous malformation 3 | 5 | |
DOID:9857 | Interstitial keratitis | 4 | |
DOID:9854 | lingual-facial-buccal dyskinesia | 9 | |
DOID:0060604 | Ankyloglossia | 12 | |
DOID:14482 | Herpes gestationis | 7 | |
DOID:0060589 | Yunis-Varon syndrome | 6 | |
DOID:14500 | Fucosidosis | 9 | |
DOID:0060350 | Adenine phosphoribosyltransferase deficiency | 6 | |
DOID:14502 | Cholesterol ester storage disease | 6 | |
DOID:14503 | Neuronal ceroid lipofuscinosis | 27 | |
DOID:14504 | Niemann-Pick disease | 14 | |
DOID:3405 | Histiocytosis | 12 | |
DOID:1702 | Ichthyosis vulgaris | 11 | |
DOID:1700 | X-linked ichthyosis | 19 | |
DOID:11976 | Botulism | 22 | |
DOID:11971 | Synostosis | 14 | |
DOID:3328 | Temporal lobe epilepsy | 6 | |
DOID:5608 | Dental pulp calcification | 5 | |
DOID:1562 | Chromoblastomycosis | 7 | |
DOID:12270 | Coloboma | 47 | |
DOID:12271 | Aniridia | 23 | |
DOID:12273 | Anisometropia | 13 | |
DOID:4310 | Smooth muscle tumor | 11 | |
DOID:1099 | Alpha thalassemia | 9 | |
DOID:1094 | Attention deficit hyperactivity disorder | 78 | |
DOID:9923 | Developmental coordination disorder | 8 | |
DOID:1227 | Neutropenia | 61 | |
DOID:0050536 | SC phocomelia syndrome | 4 | |
DOID:0050535 | Exudative vitreoretinopathy | 16 | |
DOID:0050534 | Congenital stationary night blindness | 21 | |
DOID:0060479 | Shwachman-Diamond syndrome | 18 | |
DOID:9455 | Lipid storage disease | 5 | |
DOID:1148 | Polydactyly | 94 | |
DOID:5119 | Ovarian cyst | 4 | |
DOID:0060471 | Fetal valproate syndrome | 4 | |
DOID:331 | Central nervous system disease | 5 | |
DOID:0060473 | Kabuki syndrome | 24 | |
DOID:0060472 | Kindler syndrome | 11 | |
DOID:5113 | Nutritional deficiency disease | 8 | |
DOID:1415 | Gyrate atrophy | 7 | |
DOID:0110276 | Autosomal recessive limb-girdle muscular dystrophy type 2B | 4 | |
DOID:4644 | Epidermolysis bullosa simplex | 8 | |
DOID:11801 | protein-energy malnutrition | 8 | |
DOID:3948 | Adrenocortical carcinoma | 10 | |
DOID:5732 | Pyosalpinx | 4 | |
DOID:5733 | Salpingitis | 6 | |
DOID:1891 | Optic nerve disease | 9 | |
DOID:4418 | Cutaneous fibrous histiocytoma | 17 | |
DOID:12397 | Entropion | 13 | |
DOID:9631 | Pelger-Huet anomaly | 6 | |
DOID:9637 | Stomatitis | 14 | |
DOID:0050194 | Argentine hemorrhagic fever | 10 | |
DOID:12583 | Velocardiofacial syndrome | 38 | |
DOID:12580 | Cri-Du-Chat syndrome | 14 | |
DOID:12581 | Olecranon bursitis | 4 | |
DOID:4731 | Atrophic rhinitis | 7 | |
DOID:0050629 | Aicardi-Goutieres syndrome | 18 | |
DOID:0050628 | Advanced sleep phase syndrome | 10 | |
DOID:4465 | Papillary renal cell carcinoma | 5 | |
DOID:4467 | Renal clear cell carcinoma | 6 | |
DOID:10587 | Krabbe disease | 12 | |
DOID:0080016 | Spina bifida | 37 | |
DOID:0080019 | Metaphyseal dysplasia | 11 | |
DOID:0080018 | Dysbaric osteonecrosis | 4 | |
DOID:9149 | Hard palate cancer | 11 | |
DOID:0050840 | Cervical dystonia | 12 | |
DOID:1969 | Cerebral palsy | 27 | |
DOID:845 | Cyclothymic disorder | 9 | |
DOID:13223 | Uterine fibroid | 26 | |
DOID:1967 | Leiomyosarcoma | 14 | |
DOID:848 | Arthritis | 184 | |
DOID:5425 | Ovarian hyperstimulation syndrome | 19 | |
DOID:12053 | Cryptococcosis | 16 | |
DOID:0050441 | Mucosulfatidosis | 5 | |
DOID:0050440 | Familial partial lipodystrophy | 8 | |
DOID:0050444 | Infantile Refsum disease | 18 | |
DOID:0050449 | Pachyonychia congenita | 10 | |
DOID:0050448 | Hereditary mucosal leukokeratosis | 7 | |
DOID:12297 | Vogt-Koyanagi-Harada disease | 6 | |
DOID:12294 | Atypical depressive disorder | 7 | |
DOID:9700 | Bacterial conjunctivitis | 5 | |
DOID:2548 | Reflex epilepsy | 4 | |
DOID:6925 | Peroneal nerve paralysis | 10 | |
DOID:599 | Specific phobia | 4 | |
DOID:0050657 | Bannayan-Riley-Ruvalcaba syndrome | 6 | |
DOID:594 | Panic disorder | 35 | |
DOID:11599 | Frey syndrome | 5 | |
DOID:2544 | Extratemporal epilepsy | 5 | |
DOID:9271 | Ornithine carbamoyltransferase deficiency | 13 | |
DOID:593 | Agoraphobia | 16 | |
DOID:3010 | Lobular neoplasia | 15 | |
DOID:3012 | Li-Fraumeni syndrome | 10 | |
DOID:11755 | Choledocholithiasis | 9 | |
DOID:9905 | Follicular mucinosis | 4 | |
DOID:11758 | Iron deficiency anemia | 4 | |
DOID:11759 | Hypochromic anemia | 7 | |
DOID:12557 | Duane retraction syndrome | 8 | |
DOID:12120 | Pulmonary alveolar proteinosis | 14 | |
DOID:10629 | Microphthalmia | 73 | |
DOID:13533 | Osteopetrosis | 39 | |
DOID:2945 | Severe acute respiratory syndrome | 23 | |
DOID:12129 | Bulimia nervosa | 11 | |
DOID:2942 | Bronchiolitis | 14 | |
DOID:4851 | Pilocytic astrocytoma | 7 | |
DOID:3491 | Turner syndrome | 21 | |
DOID:3490 | Noonan syndrome | 32 | |
DOID:3492 | Mixed connective tissue disease | 17 |
ID | Description | # Genes | Add |
---|---|---|---|
C1850415 | Microvesicular steatosis (disorder) | 6 | |
C1855179 | CATARACT, ANTERIOR POLAR | 6 | |
C0020461 | Hyperkalemia | 17 | |
C0947912 | Myasthenias | 8 | |
C0332606 | Elfin facies | 10 | |
C1838604 | EPILEPSY, CHILDHOOD ABSENCE, 1 | 6 | |
C1838979 | MITOCHONDRIAL COMPLEX I DEFICIENCY | 16 | |
C1838608 | Radial aplasia | 15 | |
C1837407 | Ankle contracture | 9 | |
C1837404 | High, narrow palate | 32 | |
C1837402 | Flat occiput | 26 | |
C0043352 | Xerostomia | 42 | |
C0231835 | Tachypnea | 20 | |
C0027659 | Neoplasms, Experimental | 35 | |
C0027658 | Neoplasms, Germ Cell and Embryonal | 13 | |
C1963946 | Laryngeal dystonia | 5 | |
C0521007 | Hypophonia | 7 | |
C1855285 | Protruding ears | 56 | |
C0240538 | Convex nasal ridge | 37 | |
C0085183 | Neoplasms, Second Primary | 6 | |
C1851102 | Fibrosis Of Extraocular Muscles, Congenital, 1 | 4 | |
C1856732 | Hypoplastic/aplastic fibulae | 5 | |
C4048199 | Ulnar deviation of the hand or of fingers of the hand | 4 | |
C0020564 | Hypertrophy | 15 | |
C1839739 | Prominent lower lip | 64 | |
C1839731 | 11 pairs of ribs | 7 | |
C4024742 | Aplasia/Hypoplasia of the macula | 8 | |
C4024748 | Aplasia/Hypoplasia of the iris | 10 | |
C0265677 | Congenital hemivertebra | 25 | |
C0149754 | Cellulitis of periorbital region | 13 | |
C2051831 | Pectus excavatum | 100 | |
C1854418 | Biparietal narrowing | 28 | |
C0030319 | Panic Disorder | 5 | |
C4024682 | Hypoplastic fifth fingernail | 5 | |
C0030312 | Pancytopenia | 36 | |
C0340543 | Familial primary pulmonary hypertension | 11 | |
C1836653 | Ascending aortic dissection | 13 | |
C0240953 | Winged scapula | 23 | |
C0026351 | Moderate mental retardation (I.Q. 35-49) | 28 | |
C0423808 | Brachyonychia | 6 | |
C0423807 | Overcurvature of nail | 6 | |
C0019158 | Hepatitis | 24 | |
C0162666 | Mitochondrial Encephalomyopathies | 7 | |
C0019151 | Hepatic Encephalopathy | 15 | |
C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 6 | |
C0041296 | Tuberculosis | 4 | |
C4025167 | Abnormal vertebral segmentation and fusion | 5 | |
C3552713 | Talipes foot deformities | 20 | |
C1868578 | Patellar aplasia | 8 | |
C4280678 | Posterior displacement of the tongue | 10 | |
C4280679 | Increased calcium level in kidney | 21 | |
C4280674 | Agenesis of parotid duct | 4 | |
C1868571 | Thick, flared eyebrows | 41 | |
C4280670 | Spider veins of the lip | 4 | |
C4280671 | Angioectasias of the lip | 4 | |
C4280672 | Decrease in jaw opening | 5 | |
C0021831 | Intestinal Diseases | 11 | |
C0027404 | Narcolepsy | 16 | |
C0043094 | Weight Gain | 100 | |
C0001418 | Adenocarcinoma | 113 | |
C3806443 | Puffy cheeks | 50 | |
C1856904 | Reduced pancreatic beta cells | 6 | |
C4280495 | Concave bridge of nose | 195 | |
C0003811 | Cardiac Arrhythmia | 88 | |
C1837098 | Easy fatigability | 18 | |
C0741796 | Recurrent bronchitis | 22 | |
C0017086 | Gangrene | 4 | |
C1837091 | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | 4 | |
C0003486 | Aortic Aneurysm | 10 | |
C0033953 | Psychosexual Disorders | 6 | |
C1858672 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 | 7 | |
C0747556 | pharyngitis recurrent | 4 | |
C1861388 | Short 5th metacarpal | 5 | |
C1858679 | CATARACT, AUTOSOMAL DOMINANT | 4 | |
C0700078 | Decreased tendon reflex | 123 | |
C1850087 | Narrow sacroiliac notch | 4 | |
C4021910 | Narrow foramen obturatorium | 5 | |
C4021664 | Abnormality of the abdominal wall | 10 | |
C0080024 | Piebaldism | 8 | |
C0262404 | Cerebellar degeneration | 102 | |
C0013238 | Dry Eye Syndromes | 8 | |
C0206682 | Follicular thyroid carcinoma | 7 | |
C1837899 | Isoelectric focusing of serum transferrin consistent with CDG type I | 10 | |
C2265792 | Skeletal muscle hypertrophy | 16 | |
C1969363 | Onset in middle age | 4 | |
C0035334 | Retinitis Pigmentosa | 174 | |
C0399440 | Hereditary gingival fibromatosis | 8 | |
C0022578 | Keratoconus | 63 | |
C1855340 | Bowing of the long bones | 31 | |
C1290857 | Disorder of face | 10 | |
C1840457 | Loss of retinal pigment epithelium | 10 | |
C0241054 | Skin bulla | 55 | |
C0265319 | Fibrous skin tumor of tuberous sclerosis | 18 | |
C0022573 | Keratoconjunctivitis | 4 | |
C0266667 | Cyclocephaly | 4 | |
C0006267 | Bronchiectasis | 39 | |
C4072857 | Focal absence of scalp tissue | 5 | |
C0878660 | Proportionate short stature | 4 | |
C4072858 | Solitary scalp defect | 5 | |
C0041105 | Trismus | 6 | |
C1167664 | Situs ambiguous | 8 | |
C0424448 | Mask-like facies | 25 | |
C0595948 | Atypical absence seizure | 5 | |
C0020179 | Huntington Disease | 12 | |
C0024809 | Marijuana Abuse | 33 | |
C1277241 | Delayed myelination | 22 | |
C0000731 | Abdomen distended | 43 | |
C0000737 | Abdominal Pain | 92 | |
C1842364 | Central hypotonia | 5 | |
C0425795 | Absent nipple (finding) | 4 | |
C0853897 | Diabetic Cardiomyopathies | 10 | |
C4024171 | Abnormality of secondary sexual hair | 6 | |
C1842688 | Hypoplasia of the brainstem | 22 | |
C0026919 | Mycobacterium Infections, Nontuberculous | 5 | |
C2613439 | Extramedullary Hematopoiesis (disorder) | 5 | |
C1842680 | Hypoplastic lobules | 11 | |
C0392163 | Corneal erosion | 16 | |
C0234985 | Mental deterioration | 32 | |
C0015379 | Extravasation of Diagnostic and Therapeutic Materials | 6 | |
C0036202 | Sarcoidosis | 9 | |
C1844554 | Absent fingernails | 7 | |
C0277959 | Coarse hair | 31 | |
C0339534 | Usher syndrome type 2 | 5 | |
C0339535 | Night blindness, congenital stationary | 14 | |
C0438237 | Liver enzymes abnormal | 80 | |
C0042024 | Urinary Incontinence | 37 | |
C0339539 | Familial Exudative Vitreoretinopathy | 5 | |
C0005741 | Blepharitis | 17 | |
C0024121 | Lung Neoplasms | 183 | |
C0005745 | Blepharoptosis | 224 | |
C0541794 | Skeletal muscle atrophy | 138 | |
C0005747 | Blepharospasm | 11 | |
C3277697 | Decreased visual acuity, progressive | 36 | |
C0025521 | Inborn Errors of Metabolism | 16 | |
C4280807 | Flattening of cranial vault | 20 | |
C4280806 | Calcium oxalate kidney stones | 5 | |
C0600031 | Congenital absence of spleen | 10 | |
C0520736 | Coombs positive hemolytic anemia | 4 | |
C1140680 | Malignant neoplasm of ovary | 4 | |
C0426808 | Long clavicle | 7 | |
C0334488 | Clear cell sarcoma of kidney | 5 | |
C1837463 | Narrow face | 54 | |
C3179508 | Thumb absent or hypoplastic | 9 | |
C3278811 | Thumb aplasia | 16 | |
C1865872 | NEPHRONOPHTHISIS 2 | 5 | |
C1865877 | Renal cortical microcysts | 4 | |
C0426801 | Broad clavicle | 5 | |
C0376545 | Hematologic Neoplasms | 22 | |
C4072841 | J-shaped hypophysial fossa | 6 | |
C0743912 | Increased ferritin | 14 | |
C1855119 | Methylmalonic aciduria | 9 | |
C0029295 | Oropharyngeal Neoplasms | 4 | |
C0016057 | Fibrosarcoma | 5 | |
C1856136 | Peg-shaped incisors | 6 | |
C0431478 | Posteriorly rotated ear | 61 | |
C0271388 | Pendular Nystagmus | 14 | |
C0271385 | Horizontal Nystagmus | 10 | |
C1839531 | Protein avoidance | 5 | |
C0231678 | Ulnar deviation of the wrist | 8 | |
C0231679 | Ulnar deviation of the fingers | 21 | |
C0007384 | Cataplexy | 11 | |
C0009952 | Febrile Convulsions | 14 | |
C0020542 | Pulmonary Hypertension | 67 | |
C0020541 | Hypertension, Portal | 22 | |
C3279149 | Liver dysfunction, mild | 24 | |
C0020545 | Hypertension, Renovascular | 10 | |
C3549698 | Coxa valga deformity | 22 | |
C0006384 | Bundle-Branch Block | 8 | |
C0006386 | Bunion | 26 | |
C3840083 | Late closure of anterior fontanel | 11 | |
C1740801 | Exaggerated startle response | 8 | |
C0007273 | Carotid Artery Diseases | 11 | |
C0423798 | Increased tendency to bruise | 66 | |
C0751837 | Gait Ataxia | 51 | |
C1859312 | CAMFAK syndrome | 4 | |
C1395852 | Polydactyly preaxial type 1 | 9 | |
C0036920 | Sezary Syndrome | 27 | |
C3814530 | Skin Vesicle | 5 | |
C1333989 | Familial meningioma | 4 | |
C2674608 | Feeding difficulties in infancy | 175 | |
C1691228 | Cystic Kidney Diseases | 6 | |
C1442903 | Exostoses | 11 | |
C0239067 | Difficulty walking up stairs | 12 | |
C0004604 | Back Pain | 7 | |
C0038002 | Splenomegaly | 187 | |
C1832776 | Hypertrophic nerve changes | 5 | |
C0424304 | Inappropriate laughter | 4 | |
C0008924 | Cleft Lip | 78 | |
C0008925 | Cleft Palate | 199 | |
C0549473 | Thyroid carcinoma | 5 | |
C4024818 | Night blindness, progressive | 51 | |
C4021533 | Severe sensorineural hearing impairment | 5 | |
C4021826 | Abnormality of the renal tubule | 7 | |
C4024817 | Vitelliform-like macular lesions | 4 | |
C4025639 | Prolonged G2 phase of cell cycle | 4 | |
C4025630 | Abnormal bone structure | 4 | |
C1853562 | Adult onset | 83 | |
C0751651 | Mitochondrial Diseases | 9 | |
C0349506 | Photosensitivity of skin | 53 | |
C4280652 | Prominent back of the head | 21 | |
C4280653 | Turridolichocephaly | 76 | |
C4280651 | Hypotrophic malar bone | 130 | |
C4280656 | Narrow cranium shape | 76 | |
C4280654 | Narrow skull shape | 76 | |
C4280655 | Narrow head shape | 76 | |
C0036690 | Septicemia | 6 | |
C4280658 | Malformation of cranium shape | 5 | |
C0238339 | Hereditary pancreatitis | 5 | |
C3806467 | Respiratory insufficiency due to muscle weakness | 37 | |
C1844374 | Persistent bleeding after trauma | 6 | |
C1849538 | Delayed eruption of primary teeth | 10 | |
C0752308 | Hypoxia-Ischemia, Brain | 5 | |
C2937358 | Cerebral Hemorrhage | 40 | |
C4021395 | Abnormality of the antihelix | 10 | |
C4021390 | Symphalangism affecting the phalanges of the hand | 5 | |
C0017205 | Gaucher Disease | 4 | |
C1258104 | Diffuse Scleroderma | 5 | |
C3280770 | Cerebellar vermis aplasia or hypoplasia | 12 | |
C4021020 | Non-midline cleft lip | 6 | |
C0339284 | Polymorphous corneal dystrophy | 4 | |
C0035317 | Retinal Hemorrhage | 6 | |
C1847879 | X-linked dominant | 57 | |
C0035313 | Retinal Dysplasia | 11 | |
C0544755 | Genu varum | 29 | |
C0241074 | Skin hyperelastic | 31 | |
C1859126 | Stippled epiphyses | 28 | |
C0023176 | Lead Poisoning | 6 | |
C1848918 | Increased startle response | 8 | |
C0268318 | Cholestasis of pregnancy | 5 | |
C1306889 | Peripheral arterial occlusive disease | 4 | |
C0265998 | ANONYCHIA | 20 | |
C4072879 | Small cheekbone | 22 | |
C0431448 | Absent eyebrow | 13 | |
C0685381 | Congenital hypoplasia of radius | 23 | |
C0431447 | Synophrys | 40 | |
C0029882 | Otitis Media | 21 | |
C0026010 | Microphthalmos | 100 | |
C0085084 | Motor Neuron Disease | 4 | |
C0023283 | Leishmaniasis, Cutaneous | 8 | |
C1860105 | Severe short-limb dwarfism | 4 | |
C4023722 | Abnormality of hair texture | 5 | |
C2229182 | Psychomotor retardation, mild | 14 | |
C0040997 | Trigeminal Neuralgia | 12 | |
C1862855 | Sparse to absent eyelashes | 7 | |
C1850530 | Flexion contractures of joints | 93 | |
C0029089 | Ophthalmoplegia | 83 | |
C0085660 | Aseptic necrosis | 8 | |
C0085661 | Onycholysis | 6 | |
C1846460 | Malformed pinnae | 37 | |
C0220983 | Metabolic alkalosis | 4 | |
C1857679 | Sloping forehead | 46 | |
C0034194 | Pyloric Stenosis | 38 | |
C0240701 | Small penis | 5 | |
C0266642 | Situs ambiguus | 25 | |
C0020488 | Hypernatremia | 5 | |
C0497156 | Lymphadenopathy | 61 | |
C0023827 | liposarcoma | 4 | |
C0542346 | Pimples | 10 | |
C1835614 | Hereditary Hyperexplexia | 4 | |
C0265736 | Congenital anomaly of nose | 4 | |
C0266427 | Testicular regression syndrome | 9 | |
C0266423 | Congenital anomaly of testis | 52 | |
C4024159 | Aplasia/Hypoplasia involving the nose | 5 | |
C0427515 | Neutrophil abnormality | 20 | |
C3164374 | Abnormality of pulmonary valve | 23 | |
C4025823 | Abnormality of the endocrine system | 9 | |
C4025821 | Anterior hypopituitarism | 17 | |
C0015310 | Exotropia | 25 | |
C0339510 | Vitelliform Macular Dystrophy | 4 | |
C0018671 | Head and Neck Neoplasms | 26 | |
C0042594 | Vestibular Diseases | 7 | |
C1832348 | Slow-growing hair | 19 | |
C3805839 | Central hypoventilation | 8 | |
C0025500 | Mesothelioma | 39 | |
C0410264 | Contracture of tendo achilles | 10 | |
C4021254 | Cutaneous finger syndactyly | 11 | |
C0237849 | Peeling of skin | 8 | |
C0008711 | Chronic rhinitis | 5 | |
C0018099 | Gout | 13 | |
C1260899 | Anemia, Diamond-Blackfan | 16 | |
C1833762 | Soft calvaria | 8 | |
C1858565 | Duplicated collecting system | 7 | |
C0263454 | Chloracne | 33 | |
C0031900 | Pierre Robin Syndrome | 11 | |
C0346153 | Breast Cancer, Familial | 8 | |
C0009398 | Color vision defect | 33 | |
C0001627 | Congenital adrenal hyperplasia | 11 | |
C0001624 | Adrenal Gland Neoplasms | 11 | |
C0001623 | Adrenal gland hypofunction | 9 | |
C1850456 | Progressive microcephaly | 32 | |
C1850327 | Bifid uterus | 4 | |
C0031154 | Peritonitis | 6 | |
C0035455 | Rhinitis | 14 | |
C1856119 | Low hanging columella | 4 | |
C0151480 | Anti-nuclear factor positive | 18 | |
C0079744 | Diffuse Large B-Cell Lymphoma | 34 | |
C0333913 | Achromasia | 11 | |
C1861195 | Glanzmann Thrombasthenia, Autosomal Dominant | 4 | |
C1176475 | Ductal Carcinoma | 4 | |
C0034088 | Pulmonary Valve Insufficiency | 5 | |
C1610065 | Urethral atresia | 4 | |
C0026884 | Mutism | 10 | |
C0085413 | Polycystic Kidney, Autosomal Dominant | 6 | |
C0018564 | Hand deformities | 32 | |
C0546125 | Nemaline Myopathy, Childhood Onset | 6 | |
C0271901 | Microcytic hypochromic anemia (disorder) | 11 | |
C1857790 | Thoracic scoliosis | 4 | |
C0392775 | Cystic medial necrosis of aorta | 13 | |
C0392777 | Poikiloderma | 14 | |
C0003504 | Aortic Valve Insufficiency | 30 | |
C0232943 | Intermenstrual heavy bleeding | 4 | |
C0023343 | Leprosy | 10 | |
C1848490 | Protruding eyes | 96 | |
C1845977 | X- linked recessive | 110 | |
C0030353 | Papilledema | 7 | |
C2053437 | Full lower lip | 64 | |
C0030354 | Papilloma | 25 | |
C0340279 | Ventricular hypertrophy | 6 | |
C0007196 | Restrictive cardiomyopathy | 5 | |
C0038160 | Staphylococcal Infections | 4 | |
C1834752 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) | 11 | |
C0266362 | Ambiguous Genitalia | 24 | |
C0266361 | True Hermaphroditism (disorder) | 4 | |
C0424323 | Physical aggression | 76 | |
C4024956 | Grammar-specific speech disorder | 6 | |
C0155016 | Color Blindness, Red-Green | 4 | |
C2227134 | mandibular excess (physical finding) | 78 | |
C0554101 | Villous atrophy | 16 | |
C4025615 | Decreased size of nerve terminals | 4 | |
C4025614 | EMG: chronic denervation signs | 4 | |
C4025616 | CNS hypomyelination | 17 | |
C3152144 | AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE | 7 | |
C0751674 | Lymphangioleiomyomatosis | 5 | |
C1853230 | Aphakia, congenital primary | 5 | |
C1853237 | Isolated cases | 73 | |
C1853235 | Sclerocornea | 14 | |
C0017665 | Membranous glomerulonephritis | 7 | |
C3496069 | cocaine use | 11 | |
C1842231 | Broad metatarsals | 5 | |
C0027443 | Natal Teeth | 9 | |
C0403553 | Renal dysplasia and retinal aplasia (disorder) | 10 | |
C1849478 | Increased red cell osmotic fragility | 4 | |
C0027765 | nervous system disorder | 52 | |
C4082304 | Oligodontia | 24 | |
C0157733 | hair abnormalities (non-specific) | 30 | |
C0018790 | Cardiac Arrest | 10 | |
C0014549 | Tonic-Clonic Epilepsy | 10 | |
C0018799 | Heart Diseases | 42 | |
C0005283 | beta Thalassemia | 10 | |
C0521694 | Atrophic retina | 7 | |
C3152182 | Anterior chamber anomalies | 4 | |
C1836189 | Radially deviated fingers | 38 | |
C1836184 | Short femoral neck | 15 | |
C4021626 | Lethal skeletal dysplasia | 6 | |
C0752323 | Focal Clonic Seizures | 9 | |
C0877792 | Sleep Disorders, Circadian Rhythm | 4 | |
C0334588 | Giant Cell Glioblastoma | 12 | |
C0262444 | Dental abnormalities | 60 | |
C0334583 | Pilocytic Astrocytoma | 7 | |
C1850848 | Muscle fiber necrosis | 6 | |
C0002452 | Amelogenesis Imperfecta | 14 | |
C0231791 | Toeing-in | 24 | |
C0339268 | Arcus juvenilis | 5 | |
C1848701 | Elevated hepatic transaminases | 80 | |
C1865992 | Short hallux | 16 | |
C0003857 | Congenital arteriovenous malformation | 8 | |
C0003850 | Arteriosclerosis | 11 | |
C1855650 | Birth length less than 3rd percentile | 6 | |
C0018939 | Hematological Disease | 18 | |
C0018932 | Hematochezia | 9 | |
C0241013 | Serum ferritin increased | 14 | |
C0241011 | Low serum estradiol levels | 22 | |
C4023918 | Short hard palate | 4 | |
C4280677 | Idiopathic gingival hyperplasia | 8 | |
C0158775 | Congenital anomaly of spine | 16 | |
C0158779 | Cervical rib | 4 | |
C4023911 | Aplasia/Hypoplasia of the breasts | 10 | |
C4023915 | Abnormally low-pitched voice | 6 | |
C0151811 | Subcutaneous nodule | 54 | |
C0346647 | Malignant neoplasm of pancreas | 9 | |
C0566694 | Small placenta | 4 | |
C0268374 | Adult junctional epidermolysis bullosa (disorder) | 5 | |
C1860127 | Impaired T cell function | 14 | |
C1860121 | Decreased testosterone in males | 28 | |
C0431391 | Hemimegalencephaly | 5 | |
C0431399 | Familial aplasia of the vermis | 19 | |
C0085605 | Liver Failure | 73 | |
C0085606 | Urgency of micturition | 14 | |
C0085602 | Polydipsia | 15 | |
C1856659 | Polysplenia | 7 | |
C0242387 | Mandibulofacial Dysostosis | 5 | |
C0242383 | Age related macular degeneration | 19 | |
C0013902 | Elliptocytosis, Hereditary | 9 | |
C0268594 | Glutaric aciduria | 5 | |
C0694550 | Recurrent pneumonia | 28 | |
C0241178 | Velvety skin | 17 | |
C1857657 | Decreased subcutaneous adipose tissue | 13 | |
C1857656 | Precociously senile appearance | 18 | |
C0266625 | Preauricular sinus | 27 | |
C0266623 | Congenital anomaly of neck | 19 | |
C1846439 | ODONTOID HYPOPLASIA | 16 | |
C1846438 | Hypoplastic facial bones | 4 | |
C1846435 | Short-trunked dwarfism | 13 | |
C1846434 | Hypoplastic scapulae | 14 | |
C0037199 | Sinusitis | 39 | |
C0239989 | Decreased IgM | 11 | |
C1854827 | Heparan sulfate excretion in urine | 5 | |
C1866751 | Spinocerebellar tract degeneration | 4 | |
C0221766 | Diastasis recti | 9 | |
C1844947 | Death in early childhood | 82 | |
C4082173 | Porencephaly | 17 | |
C4025849 | Abnormality of the fovea | 5 | |
C4025844 | Chorioretinal abnormality | 21 | |
C4025845 | Abnormality of the iris | 14 | |
C4025846 | Abnormality of vision | 40 | |
C0340643 | Dissection of aorta | 9 | |
C4280599 | Delayed maturation of wrist bone | 4 | |
C4280598 | Flattening of head | 20 | |
C4280595 | Cranial defect | 10 | |
C0558165 | Curly hair (finding) | 14 | |
C4280597 | Rhomboid shaped head | 20 | |
C1845169 | Renal phosphate wasting | 7 | |
C1832324 | Frequent opportunistic infections | 5 | |
C0235896 | Infiltrate of lung | 17 | |
C1832327 | Absent peripheral blood T cells | 4 | |
C1832323 | Failure to thrive secondary to recurrent infections | 4 | |
C0001824 | Agranulocytosis | 4 | |
C0005874 | Blushing | 4 | |
C1836729 | Autonomic dysregulation | 6 | |
C4280370 | Depressed cheekbone | 22 | |
C0002736 | Amyotrophic Lateral Sclerosis | 51 | |
C4280374 | Hyperplasia of malar bones | 4 | |
C4228933 | Limited jaw mobility | 5 | |
C3495676 | Anorectal Malformations | 8 | |
C0431371 | Absence of septum pellucidum | 13 | |
C1836047 | Long face | 71 | |
C0014067 | Occipital Encephalocele | 10 | |
C0014065 | Congenital cerebral hernia | 21 | |
C1862313 | Short thumb terminal phalanx | 5 | |
C1862314 | Basal cell nevi | 23 | |
C4273730 | Fatal infantile cytochrome C oxidase deficiency | 5 | |
C0853945 | Oral mucosal blistering | 10 | |
C0003466 | Anus, Imperforate | 46 | |
C0003467 | Anxiety | 106 | |
C0003460 | Anuria | 6 | |
C0003469 | Anxiety Disorders | 37 | |
C0700198 | Pulmonary aspiration | 8 | |
C1850309 | Mildly increased creatine kinase | 20 | |
C0035126 | Reperfusion Injury | 85 | |
C0025988 | Microglossia | 10 | |
C0268747 | Diffuse mesangial sclerosis (disorder) | 7 | |
C1394030 | Coronal hypospadias | 4 | |
C2315100 | Pediatric failure to thrive | 364 | |
C0268128 | Orotic aciduria | 5 | |
C0009917 | Contracture | 96 | |
C1403035 | Subcutaneous lipomas | 9 | |
C0017563 | Gingival Diseases | 18 | |
C0271694 | Familial partial lipodystrophy | 5 | |
C0017567 | Gingival Hypertrophy | 32 | |
C0017565 | Gingival Hemorrhage | 18 | |
C4014733 | Follicular hyperplasia | 4 | |
C1839798 | Long nose | 15 | |
C1839797 | Deep philtrum | 21 | |
C0270612 | Leukoencephalopathies | 29 | |
C1840535 | Carpal bone anomalies | 5 | |
C1856468 | Round, full face | 45 | |
C1859680 | Broad face | 7 | |
C1654921 | High urine albumin levels | 5 | |
C1859682 | Hypoplastic frontal sinuses | 6 | |
C1852301 | Plantar pits | 4 | |
C1855841 | Hypocalcaemic seizure | 4 | |
C1855514 | Severe failure to thrive | 4 | |
C0007120 | Bronchioloalveolar Adenocarcinoma | 14 | |
C0265529 | Plagiocephaly | 20 | |
C4019436 | Antiphospholipid antibody positivity | 4 | |
C0333068 | Flexion contracture | 93 | |
C0021670 | insulinoma | 5 | |
C0085298 | Sudden Cardiac Death | 29 | |
C0267963 | Exocrine pancreatic insufficiency | 14 | |
C0854110 | Insulin resistant diabetes | 13 | |
C0029124 | Optic Atrophy | 206 | |
C0266383 | Uterine Anomalies | 5 | |
C0266387 | Bicornuate uterus | 11 | |
C0154920 | Pigmentary iris degeneration | 20 | |
C1864711 | Muscle biopsy shows dystrophic changes | 39 | |
C1860253 | Accessory proximal metacarpal ossification centers | 7 | |
C0393441 | Chronic lymphocytic meningitis | 4 | |
C0041948 | Uremia | 17 | |
C0020678 | Hypotrichosis | 28 | |
C0341703 | Adult Fanconi syndrome | 12 | |
C0341706 | Glycinuria | 10 | |
C0020672 | Hypothermia, natural | 17 | |
C0020676 | Hypothyroidism | 49 | |
C4025676 | Abnormality of the knee | 6 | |
C0206686 | Adrenocortical carcinoma | 21 | |
C1860789 | Leukemia, Megakaryoblastic, of Down Syndrome | 8 | |
C1858970 | Chronic noninfectious lymphadenopathy | 6 | |
C0338078 | Non-Functioning Pituitary Gland Neoplasm | 6 | |
C0751690 | Malignant Peripheral Nerve Sheath Tumor | 4 | |
C1858977 | Increased levels of IgG | 4 | |
C0282527 | Infantile Refsum Disease (disorder) | 13 | |
C0282525 | Adrenoleukodystrophy, Neonatal | 13 | |
C0001125 | Acidosis, Lactic | 88 | |
C0001126 | Renal tubular acidosis | 10 | |
C0520927 | Decreased fertility | 33 | |
C0008340 | Choledochal Cyst | 5 | |
C4025187 | Increased megakaryocyte count | 6 | |
C0156404 | Irregular periods | 6 | |
C0003496 | Aortic Rupture | 5 | |
C1861324 | Short philtrum | 53 | |
C1861326 | Stapes ankylosis | 4 | |
C0003493 | Aortic Diseases | 6 | |
C4021606 | Mesoaxial hand polydactyly | 4 | |
C1842876 | Depressed nasal ridge | 51 | |
C0239174 | Late tooth eruption | 61 | |
C0398623 | Thrombophilia | 16 | |
C1850794 | Muscle atrophy, proximal | 12 | |
C0043459 | Zellweger Syndrome | 15 | |
C1833488 | Generalized seizures, recurrent | 9 | |
C4083050 | Agenesis of teeth | 21 | |
C0003873 | Rheumatoid Arthritis | 173 | |
C0003872 | Arthritis, Psoriatic | 14 | |
C1850171 | Short limb dwarfism recognizable at birth | 9 | |
C1855676 | Cerebellar vermis aplasia/ hypoplasia | 12 | |
C1855670 | Corneal abnormalities | 6 | |
C0018916 | Hemangioma | 24 | |
C0009763 | Conjunctivitis | 36 | |
C0017979 | Glycosuria | 29 | |
C2675520 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | 8 | |
C4072835 | Kinky hair texture | 13 | |
C4072834 | Rough hair texture | 31 | |
C4072837 | Fractured hair | 25 | |
C4072836 | Nappy hair texture | 13 | |
C4072831 | Delayed closure of the soft spot on the skull | 11 | |
C4072833 | Funny looking face | 47 | |
C4072832 | Distortion of face | 47 | |
C0452148 | Hypospadias, perineal | 5 | |
C0302314 | Xanthoma | 5 | |
C0023798 | Lipoma | 12 | |
C0085623 | Akinesia | 13 | |
C0023794 | Lipoidosis | 19 | |
C1856639 | Absent/hypoplastic paranasal sinuses | 5 | |
C0020443 | Hypercholesterolemia | 39 | |
C0020445 | Hypercholesterolemia, Familial | 17 | |
C0039584 | Testicular Diseases | 4 | |
C1839304 | Decreased number of CD4+ T cells | 4 | |
C1849937 | Short limb dwarfism, disproportionate | 22 | |
C1843392 | Death in childhood | 14 | |
C1846149 | Progressive mental retardation | 37 | |
C0024312 | Lymphopenia | 38 | |
C0221032 | Familial generalized lipodystrophy | 5 | |
C3203102 | Idiopathic pulmonary arterial hypertension | 39 | |
C0040485 | Torticollis | 18 | |
C1843479 | Neurogenic muscle atrophy, especially in the lower limbs | 138 | |
C0425772 | Premature development of the breasts | 5 | |
C1844825 | Hyperconvex fingernails | 7 | |
C1857484 | Brachyturricephaly | 4 | |
C0149521 | Pancreatitis, Chronic | 7 | |
C4025860 | Hearing abnormality | 12 | |
C1852534 | Hypoplastic male genitalia | 7 | |
C0026691 | Mucocutaneous Lymph Node Syndrome | 4 | |
C0038644 | Sudden infant death syndrome | 8 | |
C0178664 | Glomerulosclerosis (disorder) | 7 | |
C1858452 | Thickened calvaria | 17 | |
C4280577 | Uncoordinated limb movement | 4 | |
C4280575 | Progressive brain disease | 6 | |
C4280574 | Problems speaking | 37 | |
C4280579 | Grey eyebrow | 5 | |
C4280578 | Grey eyelashes | 5 | |
C1844548 | Hypoplastic finger | 17 | |
C0024141 | Lupus Erythematosus, Systemic | 65 | |
C0001807 | Aggressive behavior | 75 | |
C0239548 | Fasciculation, Tongue | 9 | |
C1859980 | Ambiguous genitalia due to virilization | 9 | |
C0239815 | Clenched hands | 6 | |
C0038238 | Steatorrhea | 17 | |
C0920350 | Autoimmune thyroiditis | 4 | |
C0220704 | Shprintzen syndrome | 9 | |
C0162568 | Erythropoietic Protoporphyria | 4 | |
C0005587 | Depression, Bipolar | 12 | |
C0162566 | Porphyria Cutanea Tarda | 4 | |
C0019322 | Umbilical hernia | 78 | |
C1567435 | Polycystic Kidney - body part | 18 | |
C0346373 | Malignant melanoma of iris | 4 | |
C1866134 | Wide anterior fontanel | 44 | |
C4020747 | Biopsy shows villous atrophy | 16 | |
C0008521 | Choroid Diseases | 7 | |
C0575802 | Small hand | 37 | |
C3806218 | Hyperpnea, episodic | 7 | |
C2235909 | Malformation of the nose | 4 | |
C1837770 | Sparse hair | 59 | |
C0231341 | Premature aging syndrome | 4 | |
C0264142 | Spade-like hand | 16 | |
C0494261 | Combined immunodeficiency | 5 | |
C0263490 | Brittle hair | 25 | |
C0151669 | gamma globulins increased | 9 | |
C0026848 | Myopathy | 85 | |
C0080218 | Tethered Cord Syndrome | 7 | |
C0026847 | Spinal Muscular Atrophy | 14 | |
C0026846 | Muscular Atrophy | 14 | |
C1856409 | Dilation of lateral ventricles | 4 | |
C0035412 | Rhabdomyosarcoma | 15 | |
C0035410 | Rhabdomyolysis | 15 | |
C1857206 | Laterally sparse eyebrows | 12 | |
C0520966 | Abnormal coordination | 14 | |
C3714796 | Isolated somatotropin deficiency | 31 | |
C1855538 | Small face | 10 | |
C0576860 | Narrowing of ear canal | 13 | |
C0023653 | Lichenification | 5 | |
C0009241 | Cognition Disorders | 30 | |
C0266011 | Accessory nipple | 11 | |
C0266013 | Congenital hypoplasia of breast | 25 | |
C0423082 | Hypometric saccades | 4 | |
C0006413 | Burkitt Lymphoma | 15 | |
C0578038 | Thin lips | 49 | |
C0030469 | Paranasal Sinus Diseases | 33 | |
C0021655 | Insulin Resistance | 72 | |
C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 48 | |
C0749379 | Thoracolumbar scoliosis | 4 | |
C4023136 | Reduced alpha/beta synthesis ratio | 4 | |
C2677869 | Hair shaft abnormalities | 30 | |
C3495498 | Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | 7 | |
C1876165 | Copper-Overload Cirrhosis | 11 | |
C4024878 | Generalized hyperpigmentation | 22 | |
C0041960 | Ureterocele | 4 | |
C0011175 | Dehydration | 40 | |
C0020302 | Hydrophthalmos | 19 | |
C0020305 | Hydrops Fetalis | 22 | |
C0221480 | Recurrent depression | 9 | |
C1868577 | Patella aplasia-hypoplasia | 12 | |
C0020651 | Hypotension, Orthostatic | 18 | |
C1849121 | Thin face | 54 | |
C1846352 | Increased urinary chloride | 5 | |
C1846351 | Increased urinary potassium | 5 | |
C0236733 | Amphetamine-Related Disorders | 72 | |
C0575071 | Gowers sign present | 24 | |
C0221263 | Cafe-au-Lait Spots | 37 | |
C0221260 | Dystrophia unguium | 53 | |
C0221261 | Koilonychia | 7 | |
C0008325 | Cholecystitis | 12 | |
C0005138 | Berylliosis | 10 | |
C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | 7 | |
C0018203 | Chronic granulomatous disease | 6 | |
C0920299 | Overriding toe | 10 | |
C1861901 | Subacute progressive viral hepatitis | 9 | |
C4025651 | Increased circulating cortisol level | 7 | |
C4025650 | Abnormality of lipid metabolism | 9 | |
C1328931 | Multiple lentigines | 10 | |
C4280529 | Excessive growth of skull bones | 7 | |
C0272375 | Antithrombin III Deficiency | 6 | |
C2673410 | Small midface | 105 | |
C2673946 | Foveal hypoplasia (finding) | 9 | |
C0029410 | Osteoarthritis of hip | 6 | |
C0348616 | Other restrictive cardiomyopathy | 4 | |
C0334092 | Hamartomatous polyp | 10 | |
C0859942 | Hanot's cirrhosis | 8 | |
C1850776 | Rapidly progressive disorder | 27 | |
C1851828 | Cigarette-paper scars | 4 | |
C0032285 | Pneumonia | 88 | |
C1836940 | Excess nuchal skin | 30 | |
C0002418 | Amblyopia | 19 | |
C0522216 | Abnormal auditory evoked potential | 7 | |
C0522214 | Abnormal visual evoked potential | 26 | |
C4083076 | Increased head circumference | 147 | |
C1306067 | Drug-induced paranoid state | 5 | |
C0431565 | Hamartoma of tongue | 4 | |
C0263537 | Onychogryposis | 13 | |
C0426934 | Absence of toe | 4 | |
C0264080 | Juvenile osteoporosis | 4 | |
C0012236 | DiGeorge Syndrome | 11 | |
C0949658 | Cardiomyopathy, Hypertrophic, Familial | 9 | |
C0018975 | Hemeralopia | 4 | |
C1848606 | Vestibular hypofunction | 7 | |
C0158734 | Polydactyly of toes | 12 | |
C0158731 | Congenital pectus carinatum | 53 | |
C0018979 | Hemianopsia | 7 | |
C0158733 | Hand polydactyly | 11 | |
C0265974 | Birthmark | 35 | |
C0265970 | Porokeratosis, Disseminated Superficial Actinic | 4 | |
C1527388 | Amniotic Bands | 4 | |
C1862102 | BRACHYDACTYLY, TYPE E1 | 4 | |
C1866934 | Decreased to absent deep tendon reflexes | 41 | |
C3150416 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | 7 | |
C3150415 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | 7 | |
C0543541 | HYPERGLYCINURIA (disorder) | 12 | |
C0740858 | Substance abuse problem | 5 | |
C0740852 | Upper airway obstruction | 6 | |
C0031256 | Petechiae | 13 | |
C0265287 | Acromicric Dysplasia | 5 | |
C0376628 | Chromosome Breakage | 32 | |
C3854388 | Hyperferritinaemia | 14 | |
C0220662 | ARTHROGRYPOSIS, DISTAL, TYPE 1 | 6 | |
C3279222 | Cerebellar hypoplasia and atrophy | 34 | |
C1839323 | Small chin | 9 | |
C1839326 | Abnormally-shaped vertebrae | 31 | |
C1565489 | Renal Insufficiency | 86 | |
C1167918 | CSF lactate increased | 33 | |
C0264886 | Conduction disorder of the heart | 70 | |
C0007134 | Renal Cell Carcinoma | 140 | |
C0007137 | Squamous cell carcinoma | 118 | |
C0007131 | Non-Small Cell Lung Carcinoma | 104 | |
C0242698 | Ventricular Dysfunction, Left | 19 | |
C0007138 | Carcinoma, Transitional Cell | 32 | |
C1969875 | Beta-cell dysfunction | 5 | |
C0020796 | Profound Mental Retardation | 31 | |
C1969879 | Limb contractures | 6 | |
C0740279 | Atrophy of cerebellum | 102 | |
C0392699 | Dysesthesia | 6 | |
C0266484 | Schizencephaly | 4 | |
C0266483 | Pachygyria | 41 | |
C0423414 | Retinal flecking | 7 | |
C0497202 | Abnormal ocular motility | 19 | |
C0025261 | Memory Disorders | 40 | |
C0010495 | Cutis Laxa | 24 | |
C0566899 | Small labia majora | 16 | |
C0024305 | Lymphoma, Non-Hodgkin | 22 | |
C0024301 | Lymphoma, Follicular | 17 | |
C0023518 | Leukocytosis | 13 | |
C0745730 | Multiple lipomata | 5 | |
C1854912 | Short tubular bones | 22 | |
C1854910 | Shallow acetabular fossae | 5 | |
C1854919 | Severe psychomotor retardation | 47 | |
C1845123 | Hypotonia, neonatal, generalized | 7 | |
C0008519 | Ectopic Tissue | 14 | |
C1843663 | Sphincter disturbances | 16 | |
C0014394 | Enuresis | 7 | |
C0014390 | Entropion | 8 | |
C1842138 | Progressive hearing loss | 6 | |
C3150659 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | 9 | |
C0152191 | Scotoma, Central | 11 | |
C0152018 | Esophageal carcinoma | 6 | |
C1876203 | Frontonasal dysplasia | 4 | |
C3714757 | Juvenile rheumatoid arthritis | 11 | |
C0037221 | Situs Inversus | 18 | |
C4280559 | Aplasia of frontal sinus | 8 | |
C4280558 | Flattening of facial bones | 4 | |
C4280555 | Increased circumference of foramen magnum | 6 | |
C4280554 | Increased diameter of foramen magnum | 6 | |
C4280557 | Hypotrophic facial bones | 4 | |
C3275417 | Ragged-red fibers | 11 | |
C0030421 | Paraganglioma | 6 | |
C1332852 | Cardiac rhabdomyoma | 5 | |
C0027540 | Necrosis | 52 | |
C0234132 | Pyramidal sign | 28 | |
C0687132 | heavy drinking | 5 | |
C4280333 | Recurrent sinus disease | 21 | |
C0683322 | Mental impairment | 93 | |
C3854603 | FNAITP | 6 | |
C0022073 | Iridocyclitis | 8 | |
C0426891 | Broad thumbs | 28 | |
C1850343 | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME | 4 | |
C4022947 | Decreased resting energy expenditure | 4 | |
C0002880 | Autoimmune hemolytic anemia | 15 | |
C0002886 | Anemia, Macrocytic | 17 | |
C0002888 | Anemia, Megaloblastic | 16 | |
C0018566 | Congenital Hand Deformities | 8 | |
C1836003 | Facial diplegia | 10 | |
C1836550 | Loss of developmental milestones | 88 | |
C0017612 | Glaucoma, Open-Angle | 4 | |
C1837758 | Bird-like facies | 4 | |
C0232940 | Secondary physiologic amenorrhea | 23 | |
C2932714 | Pontocerebellar Hypoplasia Type 2 | 5 | |
C0151468 | Thyroid Gland Follicular Adenoma | 9 | |
C1621920 | Intermediate Maple Syrup Urine Disease | 4 | |
C0410179 | Scleroatonic muscular dystrophy | 4 | |
C0264169 | Saddle nose | 6 | |
C1860844 | Thin, sparse hair | 59 | |
C0086543 | Cataract | 239 | |
C3203358 | Hypoventilation | 9 | |
C1855081 | MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 | 16 | |
C0026826 | Muscle Hypertonia | 88 | |
C0026821 | Muscle Cramp | 56 | |
C1834405 | Nail dysplasia | 52 | |
C1859392 | Absent axillary hair | 5 | |
C0031391 | Phencyclidine Abuse | 7 | |
C3278322 | Cerebellar dysplasia | 8 | |
C1859399 | Radial bowing | 13 | |
C0235063 | Respiratory Depression | 11 | |
C0265563 | Congenital dislocation of radial head | 14 | |
C0151640 | Decreased male fertility | 7 | |
C0266037 | Peg-shaped teeth | 8 | |
C0234629 | Abnormal color vision | 31 | |
C0266039 | Taurodontism | 14 | |
C0858867 | Reticulocytopenia | 10 | |
C0149958 | Complex partial seizures | 9 | |
C0302501 | Mandibular hyperplasia | 78 | |
C0015371 | Extrapyramidal Disorders | 29 | |
C1855685 | Extinguished electroretinogram | 15 | |
C0037036 | Sialorrhea | 28 | |
C4024890 | Excessive wrinkled skin | 16 | |
C4023976 | Aplasia/Hypoplasia of the middle phalanges of the toes | 5 | |
C0020635 | Hypopituitarism | 4 | |
C1857485 | Flat forehead | 5 | |
C1857486 | Low-set, posteriorly rotated ears | 111 | |
C3714514 | Infection | 6 | |
C0020639 | Hypoproteinemia | 8 | |
C1857482 | Slender fingers | 5 | |
C0024530 | Malaria | 16 | |
C0270972 | Cornelia De Lange Syndrome | 5 | |
C1858285 | Decreased number of large and small myelinated fibers | 20 | |
C2930821 | Keratitis sicca | 6 | |
C0575059 | Spastic tetraparesis | 12 | |
C3808377 | CATARACT 16, MULTIPLE TYPES | 15 | |
C0221204 | Lytic lesion | 32 | |
C0476089 | Endometrial Carcinoma | 6 | |
C4011788 | Behavioral variant of frontotemporal dementia | 8 | |
C0221209 | Pelvic kidney | 10 | |
C0019284 | Diaphragmatic Hernia | 40 | |
C0019288 | Hernia, Femoral | 7 | |
C0151878 | Prolonged QT interval | 17 | |
C0018777 | Conductive hearing loss | 123 | |
C0018772 | Hearing Loss, Partial | 184 | |
C0042454 | Velopharyngeal Insufficiency | 8 | |
C1863749 | Carpal bone hypoplasia | 6 | |
C0178417 | Anhedonia | 27 | |
C2673431 | Periventricular white matter abnormalities | 8 | |
C0239137 | Coxa valga | 22 | |
C1832119 | Fibular hypoplasia | 9 | |
C1832117 | Short upper arms | 16 | |
C0239138 | Hip joint varus deformity - observation | 24 | |
C1844666 | Immune dysregulation | 5 | |
C0338455 | Dementia of frontal lobe type | 6 | |
C1848765 | Sparse/absent eyebrows | 31 | |
C0917796 | Optic Atrophy, Hereditary, Leber | 4 | |
C0917798 | Cerebral Ischemia | 18 | |
C0917799 | Hypersomnia | 8 | |
C1833999 | Pigmentary retinal degeneration | 11 | |
C0878575 | Peripheral demyelination | 16 | |
C1833225 | Dystrophic toenail changes | 12 | |
C1184919 | Thoracic kyphosis | 6 | |
C1389280 | Basal ganglia calcification | 16 | |
C3278401 | Hair hypopigmentation | 12 | |
C0151872 | Prothrombin time increased | 7 | |
C0206620 | Lymphangioma, Cystic | 21 | |
C0151879 | Shortened QT interval | 5 | |
C0206624 | Hepatoblastoma | 7 | |
C0005744 | Blepharophimosis | 56 | |
C4020958 | Rough bone trabeculation | 11 | |
C4020957 | Abnormal trabecular bone morphology | 6 | |
C4020952 | Fingernail dysplasia | 6 | |
C0031099 | Periodontitis | 21 | |
C0031090 | Periodontal Diseases | 19 | |
C1865353 | Ethylmalonic aciduria | 6 | |
C0003742 | Arcus Senilis | 5 | |
C4053775 | Pituitary stalk interruption syndrome | 7 | |
C1850135 | Splayed metaphyses | 19 | |
C3151513 | MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) | 5 | |
C1835121 | Premature osteoarthritis | 6 | |
C0240783 | Elevated plasma renin | 9 | |
C0238300 | Stenosis of nasolacrimal duct | 4 | |
C4024665 | High-grade hypermetropia | 24 | |
C0265004 | Dilatation of aorta | 9 | |
C0345309 | Hypoplasia of vagina | 14 | |
C0748720 | Chronic sinus disease | 9 | |
C0702166 | Acne | 34 | |
C0476273 | Respiratory distress | 43 | |
C0544820 | Hypomyelination | 17 | |
C0751955 | Brain Infarction | 5 | |
C3551430 | Sparse or absent eyebrows | 31 | |
C3551431 | Sparse or absent eyelashes | 7 | |
C4280808 | Abnormally small eyeball | 97 | |
C0037932 | Curvature of spine | 283 | |
C3553368 | Limited hip extension | 4 | |
C1145628 | Autonomic nervous system disorders | 19 | |
C2749463 | Radial aplasia/hypoplasia | 29 | |
C0340375 | Subaortic stenosis | 9 | |
C1835229 | Onset of lymphedema around puberty | 21 | |
C0595929 | Serum cholesterol raised | 22 | |
C3809811 | PARKINSON DISEASE 19, JUVENILE-ONSET | 10 | |
C0023532 | Leukoplakia, Oral | 20 | |
C0007117 | Basal cell carcinoma | 46 | |
C0023530 | Leukopenia | 37 | |
C0004144 | Atelectasis | 8 | |
C0266200 | Microcolon | 4 | |
C1720508 | Retinal pigment epithelial abnormality | 110 | |
C1862761 | Increased hepatocellular carcinoma risk | 26 | |
C0237653 | Immunologic Hypersensitivity | 11 | |
C0279628 | Adenocarcinoma Of Esophagus | 14 | |
C1843687 | ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) | 20 | |
C0233763 | Hallucinations, Visual | 6 | |
C0004364 | Autoimmune Diseases | 62 | |
C1842155 | Flat proximal femoral epiphyses | 8 | |
C1842153 | Irregular vertebral endplates | 16 | |
C4025750 | Abnormality of the nasopharynx | 9 | |
C0038271 | Stereotyped Behavior | 38 | |
C0038273 | Stereotypic Movement Disorder | 40 | |
C0024591 | Malignant hyperpyrexia due to anesthesia | 10 | |
C0015398 | Eye Diseases, Hereditary | 6 | |
C0015397 | Disorder of eye | 22 | |
C0015393 | Eye Abnormalities | 34 | |
C4280538 | Curvature of little finger | 110 | |
C4280533 | Decreased calcification of skull | 10 | |
C4280532 | Decreased width of the skull | 28 | |
C4280531 | Enlargement of skull bones | 7 | |
C0022584 | Keratoderma, Palmoplantar, Diffuse | 4 | |
C0262587 | Parathyroid Adenoma | 7 | |
C0262584 | Carcinoma, Small Cell | 8 | |
C0027697 | Nephritis | 16 | |
C0013390 | Dysmenorrhea | 5 | |
C0015934 | Fetal Growth Retardation | 184 | |
C0993582 | Arthritis, Experimental | 39 | |
C1317785 | Tooth size discrepancy | 45 | |
C0262361 | abnormal growth | 19 | |
C0017636 | Glioblastoma | 76 | |
C0013575 | Ectodermal Dysplasia | 13 | |
C1837731 | Overfolded helix | 24 | |
C1837732 | Thickened helices | 15 | |
C0017638 | Glioma | 72 | |
C1837229 | Muscular Dystrophy, Congenital, Type 1D | 5 | |
C0040136 | Thyroid Neoplasm | 37 | |
C0028768 | Obsessive-Compulsive Disorder | 32 | |
C1840087 | Radial ray hypoplasia | 23 | |
C1842892 | Vascular abnormalities restricted to skin | 4 | |
C4021124 | Adrenocorticotropic hormone excess | 5 | |
C1855710 | Bone marrow hypocellularity | 20 | |
C0241157 | pustule | 10 | |
C1306214 | ACTH-Secreting Pituitary Adenoma | 4 | |
C1855578 | Muscle cramps with exertion | 7 | |
C0270846 | Epileptic drop attack | 11 | |
C1838578 | Encephalopathy, progressive | 6 | |
C0270853 | Myoclonic Epilepsy, Juvenile | 7 | |
C0270850 | Idiopathic generalized epilepsy | 6 | |
C1869118 | HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS | 4 | |
C0085762 | Alcohol abuse | 42 | |
C4021249 | Anterior pituitary agenesis | 6 | |
C0039070 | Syncope | 23 | |
C0039075 | Syndactyly | 42 | |
C0149793 | Amaurosis Fugax | 8 | |
C0750145 | vascular disease occlusive | 4 | |
C1857710 | Wizened face | 9 | |
C0917817 | Neurofibromatosis 3 | 4 | |
C0268306 | Unconjugated hyperbilirubinemia | 4 | |
C0037052 | Sick Sinus Syndrome | 4 | |
C1860236 | Irregular hyperpigmentation | 33 | |
C0338502 | Hypoplasia of the optic nerve | 17 | |
C0031511 | Pheochromocytoma | 18 | |
C1336708 | Testicular Germ Cell Tumor | 13 | |
C0221074 | Depression, Postpartum | 7 | |
C0020617 | Hypoglycemic coma | 10 | |
C0020615 | Hypoglycemia | 98 | |
C0266054 | Premature tooth eruption | 5 | |
C1968851 | Pigmented micronodular adrenocortical disease | 4 | |
C0266050 | Failure of exfoliation of primary tooth | 8 | |
C0266052 | Precocious exfoliation of primary tooth | 11 | |
C0015230 | Exanthema | 41 | |
C1859860 | Ketoacidosis, episodic | 4 | |
C4025695 | Right aortic arch with mirror image branching | 5 | |
C0024517 | Single major depressive episode | 9 | |
C0002982 | Angioid Streaks | 7 | |
C0002986 | Fabry Disease | 4 | |
C0002985 | Angiokeratoma | 4 | |
C0004779 | Basal Cell Nevus Syndrome | 4 | |
C0036095 | Salivary Gland Neoplasms | 45 | |
C0004775 | Bartter Disease | 4 | |
C4280661 | Abnormality of cranium shape | 5 | |
C0008677 | Bronchitis, Chronic | 12 | |
C0279980 | Extraosseous Ewings sarcoma-primitive neuroepithelial tumor | 4 | |
C0156312 | Atrophy of testis | 9 | |
C0426970 | Spastic Quadriplegia | 36 | |
C4021849 | Conjunctival hamartoma | 7 | |
C0432235 | Cranioectodermal Dysplasia | 5 | |
C1836635 | Loeys-Dietz Aortic Aneurysm Syndrome | 13 | |
C0001723 | Affective Disorders, Psychotic | 6 | |
C1862142 | Short index finger | 6 | |
C0032578 | Polyploidy | 4 | |
C0085576 | Iron-Refractory Iron Deficiency Anemia | 16 | |
C0085577 | Normocytic anemia | 6 | |
C0085570 | Hypokalemic alkalosis | 4 | |
C0013182 | Drug Allergy | 35 | |
C0034933 | Reflex, Abnormal | 5 | |
C0345893 | Juvenile polyposis syndrome | 4 | |
C0240414 | Hypoplasia of muscle | 5 | |
C0034935 | Babinski Reflex | 100 | |
C0456909 | Blind Vision | 110 | |
C0035222 | Respiratory Distress Syndrome, Adult | 40 | |
C0031212 | Personality Disorders | 7 | |
C0035229 | Respiratory Insufficiency | 125 | |
C0035228 | Respiratory Hypersensitivity | 18 | |
C0009691 | Congenital cataract | 43 | |
C0020429 | Hyperalgesia | 80 | |
C0020428 | Hyperaldosteronism | 19 | |
C1839364 | Progressive visual loss | 36 | |
C1849955 | Limited elbow movement | 6 | |
C0011854 | Diabetes Mellitus, Insulin-Dependent | 47 | |
C0011853 | Diabetes Mellitus, Experimental | 105 | |
C0011859 | Lipoatrophic Diabetes Mellitus | 5 | |
C4023698 | Everted upper lip vermilion | 4 | |
C0345326 | Congenital phimosis | 4 | |
C0476254 | Dyslexia | 10 | |
C0040427 | Tooth Abnormalities | 69 | |
C0497247 | Increase in blood pressure | 111 | |
C0085684 | Foot-drop | 27 | |
C0085680 | Hypochloremia (disorder) | 6 | |
C0085681 | Hyperphosphatemia (disorder) | 17 | |
C0085682 | Hypophosphatemia | 18 | |
C0079583 | Ichthyosiform Erythroderma, Congenital | 6 | |
C1857527 | Flat epiphyses | 7 | |
C0034065 | Pulmonary Embolism | 21 | |
C0034067 | Pulmonary Emphysema | 23 | |
C4018860 | Pituitary growth hormone cell adenoma | 8 | |
C0034063 | Pulmonary Edema | 7 | |
C0595901 | Serum chloride level decreased (finding) | 6 | |
C0034069 | Pulmonary Fibrosis | 80 | |
C0006845 | Candidiasis, Chronic Mucocutaneous | 11 | |
C1834674 | Bethlem myopathy | 4 | |
C0021775 | Intermittent Claudication | 4 | |
C1257915 | Intestinal Polyposis | 6 | |
C1843331 | Diffuse, symmetrical osteosclerosis | 5 | |
C0233565 | Bradykinesia | 34 | |
C0023882 | Little's Disease | 14 | |
C0007114 | Malignant neoplasm of skin | 15 | |
C4024641 | Enlarged polycystic ovaries | 10 | |
C4024640 | Aplasia/hypoplasia of the uterus | 4 | |
C4025597 | Subsarcolemmal accumulations of abnormally shaped mitochondria | 4 | |
C4025594 | Positive regitine blocking test | 5 | |
C0010674 | Cystic Fibrosis | 9 | |
C1321884 | Atresia of vagina | 10 | |
C0403447 | Chronic Kidney Insufficiency | 6 | |
C1860394 | Multiple pancreatic cysts | 4 | |
C1848030 | Hypotonia-Cystinuria Syndrome | 4 | |
C4023438 | Recurrent mycobacterial infections | 7 | |
C2748910 | Rett Syndrome, Atypical | 4 | |
C0813217 | Expressionless face | 6 | |
C1837081 | Tibial bowing | 19 | |
C0037268 | Skin Abnormalities | 37 | |
C0575158 | Kyphoscoliosis deformity of spine | 60 | |
C4280517 | Enlargement of craniofacial bones | 11 | |
C4280516 | Thick craniofacial bones | 11 | |
C4280519 | Increased ossification of calvarial bones | 5 | |
C4280518 | Hypertrophy of craniofacial bones | 11 | |
C3275452 | Protruding upper lip | 4 | |
C0005697 | Neurogenic Urinary Bladder | 6 | |
C4277682 | Chemical and Drug Induced Liver Injury | 184 | |
C0005695 | Bladder Neoplasm | 112 | |
C4082243 | Maxillary retrognathia | 66 | |
C1849314 | Absence of radius and ulna | 15 | |
C1849311 | Short first metacarpals | 11 | |
C1836451 | Muscle atrophy, lower limb, distal | 8 | |
C0014356 | Enterocolitis | 6 | |
C1842170 | Centrally nucleated skeletal muscle fibers | 10 | |
C0013377 | Dysgerminoma | 7 | |
C0521573 | Coloboma of eyelid | 15 | |
C0151818 | Opisthotonus | 14 | |
C1867863 | Poor gross motor coordination | 7 | |
C1867864 | Poor fine motor coordination | 4 | |
C0236048 | Polyposis, Gastric | 4 | |
C0018524 | Hallucinations | 27 | |
C0311277 | Obesity, Abdominal | 25 | |
C0020546 | Hypertensive crisis | 4 | |
C4020858 | Choreatic disease | 28 | |
C4020859 | Pyramidal tract disease | 11 | |
C2675111 | Abnormal eyelashes | 13 | |
C0206180 | Ki-1+ Anaplastic Large Cell Lymphoma | 4 | |
C4020851 | Cortical white matter abnormalities seen on MRI | 18 | |
C0043515 | Zollinger-Ellison syndrome | 5 | |
C4020854 | Neuro-degenerative disease | 43 | |
C4020855 | Respiratory function loss | 114 | |
C4020856 | Terminal tremor | 20 | |
C4020857 | Neuronal lipopigments | 7 | |
C0032963 | Pregnancy Complications, Cardiovascular | 4 | |
C0857973 | Increased serum parathyroid hormone | 14 | |
C0241210 | Speech Delay | 113 | |
C0026636 | Mouth Diseases | 12 | |
C4021107 | Non-obstructive azoospermia | 22 | |
C0017154 | Gastritis, Atrophic | 4 | |
C4021100 | Increased fibular diameter | 4 | |
C1850072 | Tented upper lip | 19 | |
C1855773 | Psychomotor retardation, profound | 17 | |
C0080276 | Disorder of the genitourinary system | 6 | |
C0080274 | Urinary Retention | 6 | |
C1859606 | Depletion of large myelinated fibers | 7 | |
C0279626 | Squamous cell carcinoma of esophagus | 75 | |
C0009447 | Common Variable Immunodeficiency | 11 | |
C0017658 | Glomerulonephritis | 32 | |
C1837249 | Malformations of Cortical Development, Group II | 31 | |
C0038454 | Cerebrovascular accident | 57 | |
C0038450 | Stridor | 5 | |
C1411876 | Developmental arithmetic disorder | 8 | |
C0730292 | Macular dystrophy | 8 | |
C0730290 | Cone dystrophy | 20 | |
C0241688 | Loss of peripheral vision | 5 | |
C0235025 | Peripheral motor neuropathy | 4 | |
C4012968 | Mild global developmental delay | 14 | |
C0151686 | Growth retardation | 114 | |
C4025202 | Recurrent protozoan infections | 4 | |
C4025203 | Severe T lymphocytopenia | 4 | |
C0040015 | Thrombasthenia | 4 | |
C0431904 | Ulnar polydactyly of fingers | 47 | |
C4022754 | Episodic hypokalemia | 4 | |
C0085215 | Ovarian Failure, Premature | 9 | |
C0158266 | Intervertebral Disc Degeneration | 5 | |
C0003028 | Anhidrosis | 14 | |
C0027080 | Myoglobinuria | 11 | |
C4228227 | Small thymus | 13 | |
C1859424 | Increased chromosomal breakage | 27 | |
C0007873 | Uterine Cervical Neoplasm | 25 | |
C0238395 | Male Pseudohermaphroditism | 19 | |
C1856023 | Vaginal malformation | 7 | |
C0265695 | Congenital fusion of ribs | 4 | |
C0027888 | Hereditary Motor and Sensory Neuropathies | 5 | |
C0027889 | Hereditary Sensory and Autonomic Neuropathies | 4 | |
C0030486 | Paraplegia | 5 | |
C0234378 | Static Tremor | 12 | |
C0234379 | Resting Tremor | 9 | |
C0234376 | Action Tremor | 22 | |
C1839604 | Renal failure in adulthood | 75 | |
C2676973 | Bulbous internal auditory canal | 5 | |
C1843168 | Irregular myelin foldings | 4 | |
C1849148 | Decreased sensory nerve conduction velocities (NCV) | 8 | |
C2677378 | Duodenal villous atrophy | 16 | |
C2930865 | Ramer Ladda syndrome | 8 | |
C4025901 | Abnormality of body height | 13 | |
C4025900 | Abnormality of female internal genitalia | 13 | |
C0273115 | Lung Injury | 20 | |
C0473527 | Hypoalphalipoproteinemias | 10 | |
C0003165 | Anthracosis | 4 | |
C1861349 | Absent distal interphalangeal creases | 4 | |
C0751778 | Myoclonic Epilepsies, Progressive | 38 | |
C4225426 | THYROID CANCER, NONMEDULLARY, 2 | 4 | |
C1837142 | Poor suck | 18 | |
C0010246 | Coxsackievirus Infections | 4 | |
C1446712 | Overlapping fingers | 10 | |
C0008479 | Chondrosarcoma | 5 | |
C0002962 | Angina Pectoris | 14 | |
C4280258 | Asymmetry of head | 5 | |
C0241910 | Hepatitis, Autoimmune | 17 | |
C4280251 | Absence of a tooth | 6 | |
C3163801 | Abnormality of aortic arch | 9 | |
C2676026 | Optic nerve dysplasia | 6 | |
C4280530 | Hypertrophy of cranial bones | 7 | |
C1836923 | Gastrointestinal dysmotility | 5 | |
C1836926 | Fundus with peripheral 'bony spicules' | 12 | |
C0282160 | Aplasia Cutis Congenita | 14 | |
C0158465 | Acquired cubitus valgus | 18 | |
C1837522 | Decreased pain sensation | 18 | |
C0349639 | Juvenile Myelomonocytic Leukemia | 20 | |
C0019025 | Hemoglobin F Disease | 4 | |
C1860614 | ULNAR HYPOPLASIA | 24 | |
C0018995 | Hemochromatosis | 12 | |
C0432211 | Spondyloepimetaphyseal disorder | 9 | |
C0018991 | Hemiplegia | 13 | |
C0438717 | Transaminases increased | 80 | |
C2931788 | Atypical Hemolytic Uremic Syndrome | 9 | |
C0033790 | Pseudobulbar Palsy | 4 | |
C0234979 | Dysdiadochokinesis | 25 | |
C0206667 | Adrenal Cortical Adenoma | 5 | |
C0206661 | Gonadoblastoma | 6 | |
C0206663 | Neuroectodermal Tumor, Primitive | 8 | |
C1867446 | Bulging forehead | 66 | |
C0206669 | Hepatocellular Adenoma | 7 | |
C1968564 | Defective DNA repair after ultraviolet radiation damage | 7 | |
C1968565 | Numerous pigmented freckles | 4 | |
C1857662 | COACH syndrome | 4 | |
C0032226 | Pleural Diseases | 10 | |
C0032227 | Pleural effusion disorder | 6 | |
C3805715 | Shuffling, short-stepped gait | 5 | |
C0852283 | Respiratory Distress Syndrome | 15 | |
C0039263 | Takayasu Arteritis | 4 | |
C4021777 | Abnormality of the larynx | 6 | |
C0003706 | Arachnodactyly | 49 | |
C1837385 | Poor growth | 114 | |
C3279575 | Reticulate skin pigmentation | 7 | |
C1837388 | Abnormal respiratory patterns | 20 | |
C2981150 | Uranostaphyloschisis | 167 | |
C0220633 | Uveal melanoma | 8 | |
C0012833 | Dizziness | 28 | |
C1867448 | Multiple pterygia | 4 | |
C0035243 | Respiratory Tract Infections | 7 | |
C0035242 | Respiratory Tract Diseases | 6 | |
C3549779 | menstrual abnormality | 4 | |
C0151740 | Intracranial Hypertension | 24 | |
C0151747 | Renal tubular disorder | 12 | |
C0268534 | Prolinuria | 4 | |
C0265268 | Adams Oliver syndrome | 6 | |
C0151744 | Myocardial Ischemia | 170 | |
C1839839 | MAJOR AFFECTIVE DISORDER 2 | 22 | |
C0042928 | Vocal Cord Paralysis | 7 | |
C0751122 | Infantile Severe Myoclonic Epilepsy | 8 | |
C0011989 | Camurati-Engelmann Syndrome | 5 | |
C0917990 | Acro-Osteolysis | 12 | |
C0410935 | Wide cranial sutures | 4 | |
C0332563 | Papule | 44 | |
C0452138 | Sensorineural hearing loss, bilateral | 11 | |
C0392188 | Abnormal rapid eye movement sleep | 8 | |
C1834124 | Shield chest | 8 | |
C2936694 | Swyer Syndrome | 8 | |
C0011875 | Diabetic Angiopathies | 16 | |
C0235833 | Congenital diaphragmatic hernia | 37 | |
C4025572 | Episodic flaccid weakness | 4 | |
C4025573 | Increased muscle fatiguability | 4 | |
C0578626 | blue iris (physical finding) | 17 | |
C4025579 | Large beaked nose | 5 | |
C1853193 | Recurrent skin infections | 20 | |
C0155119 | Recurrent erosion of cornea | 12 | |
C0242584 | Autoimmune thrombocytopenia | 22 | |
C0394006 | Dysequilibrium syndrome | 4 | |
C1841684 | Carpal delayed ossification | 4 | |
C2936786 | Aqueductal Stenosis | 5 | |
C0751003 | Brain Aneurysm | 8 | |
C0338715 | Drug-induced depressive state | 14 | |
C0011303 | Demyelinating Diseases | 7 | |
C1849089 | Broad forehead | 60 | |
C0004106 | Astigmatism | 21 | |
C0242979 | Muscle Fatigue | 4 | |
C0549306 | Mesomelia | 8 | |
C1968790 | Axonal degeneration/regeneration | 7 | |
C0242973 | Ventricular Dysfunction | 7 | |
C4280395 | Rounded columella | 4 | |
C4280392 | Hypotrophic nose | 5 | |
C1827524 | Wide spaced nipples | 46 | |
C0014084 | Enchondromatosis | 5 | |
C0018055 | Gonadal Dysgenesis, Mixed | 19 | |
C0018051 | Gonadal Dysgenesis | 20 | |
C0877165 | Short phalanx of finger | 32 | |
C0543888 | Epileptic encephalopathy | 26 | |
C0239882 | Head tremor | 5 | |
C4020878 | Diffusely thickened skin | 20 | |
C4020879 | Stippled pigmentation | 4 | |
C4020874 | No development of motor milestones | 148 | |
C4020872 | Cranial nerve abnormality | 7 | |
C4020873 | Infratentorial atrophy | 102 | |
C1861403 | Variable expressivity | 150 | |
C0426789 | Short thorax | 21 | |
C0600104 | Obsessive compulsive behavior | 25 | |
C0026650 | Movement Disorders | 52 | |
C1527249 | Colorectal Cancer | 7 | |
C1855751 | Bulbous nasal tip | 48 | |
C0002395 | Alzheimer's Disease | 81 | |
C1833362 | Sleep-wake cycle disturbance | 5 | |
C0009421 | Comatose | 56 | |
C1833058 | Small intestine biopsy shows villous atrophy | 16 | |
C1837260 | Prominent forehead | 66 | |
C0017671 | Glomus Jugulare Tumor | 4 | |
C0268237 | Cytochrome-c Oxidase Deficiency | 10 | |
C1862265 | Elevated gonadotropins | 15 | |
C0269011 | Increased size of penis | 7 | |
C0878787 | Growth failure | 114 | |
C0029453 | Osteopenia | 99 | |
C0029456 | Osteoporosis | 160 | |
C0029454 | Osteopetrosis | 12 | |
C0029458 | Osteoporosis, Postmenopausal | 6 | |
C1269683 | Major Depressive Disorder | 257 | |
C3887496 | Oligodactyly | 6 | |
C0345427 | Woolly hair, congenital | 5 | |
C3887499 | Renal cyst | 30 | |
C0542223 | Loss of speech | 16 | |
C0155320 | Blindness, Cortical | 17 | |
C1856599 | Beaked vertebral bodies | 9 | |
C0017639 | Gliosis | 56 | |
C0025958 | Microcephaly | 25 | |
C0027066 | Myoclonus | 74 | |
C0149931 | Migraine Disorders | 69 | |
C4024936 | Temporal cortical atrophy | 6 | |
C1858539 | Shawl scrotum | 9 | |
C1843765 | MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6 | 4 | |
C0221409 | Anemia, hereditary spherocytic hemolytic | 5 | |
C1839666 | Calf muscle pseudohypertrophy | 5 | |
C0277960 | Dry hair | 7 | |
C1843108 | Short hands | 51 | |
C0039446 | Telangiectasis | 17 | |
C0041834 | Erythema | 58 | |
C1852767 | Hereditary macular coloboma | 5 | |
C0024003 | Lordosis | 54 | |
C3161330 | Profound intellectual disabilities | 31 | |
C1858995 | Decreased serum progesterone | 5 | |
C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | 6 | |
C0002949 | Aneurysm, Dissecting | 8 | |
C0334013 | Phrynoderma | 11 | |
C0007971 | Cheilitis | 5 | |
C0222716 | Structure of wormian bone | 24 | |
C2673670 | Curly eyelashes | 6 | |
C1857126 | Parietal bossing | 5 | |
C3278975 | Attenuation of retinal blood vessels | 16 | |
C0393525 | Progressive cerebellar ataxia | 12 | |
C0858618 | Dyschromatopsia | 8 | |
C4280657 | Malformation of head shape | 5 | |
C0343755 | HIV Wasting Syndrome | 4 | |
C1456865 | Ureteral Calculi | 4 | |
C1844573 | Fleshy earlobes | 8 | |
C0238207 | Ectopic kidney | 11 | |
C1844577 | Hyperextensible digits | 7 | |
C4280659 | Malformation of cranial vault shape | 5 | |
C0234958 | muscle degeneration | 138 | |
C0001768 | Agammaglobulinemia | 15 | |
C0032209 | Platybasia | 13 | |
C1847906 | Onion bulb formation | 19 | |
C0012819 | Diverticular disease of colon | 15 | |
C0012811 | Colon diverticulum anatomic structure | 15 | |
C0040053 | Thrombosis | 44 | |
C1850191 | Posterior polar cataract | 4 | |
C0078917 | Albinism, Ocular | 8 | |
C4021808 | Abnormality of earlobe | 5 | |
C2937228 | Tunnel visual field constriction | 5 | |
C4280341 | Pointed front tooth | 6 | |
C4021806 | Prelingual sensorineural hearing impairment | 5 | |
C4021800 | Enamel abnormalities | 31 | |
C4021801 | Lacrimation abnormality | 4 | |
C1837108 | Decreased muscle mass | 29 | |
C2931107 | Myasthenic syndrome, congenital, postsynaptic slow-channel | 4 | |
C0151766 | Liver function tests abnormal finding | 80 | |
C1863924 | Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | 4 | |
C1859236 | Prolonged neonatal jaundice | 17 | |
C1861218 | Hypoplastic ilia | 12 | |
C0042900 | Vitiligo | 19 | |
C1839858 | Periventricular cysts | 7 | |
C1258215 | Ileus | 7 | |
C0031039 | Pericardial effusion | 7 | |
C4021736 | Decreased methylcobalamin | 4 | |
C4021735 | Abnormality of the hip bone | 16 | |
C4021730 | Junctional split | 6 | |
C0587248 | Costello syndrome (disorder) | 6 | |
C3552853 | Color vision defect, severe | 31 | |
C0149630 | Bicuspid aortic valve | 16 | |
C1288283 | Atrophoderma maculatum | 4 | |
C4022386 | Overfriendliness | 8 | |
C0587246 | Muscle weakness of limb | 21 | |
C0410916 | Neonatal Death | 14 | |
C0520474 | Aseptic Necrosis of Bone | 8 | |
C1859014 | Primary gonadal insufficiency | 9 | |
C0023772 | Lipid Metabolism, Inborn Errors | 6 | |
C0242343 | Panhypopituitarism | 5 | |
C1856694 | Areflexia of lower limbs | 10 | |
C0265202 | Seckel syndrome | 9 | |
C1857074 | Absent sternal ossification | 4 | |
C1397139 | Calcification of falx cerebri | 6 | |
C0030567 | Parkinson Disease | 62 | |
C0010417 | Cryptorchidism | 261 | |
C1839271 | Birth length greater than 97th percentile | 5 | |
C1857079 | Atretic auditory canal | 23 | |
C0237326 | Dyschezia | 135 | |
C4024970 | Thick cerebral cortex | 5 | |
C0427068 | Monoparesis - leg | 27 | |
C0427064 | Pelvic girdle weakness | 7 | |
C0427065 | Distal muscle weakness | 62 | |
C4024979 | Ovarian papillary adenocarcinoma | 5 | |
C4024609 | Decreased activity of mitochondrial respiratory chain | 5 | |
C0427063 | Shoulder girdle weakness | 10 | |
C1720037 | Supranuclear gaze palsy | 6 | |
C1853171 | Multiple fractures present at birth | 5 | |
C0431718 | Multiple renal cysts | 5 | |
C1844592 | Soft skin | 17 | |
C0158986 | Neonatal hypoglycemia | 17 | |
C0338480 | Common Migraine | 7 | |
C4023383 | Narrow internal auditory canal | 8 | |
C4023470 | EEG with continuous slow activity | 7 | |
C4023479 | EEG with focal sharp slow waves | 5 | |
C0235480 | Paroxysmal atrial fibrillation | 9 | |
C0553580 | Ewings sarcoma | 8 | |
C0019693 | HIV Infections | 99 | |
C3806644 | Lower limb muscle hypotrophy | 8 | |
C0025037 | Meckel Diverticulum | 5 | |
C2937421 | Prostatic Hyperplasia | 4 | |
C0748691 | Shoulder weakness | 10 | |
C0454455 | Mirror movements disorder | 8 | |
C2048011 | Raised level of immunoglobulins NOS | 9 | |
C0221365 | Double ureter | 6 | |
C1844749 | Rib fusion | 16 | |
C0262527 | intermittent abdominal pain | 9 | |
C0152441 | Madelung Deformity | 5 | |
C0152116 | Spasmodic torticollis | 17 | |
C0152115 | Lingual-Facial-Buccal Dyskinesia | 5 | |
C2063326 | Cardiomyopathy, right ventricular | 7 | |
C4025735 | Nonspherocytic hemolytic anemia | 7 | |
C0426816 | Absence of rib | 7 | |
C0426817 | Short ribs | 30 | |
C0426811 | Pseudoarthrosis of clavicle | 5 | |
C0040261 | Onychomycosis | 8 | |
C0040264 | Tinnitus | 18 | |
C0426818 | Thin rib | 21 | |
C0588008 | Severe depression | 6 | |
C0155285 | Orbital cyst | 4 | |
C1866190 | Atresia of the external auditory canal | 23 | |
C1866195 | Downturned corners of mouth | 49 | |
C0022568 | Keratitis | 24 | |
C4020813 | Increased gastric cancer | 21 | |
C0032927 | Precancerous Conditions | 72 | |
C1840069 | Sandal gap | 24 | |
C0685840 | Congenital hypoplasia of ovary | 30 | |
C0013338 | Pituitary dwarfism | 4 | |
C0013336 | Dwarfism | 36 | |
C1698196 | Muscle weakness of upper limb | 6 | |
C0796004 | Kabuki make-up syndrome | 4 | |
C1855008 | Mitochondrial Complex II Deficiency | 4 | |
C1855009 | Psychomotor regression in infants | 88 | |
C1833340 | Synostotic Posterior Plagiocephaly | 8 | |
C0009404 | Colorectal Neoplasms | 218 | |
C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 8 | |
C0271183 | Severe myopia | 21 | |
C0206146 | Myocardial Stunning | 4 | |
C0345996 | Milium Cyst | 16 | |
C2674574 | Aortic aneurysm, familial thoracic 3 | 13 | |
C1848474 | Limited jaw opening | 5 | |
C0409495 | Protrusio acetabuli | 7 | |
C1306857 | Hyperglobulinemia | 9 | |
C0221043 | Liddle Syndrome | 4 | |
C1858558 | Rheumatoid Arthritis, Systemic Juvenile | 4 | |
C0023904 | Liver Neoplasms, Experimental | 48 | |
C0023903 | Liver neoplasms | 119 | |
C0007528 | Cecal Neoplasms | 4 | |
C0221170 | Muscular stiffness | 12 | |
C0740392 | Infarction, Middle Cerebral Artery | 33 | |
C0740394 | Hyperuricemia | 17 | |
C0270834 | Complex partial seizure with impairment of consciousness | 9 | |
C0030193 | Pain | 79 | |
C3550234 | PEROXISOME BIOGENESIS DISORDER 2B | 5 | |
C0730345 | Microalbuminuria | 5 | |
C1867103 | Limited elbow extension | 19 | |
C0036349 | Paranoid Schizophrenia | 16 | |
C1854838 | Progressive neurologic deterioration | 19 | |
C0036344 | Schizophrenia, Catatonic | 4 | |
C0333641 | Atrophic | 10 | |
C1301509 | Severe visual impairment | 16 | |
C0001969 | Alcoholic Intoxication | 33 | |
C0162429 | Malnutrition | 11 | |
C0431362 | Lobar Holoprosencephaly | 20 | |
C0431363 | Alobar Holoprosencephaly | 14 | |
C0021053 | Immune System Diseases | 4 | |
C0021051 | Immunologic Deficiency Syndromes | 113 | |
C0233315 | Premature birth of newborn | 67 | |
C1305420 | Prominent ear | 56 | |
C0004245 | Atrioventricular Block | 11 | |
C0038379 | Strabismus | 270 | |
C0019209 | Hepatomegaly | 256 | |
C0019202 | Hepatolenticular Degeneration | 24 | |
C1275081 | Cardio-facio-cutaneous syndrome | 6 | |
C0349705 | Abnormal hemoglobin finding | 9 | |
C1862479 | Absent interphalangeal creases | 5 | |
C0240295 | Mandibular hypoplasia | 276 | |
C1862475 | Abnormality of retinal pigmentation | 110 | |
C1862474 | Decreased facial expression | 6 | |
C0240063 | Coloboma of iris | 38 | |
C1846950 | Short middle phalanges | 12 | |
C0019061 | Hemolytic-Uremic Syndrome | 9 | |
C1510497 | Lens Opacities | 231 | |
C0022353 | Neonatal Jaundice | 18 | |
C0038990 | Sweating | 81 | |
C0036508 | Seborrheic dermatitis | 13 | |
C1858036 | Periorbital fullness | 9 | |
C1844555 | Absent toenails (anonychia) | 7 | |
C1858033 | Asymmetric chest | 4 | |
C0034012 | Delayed Puberty | 94 | |
C1833118 | Cataract, Pulverulent | 11 | |
C0338503 | Septo-Optic Dysplasia | 11 | |
C0151563 | Coagulation time prolonged | 4 | |
C2609414 | Acute kidney injury | 71 | |
C2745997 | OROFACIODIGITAL SYNDROME VI | 8 | |
C0263485 | Clastothrix | 4 | |
C0240479 | Neck muscle weakness | 17 | |
C0040034 | Thrombocytopenia | 128 | |
C0040038 | Thromboembolism | 15 | |
C4021822 | Abnormality of female external genitalia | 8 | |
C4021823 | Ambiguous genitalia, male | 9 | |
C4021821 | Abnormality of the urinary system | 21 | |
C1836696 | Lower limb hyperreflexia | 10 | |
C0042963 | Vomiting | 113 | |
C0020619 | Hypogonadism | 124 | |
C0476397 | Electroretinogram abnormal | 95 | |
C0392557 | Nuclear cataract | 19 | |
C4021750 | Abnormality of the femur | 6 | |
C4021753 | Abnormality of the immune system | 18 | |
C0035067 | Renal Artery Stenosis | 9 | |
C4021758 | Delayed CNS myelination | 6 | |
C4021759 | Generalized myoclonic seizures | 28 | |
C1864954 | Hyperinsulinemia, fasting | 7 | |
C0034888 | Rectal Prolapse | 8 | |
C0034885 | Rectal Neoplasms | 17 | |
C0034880 | Hyperacusis | 11 | |
C0401149 | Chronic constipation | 6 | |
C1142166 | Brugada Syndrome (disorder) | 15 | |
C0241703 | High pitched voice | 23 | |
C0241700 | Voice Fatigue | 7 | |
C1848805 | Thyroid Dyshormonogenesis 1 | 6 | |
C0265221 | Walker-Warburg congenital muscular dystrophy | 13 | |
C0948187 | Tracheomalacia | 11 | |
C0009363 | Congenital ocular coloboma (disorder) | 40 | |
C1458155 | Mammary Neoplasms | 424 | |
C1839254 | Small capital femoral epiphyses | 10 | |
C1445953 | Poor eye contact | 12 | |
C1834696 | Hyporeflexia of lower limbs | 10 | |
C0237304 | Noisy respiration | 5 | |
C0007193 | Cardiomyopathy, Dilated | 82 | |
C0007194 | Hypertrophic Cardiomyopathy | 92 | |
C4023676 | Increased nuchal translucency | 6 | |
C0149871 | Deep Vein Thrombosis | 8 | |
C0149651 | Clubbing | 9 | |
C0085110 | Severe Combined Immunodeficiency | 16 | |
C1860335 | Axillary freckling | 5 | |
C0598275 | Diffuse cerebral atrophy | 8 | |
C4023457 | Short face | 4 | |
C3150281 | Fetal overgrowth | 16 | |
C4023452 | Elevated C-reactive protein level | 15 | |
C0020595 | Hypoaldosteronism | 12 | |
C0020597 | Hypobetalipoproteinemias | 5 | |
C0020224 | Polyhydramnios | 85 | |
C0020599 | Hypocalciuria | 4 | |
C0020598 | Hypocalcemia | 31 | |
C1302999 | Ankyloblepharon filiforme adnatum | 4 | |
C0037286 | Skin Neoplasms | 65 | |
C0221347 | Acrocyanosis | 7 | |
C0010691 | Cystinuria | 4 | |
C0010692 | Cystitis | 4 | |
C1842408 | Increased risk of pancreatic cancer | 9 | |
C1846546 | Recurrent sinopulmonary infections | 6 | |
C0011071 | Sudden death | 17 | |
C0086132 | Depressive Symptoms | 29 | |
C0042373 | Vascular Diseases | 16 | |
C0152132 | Hypertensive Retinopathy | 6 | |
C0036489 | Sea-Blue Histiocyte Syndrome | 5 | |
C0152427 | Polydactyly | 28 | |
C1861829 | Cataract microcornea syndrome | 8 | |
C0152423 | Congenital small ears | 48 | |
C0152421 | Macrotia | 87 | |
C3277418 | Gastrointestinal hamartomatous polyps | 10 | |
C0455988 | Hydrops Fetalis, Non-Immune | 9 | |
C1854310 | Hypotrichosis simplex | 7 | |
C1848395 | Large for gestational age | 11 | |
C0856863 | Broad-based gait | 19 | |
C0033054 | Prenatal Exposure Delayed Effects | 10 | |
C0949804 | Polyomavirus Infections | 6 | |
C0004509 | Azoospermia | 31 | |
C0014848 | Esophageal Achalasia | 9 | |
C2267233 | Neonatal Hypotonia | 64 | |
C0014591 | Epistaxis | 43 | |
C0023281 | Leishmaniasis | 9 | |
C0426870 | Large hand | 18 | |
C0005904 | Body Temperature Changes | 10 | |
C2132198 | Abnormal blistering of the skin | 55 | |
C0032019 | Pituitary Neoplasms | 6 | |
C1833325 | Thin bony cortex | 9 | |
C1833328 | Enlarged epiphyses | 4 | |
C0009171 | Cocaine Abuse | 16 | |
C4020838 | Relative short stature | 13 | |
C4020839 | Multiple vertebral anomalies | 16 | |
C0206160 | Reticulocytosis | 20 | |
C4020830 | Fatty acids abnormal | 6 | |
C0043202 | Wolff-Parkinson-White Syndrome | 6 | |
C0432040 | Simple syndactyly of toes, first web space | 23 | |
C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | 10 | |
C0003886 | Arthrogryposis | 54 | |
C0027121 | Myositis | 4 | |
C0342388 | Adrenocorticotropic hormone (ACTH) deficiency (disorder) | 4 | |
C0027125 | Myotonia | 10 | |
C0342384 | Idiopathic hypogonadotropic hypogonadism | 9 | |
C1855067 | Low B cell count | 7 | |
C1855062 | Large dysplastic ears | 87 | |
C0220994 | Hyperammonemia | 30 | |
C0085271 | Self-Injurious Behavior | 12 | |
C1856266 | Coronal craniosynostosis | 14 | |
C0011644 | Scleroderma | 7 | |
C1837802 | Decreased serum leptin | 6 | |
C0027022 | Myeloproliferative disease | 16 | |
C0399385 | Early tooth exfoliation | 16 | |
C4024345 | Radial deviation of the 3rd finger | 4 | |
C1858574 | Sparse axillary hair | 28 | |
C1858573 | Sparse pubic hair | 31 | |
C0234133 | Extrapyramidal sign | 29 | |
C1854111 | Broad philtrum | 4 | |
C1838319 | Primitive reflexes (palmomental, snout, glabellar) | 7 | |
C1856087 | Biconcave vertebral bodies | 9 | |
C0268630 | Hyper-beta-alaninemia | 9 | |
C0028326 | Noonan Syndrome | 17 | |
C1855681 | Nephronophthisis, familial juvenile | 5 | |
C0154676 | Organic writer's cramp | 10 | |
C0154671 | Degenerative brain disorder | 100 | |
C0344735 | Partial atrioventricular canal | 5 | |
C1857130 | Hypoplastic mandible condyle | 276 | |
C0012739 | Disseminated Intravascular Coagulation | 9 | |
C0024228 | Lymphatic Diseases | 14 | |
C1834570 | Myoclonic dystonia | 4 | |
C0730362 | Disorder of macula of retina | 6 | |
C0239998 | Recurrent infections | 47 | |
C0085669 | Acute leukemia | 6 | |
C1832200 | Peroxisome biogenesis disorders | 11 | |
C1857353 | Posterior fossa cyst | 8 | |
C0162154 | Atrophic scar | 17 | |
C0267812 | Micronodular cirrhosis | 12 | |
C0267818 | Bile duct proliferation | 9 | |
C0007760 | Cerebellar Diseases | 6 | |
C0038356 | Stomach Neoplasms | 299 | |
C0038358 | Gastric ulcer | 18 | |
C1720771 | Testicular Hydrocele | 8 | |
C1400105 | Hypertrophy of nose | 23 | |
C1318518 | Infantile malignant osteopetrosis | 4 | |
C0034895 | Rectovaginal Fistula | 5 | |
C1398522 | Cleft palate and bilateral cleft lip | 4 | |
C3178805 | Heterotaxy Syndrome | 4 | |
C0156394 | Hypertrophy of clitoris | 40 | |
C0019080 | Hemorrhage | 17 | |
C0019087 | Hemorrhagic Disorders | 30 | |
C1704375 | Hypophosphatemic Rickets | 11 | |
C0002902 | Anencephaly | 7 | |
C0025312 | Meningomyelocele | 6 | |
C0039590 | Testicular Neoplasms | 6 | |
C0241654 | VALVULAR ABNORMALITY | 12 | |
C0022336 | Creutzfeldt-Jakob disease | 10 | |
C0003507 | Aortic Valve Stenosis | 20 | |
C0019880 | Homocystinuria | 7 | |
C3806330 | Osteomyelitis due to immunodeficiency | 4 | |
C1836450 | Distal lower limb muscle weakness | 6 | |
C0018133 | Graft-vs-Host Disease | 5 | |
C1848486 | Premature arteriosclerosis | 5 | |
C0014457 | Eosinophilia | 27 | |
C0311375 | Arsenic Poisoning | 61 | |
C0018681 | Headache | 37 | |
C1837496 | Axonal degeneration | 7 | |
C0220697 | POLYDACTYLY, POSTAXIAL | 13 | |
C0241358 | Increased testosterone | 4 | |
C0231246 | Failure to gain weight | 364 | |
C0236969 | Substance-Related Disorders | 112 | |
C0241355 | Small testicle | 76 | |
C0206754 | Neuroendocrine Tumors | 11 | |
C4021776 | Abnormality of the voice | 46 | |
C4021774 | Camptodactyly of toe | 4 | |
C0741494 | Elevated total bilirubin | 6 | |
C0544886 | Somatic mutation | 62 | |
C0011253 | Delusions | 11 | |
C0016689 | Freckles | 33 | |
C1848530 | Abnormal visual pursuit | 13 | |
C0235430 | Ketonemia | 10 | |
C0151721 | Testicular hypogonadism | 21 | |
C0151723 | Hypomagnesemia | 12 | |
C0280631 | Leiomyosarcoma of uterus | 13 | |
C4023616 | Abnormality of immune system physiology | 16 | |
C3544092 | Urgency frequency syndrome | 14 | |
C0037771 | Paraparesis, Spastic | 16 | |
C0037773 | Spastic Paraplegia, Hereditary | 5 | |
C0037772 | Spastic Paraplegia | 42 | |
C1856749 | Hypoplastic-absent toenails | 11 | |
C0279680 | Transitional cell carcinoma of bladder | 17 | |
C0919532 | Genomic Instability | 4 | |
C3150267 | Increased plasma renin activity | 8 | |
C1262477 | Weight decreased | 103 | |
C1301959 | Bulbar weakness | 19 | |
C1846707 | SPINOCEREBELLAR ATAXIA 17 | 9 | |
C0349464 | Wernicke-Korsakoff Syndrome | 4 | |
C3808039 | Nemaline rods | 7 | |
C0079301 | Junctional Epidermolysis Bullosa | 4 | |
C1864205 | Macular Degeneration, Age-Related, 1 | 9 | |
C2112129 | Postaxial foot polydactyly | 12 | |
C0578682 | Madarosis of eyebrow | 13 | |
C0581354 | Recurrent sinusitis | 21 | |
C0266551 | Congenital coloboma of iris | 4 | |
C0041755 | Adverse reaction to drug | 61 | |
C0015625 | Fanconi Anemia | 22 | |
C2673597 | Congenital localized absence of skin | 6 | |
C1849392 | Ridged fingernails | 4 | |
C4024202 | Reduced number of teeth | 21 | |
C1854489 | Limb dysmetria | 4 | |
C0686353 | Muscular Dystrophies, Limb-Girdle | 7 | |
C0877326 | Bone infarction | 8 | |
C0857460 | Increased number of platelets | 14 | |
C3280303 | Abnormal hair whorls | 5 | |
C0036601 | Self Mutilation | 14 | |
C0022521 | Kartagener Syndrome | 34 | |
C0442874 | Neuropathy | 52 | |
C0235986 | Growth hormone excess | 14 | |
C0235983 | Normochromic anemia | 6 | |
C0700225 | Serum creatinine raised | 7 | |
C1844709 | Second finger clinodactyly | 5 | |
C1844704 | Platyspondyly | 56 | |
C0005612 | Birth Weight | 13 | |
C0687751 | Acanthocytosis | 7 | |
C1836842 | Psychomotor degeneration | 4 | |
C0014866 | Esophageal Stenosis | 15 | |
C0014867 | Esophageal Varices | 6 | |
C0014868 | Esophagitis | 9 | |
C0009806 | Constipation | 140 | |
C0156273 | Bladder Diverticulum | 10 | |
C0262374 | Stricture of anus | 13 | |
C1865038 | Broad toes | 5 | |
C1836150 | Gait imbalance | 17 | |
C1865030 | Hypoplastic pubic bone | 7 | |
C2931822 | Nasopharyngeal carcinoma | 17 | |
C0027497 | Nausea | 17 | |
C0027498 | Nausea and vomiting | 85 | |
C0013595 | Eczema | 44 | |
C0013592 | Ectropion | 21 | |
C0029434 | Osteogenesis Imperfecta | 4 | |
C0948089 | Acute Coronary Syndrome | 33 | |
C0029927 | Ovarian Cysts | 41 | |
C0033922 | Psychomotor Disorders | 7 | |
C0011998 | Diastema of Teeth | 4 | |
C4021592 | Unilateral primary pulmonary dysgenesis | 5 | |
C0011991 | Diarrhea | 117 | |
C0268435 | Renal Tubular Acidosis, Type II | 4 | |
C0268389 | Amyloidosis, familial visceral | 4 | |
C0333864 | Giant platelet (morphologic abnormality) | 5 | |
C1839424 | Increased blood alanine | 9 | |
C0473133 | Protracted diarrhea | 6 | |
C0026613 | Motor Skills Disorders | 7 | |
C0344539 | Hypoplasia of iris | 10 | |
C0344530 | Congenital keratoglobus | 14 | |
C0344531 | Embryotoxon | 28 | |
C0011195 | Dejerine-Sottas Disease (disorder) | 5 | |
C0268654 | Iminoglycinuria | 4 | |
C0023493 | Adult T-Cell Lymphoma/Leukemia | 31 | |
C0023492 | Leukemia, T-Cell | 5 | |
C0015523 | Factor XI Deficiency | 5 | |
C1834558 | Myopathy, Centronuclear, Autosomal Dominant | 5 | |
C0012715 | Iron Metabolism Disorders | 5 | |
C1843700 | Variation in muscle fiber size | 16 | |
C0241577 | Catecholamines urine increased | 5 | |
C1859241 | Elevated long chain fatty acids | 4 | |
C1862144 | Hypoplastic/aplastic middle phalanx (2nd finger) | 4 | |
C2364082 | Sense of smell impaired | 21 | |
C1138421 | Spider Veins | 17 | |
C0000786 | Spontaneous abortion | 112 | |
C0457133 | Muscle eye brain disease | 8 | |
C0266122 | Cleft uvula | 27 | |
C0001925 | Albuminuria | 21 | |
C1970257 | Decreased serum complement factor I | 4 | |
C0267834 | Liver cyst | 4 | |
C0007787 | Transient Ischemic Attack | 10 | |
C0007786 | Brain Ischemia | 78 | |
C0007785 | Cerebral Infarction | 10 | |
C0155299 | Coloboma of optic disc | 9 | |
C4023551 | Abnormality of dental color | 5 | |
C0007789 | Cerebral Palsy | 15 | |
C4023004 | Increased serum bile acid concentration | 4 | |
C4025899 | Abnormality of male internal genitalia | 4 | |
C4025892 | Abnormality of the labia | 9 | |
C4025891 | Ambiguous genitalia, female | 9 | |
C4025896 | Abnormality of the penis | 7 | |
C4025895 | Abnormality of the scrotum | 9 | |
C0162285 | Edema of eyelid | 10 | |
C0457756 | Tooth absent | 5 | |
C0162283 | Nephrogenic Diabetes Insipidus | 7 | |
C0751435 | Hyperphenylalaninaemia | 5 | |
C0338656 | Impaired cognition | 94 | |
C0549567 | Pigmentation Disorders | 5 | |
C2711227 | Steatohepatitis | 44 | |
C1866231 | Full cheeks | 50 | |
C1866234 | Protruding lower lip | 54 | |
C0576093 | Knee joint valgus deformity | 56 | |
C0541764 | Delayed bone age | 136 | |
C0586553 | Raised TSH level | 8 | |
C0027796 | Neuralgia | 14 | |
C0027794 | Neural Tube Defects | 30 | |
C1328840 | Autoimmune Lymphoproliferative Syndrome | 6 | |
C0162820 | Dermatitis, Allergic Contact | 66 | |
C0008031 | Chest Pain | 38 | |
C1859678 | Mental deterioration in childhood | 88 | |
C0752166 | Bardet-Biedl Syndrome | 22 | |
C0014474 | Ependymoma | 14 | |
C1955934 | Trichothiodystrophy Syndromes | 6 | |
C1836308 | Generalized joint laxity | 6 | |
C4021570 | Undetectable light- and dark-adapted electroretinogram | 6 | |
C1274865 | Scleroderma-like secondary cutaneous sclerosis | 7 | |
C0206733 | Strawberry nevus of skin | 10 | |
C0345030 | Peripheral pulmonary artery stenosis | 14 | |
C1855456 | PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL | 4 | |
C1855185 | Widened phalanges | 4 | |
C0742038 | Cerebellar signs | 4 | |
C4021790 | Abnormality of the skeletal system | 11 | |
C4021792 | Abnormality of the clavicle | 14 | |
C4021796 | Renal steatosis | 4 | |
C4021797 | Abnormality of the thorax | 19 | |
C4021799 | Restrictive behavior | 8 | |
C0017178 | Gastrointestinal Diseases | 12 | |
C1847967 | OVARIOLEUKODYSTROPHY | 6 | |
C0151529 | Bleeding time prolonged | 31 | |
C0151526 | Premature Birth | 76 | |
C1850601 | Brainstem abnormalities | 7 | |
C0018800 | Cardiomegaly | 113 | |
C0018802 | Congestive heart failure | 59 | |
C1848514 | Short fourth metatarsals | 4 | |
C0009324 | Ulcerative Colitis | 59 | |
C0271578 | Female hypogonadism syndrome | 18 | |
C0269269 | Inversion of nipple (disorder) | 7 | |
C1442988 | Rudimentary vagina | 14 | |
C1860050 | Cloverleaf skull | 7 | |
C1865572 | Proximally placed thumbs | 17 | |
C4024912 | Occipital myelomeningocele | 8 | |
C0003123 | Anorexia | 34 | |
C0003126 | Anosmia | 22 | |
C3887640 | Astrocytosis | 4 | |
C1275808 | Congenital central hypoventilation | 6 | |
C1858430 | Death in infancy | 82 | |
C3714497 | Reactive airway disease | 21 | |
C0677050 | Manganese Poisoning | 10 | |
C0035220 | Respiratory Distress Syndrome, Newborn | 4 | |
C1853118 | Severe congenital neutropenia | 6 | |
C0338462 | Semantic Dementia | 7 | |
C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | 11 | |
C0332878 | Congenital joint contractures | 9 | |
C0085159 | Seasonal Affective Disorder | 16 | |
C0007959 | Charcot-Marie-Tooth Disease | 7 | |
C0039621 | Tetany | 18 | |
C0027947 | Neutropenia | 13 | |
C3665596 | Warts | 10 | |
C1857586 | CONOTRUNCAL HEART MALFORMATIONS (disorder) | 5 | |
C2746066 | Combined D-2- and L-2-hydroxyglutaric aciduria | 4 | |
C0010964 | Dandy-Walker Syndrome | 30 | |
C0037822 | Speech Disorders | 59 | |
C0013144 | Drowsiness | 7 | |
C0748140 | Multiple pulmonary infections | 28 | |
C1864796 | Pectus excavatum inferiorly | 5 | |
C0870082 | Hyperkeratosis | 45 | |
C0423250 | Corneal stromal opacities | 33 | |
C4021386 | Abnormality of the elbow | 6 | |
C4025799 | Ulnar claw | 6 | |
C0750937 | Ataxia, Appendicular | 25 | |
C4025790 | Specific learning disability | 48 | |
C1879286 | Hereditary bundle branch system defect | 4 | |
C1861866 | Hypoplasia or absence of the corpus callosum | 23 | |
C1861869 | Underdeveloped supraorbital ridges | 38 | |
C1398312 | Narrow palate | 20 | |
C0752282 | Congenital Structural Myopathy | 4 | |
C1842914 | Adult-Onset Vitelliform Macular Dystrophy | 4 | |
C0010036 | Corneal dystrophy | 13 | |
C0553692 | Brain hemorrhage | 14 | |
C0019189 | Hepatitis, Chronic | 23 | |
C0021359 | Infertility | 31 | |
C4280421 | Abnormally small eyeball on both sides | 5 | |
C0002064 | Alkalosis, Respiratory | 5 | |
C0410190 | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | 4 | |
C4280422 | Bilateral nanophthalmos | 5 | |
C1866689 | Shortened sacroiliac notches | 4 | |
C0013604 | Edema | 68 | |
C0005944 | Metabolic Bone Disorder | 11 | |
C0015469 | Facial paralysis | 4 | |
C0005941 | Bone Diseases, Developmental | 25 | |
C0005940 | Bone Diseases | 8 | |
C1865017 | Thin upper lip vermilion | 68 | |
C1865014 | Long philtrum | 137 | |
C0746674 | Generalized muscle weakness | 57 | |
C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 43 | |
C1969913 | Hyperkeratosis, generalized | 14 | |
C0521620 | Dilatation of ureter | 15 | |
C0011581 | Depressive disorder | 395 | |
C0151889 | Hyperreflexia | 209 | |
C0011606 | Exfoliative dermatitis | 24 | |
C0524909 | Hepatitis B, Chronic | 7 | |
C0011603 | Dermatitis | 8 | |
C0011609 | Drug Eruptions | 18 | |
C1306837 | Papillary Renal Cell Carcinoma | 4 | |
C0271844 | Parathyroid hyperplasia | 6 | |
C0006142 | Malignant neoplasm of breast | 15 | |
C0392476 | Epiphyseal dysplasia | 14 | |
C0344511 | Atresia of nasolacrimal duct | 4 | |
C0344516 | Coloboma of lens | 4 | |
C0700208 | Acquired scoliosis | 282 | |
C0427144 | Toe-walking gait | 4 | |
C0427149 | Gait, Drop Foot | 24 | |
C0034362 | Q Fever | 5 | |
C1335929 | Schwannomatosis | 4 | |
C0023473 | Myeloid Leukemia, Chronic | 23 | |
C0023470 | Myeloid Leukemia | 17 | |
C0023479 | Acute myelomonocytic leukemia | 5 | |
C1848980 | Developmental arrest | 4 | |
C1857175 | Hypertension, episodic | 5 | |
C0243026 | Sepsis | 21 | |
C4021550 | Elevated follicle stimulating hormone | 15 | |
C2242472 | Infection of bone | 16 | |
C4072880 | Abnormality of hair consistency | 5 | |
C4072881 | Abnormality of hair curl pattern | 5 | |
C0745103 | Hyperlipoproteinemia Type IIa | 11 | |
C4023796 | Aplasia/Hypoplasia of the thymus | 4 | |
C1842587 | Sensory axonal neuropathy | 7 | |
C0030283 | Pancreatic Cyst | 4 | |
C4082764 | Gastrointestinal infection | 4 | |
C0030286 | Pancreatic Diseases | 8 | |
C0266456 | Meningoencephalocele | 4 | |
C0431659 | Hypoplasia of scrotum | 24 | |
C1136179 | Hammer Toe | 23 | |
C0162119 | Hemoglobin low | 125 | |
C4023577 | Abnormality of the intrahepatic bile duct | 8 | |
C0423110 | Downward slant of palpebral fissure | 159 | |
C0423112 | Short palpebral fissure | 38 | |
C0423113 | Telecanthus | 62 | |
C1800706 | Idiopathic Pulmonary Fibrosis | 14 | |
C0036857 | Severe mental retardation (I.Q. 20-34) | 99 | |
C0004045 | Asphyxia Neonatorum | 7 | |
C0553730 | Calcium pyrophosphate deposition disease | 13 | |
C0747085 | Recurrent otitis media | 41 | |
C1849211 | Generalized hirsutism | 36 | |
C2830004 | Somnolence | 15 | |
C0742906 | C-reactive protein increased | 15 | |
C0236664 | Alcohol-Related Disorders | 5 | |
C0236663 | Alcohol withdrawal syndrome | 11 | |
C0239488 | Facial erythema | 4 | |
C1408507 | Supranuclear ophthalmoplegia | 4 | |
C0272199 | Familial Hemophagocytic Lymphocytosis | 4 | |
C0426429 | Broad nasal tip | 28 | |
C0426428 | Bifid nasal tip | 4 | |
C0238288 | Muscular Dystrophy, Facioscapulohumeral | 11 | |
C0338831 | Manic | 13 | |
C0426422 | Narrow nose | 21 | |
C0426421 | Wide nose | 35 | |
C1263857 | Peripheral axonal neuropathy | 18 | |
C0376175 | Bell Palsy | 58 | |
C0343065 | Symptomatic dermographism | 7 | |
C0042076 | Urologic Neoplasms | 8 | |
C0152237 | Talipes Calcaneovalgus | 6 | |
C0311338 | Fundus Albipunctatus | 4 | |
C4021553 | Periodic hypokalemic paresis | 7 | |
C4021551 | Absence of secondary sex characteristics | 22 | |
C3553764 | Joint hyperflexibility | 77 | |
C1863360 | Radiohumeral synostosis of elbow | 8 | |
C0600519 | Ventricular Remodeling | 5 | |
C0022661 | Kidney Failure, Chronic | 45 | |
C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 12 | |
C1142533 | Smooth philtrum | 43 | |
C1385263 | facial deformity | 47 | |
C0520743 | Mediastinal lymphadenopathy | 10 | |
C1857949 | Prominent metopic ridge | 15 | |
C0086795 | Pfaundler-Hurler Syndrome | 12 | |
C2931456 | Prostate cancer, familial | 13 | |
C0013415 | Dysthymic Disorder | 6 | |
C0018824 | Heart valve disease | 36 | |
C1848570 | Large, floppy ears | 87 | |
C2931189 | Neural crest tumor | 7 | |
C1838186 | Square iliac bones | 4 | |
C2931673 | Ceroid lipofuscinosis, neuronal 1, infantile | 10 | |
C0206718 | Ganglioneuroblastoma | 7 | |
C0584837 | Choanal stenosis | 11 | |
C0206711 | Pilomatrixoma | 4 | |
C0175693 | Russell-Silver syndrome | 4 | |
C1866862 | Highly variable severity | 150 | |
C1866863 | Lower limb atrophy | 8 | |
C0240547 | Nose deformity | 4 | |
C0240543 | Bulbous nose | 48 | |
C0020532 | Hypersplenism | 4 | |
C0027960 | Nevus | 19 | |
C0020534 | Orbital separation excessive | 245 | |
C0020538 | Hypertensive disease | 281 | |
C1832451 | Hyperostosis of cranial vault | 7 | |
C1839764 | Broad flat nasal bridge | 237 | |
C1839767 | Inverted V-shaped upper lip | 19 | |
C0234708 | Raised intraocular pressure | 4 | |
C4072848 | HyperMineralization of skull base | 5 | |
C0270685 | Cerebral calcification | 36 | |
C1849025 | Oval face | 5 | |
C1849020 | Short metatarsal | 21 | |
C1835581 | Large protruding ears | 87 | |
C1849172 | Frontal lobe hypoplasia | 9 | |
C0265642 | Talipes Equinovalgus | 4 | |
C1865037 | Cone-shaped epiphyses | 24 | |
C0423276 | Shallow anterior chamber of eye | 4 | |
C0424551 | Impaired exercise tolerance | 42 | |
C0265989 | Congenital scar | 13 | |
C3551052 | Night blindness, stationary | 9 | |
C4023211 | Adrenocorticotropin deficient adrenal insufficiency | 4 | |
C0563243 | Poor coordination | 11 | |
C0024437 | Macular degeneration | 16 | |
C0232831 | Impairment of urinary concentration | 5 | |
C0024433 | Macrostomia | 72 | |
C4280623 | Rotting teeth | 73 | |
C4280627 | Failure of development of eyelashes | 16 | |
C4280626 | Aplasia of eyelashes | 16 | |
C4280625 | Decreased size of eyeball | 97 | |
C4280624 | Blind spot located at fixation point | 11 | |
C1868528 | Orthostatic hypotension due to autonomic dysfunction | 5 | |
C4280629 | Hyperplasia of nose | 23 | |
C4280628 | Malformation of the neck | 19 | |
C0010054 | Coronary Arteriosclerosis | 6 | |
C0162635 | Angelman Syndrome | 4 | |
C0019163 | Hepatitis B | 12 | |
C0162323 | Polyarthritis | 11 | |
C4280443 | Absent bone maturation in sternum | 4 | |
C1955870 | Classical Lissencephalies and Subcortical Band Heterotopias | 4 | |
C3276036 | High anterior hairline | 7 | |
C0005967 | Bone neoplasms | 8 | |
C4048273 | Chorioretinal atrophy | 11 | |
C4048270 | Decreased antibody level in blood | 35 | |
C4020898 | Overactive bladder syndrome | 14 | |
C4020894 | Submucous clefting | 9 | |
C4020895 | Genitourinary dysplasia | 6 | |
C4020897 | Uroureter | 15 | |
C4020890 | Notched nasal tip | 4 | |
C4020891 | Pinched nasal bridge | 15 | |
C4020892 | Capuchin ears | 17 | |
C0836924 | Thrombocytosis | 14 | |
C1856953 | Palmar hyperhidrosis | 5 | |
C1856954 | Plantar hyperkeratosis | 7 | |
C1835171 | Hypomagnesemia 2, renal | 4 | |
C0035344 | Retinopathy of Prematurity | 4 | |
C1450010 | Plagiocephaly, Nonsynostotic | 20 | |
C1847515 | Abnormal eye movements, paroxysmal | 5 | |
C1847514 | Postnatal microcephaly | 24 | |
C0545053 | Advanced bone age | 35 | |
C0240379 | Open mouth | 45 | |
C0013080 | Down Syndrome | 14 | |
C3276441 | Decreased activity of mitochondrial respiratory complexes | 5 | |
C0342491 | Small adrenal gland | 12 | |
C0033806 | Pseudohypoparathyroidism | 4 | |
C0746926 | Multiple, subcutaneous nodules | 54 | |
C0151311 | Cranial nerve palsies | 11 | |
C0151313 | Sensory neuropathy | 19 | |
C0566620 | Nasal voice | 40 | |
C0042842 | Vitamin A Deficiency | 6 | |
C1846566 | Degeneration of the lateral corticospinal tracts | 6 | |
C1839972 | Increased IgM levels | 16 | |
C0346302 | Growth Hormone-Secreting Pituitary Adenoma | 5 | |
C4022025 | Asymmetric growth | 5 | |
C4022020 | Mucosal telangiectasiae | 14 | |
C1854882 | Absent speech | 43 | |
C0700590 | Increased sweating | 81 | |
C1865292 | Nonketotic hypoglycemia | 6 | |
C0750384 | Coumarin Resistance | 4 | |
C0685684 | Congenital hypoplasia of nose | 5 | |
C2749604 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | 5 | |
C4022798 | Abnormal brain FDG positron emission tomography | 9 | |
C2748958 | Increased susceptibility to bacterial infections | 40 | |
C0023186 | Learning Disorders | 29 | |
C0265341 | Rieger syndrome | 8 | |
C0265343 | Jarcho-Levin syndrome | 5 | |
C1857627 | Chorioretinal dystrophy | 4 | |
C0205700 | Asymmetric Septal Hypertrophy | 7 | |
C0023234 | Legg-Calve-Perthes Disease | 6 | |
C1112256 | Peripheral sensorimotor neuropathy | 16 | |
C4021634 | Abnormality of bone marrow cell morphology | 4 | |
C1619700 | RENAL ADYSPLASIA | 24 | |
C0234518 | Slurred speech | 7 | |
C1839025 | Decreased amplitudes on flash visual electroretinogram | 13 | |
C0266470 | Cerebellar Hypoplasia | 61 | |
C0206732 | Epithelioid hemangioendothelioma | 5 | |
C0206731 | Angiofibroma | 7 | |
C4023511 | Obtundation status | 7 | |
C2678303 | Hoarse cry | 5 | |
C0019572 | Hirsutism | 47 | |
C0036875 | Disorders of Sex Development | 5 | |
C0020981 | Angioimmunoblastic Lymphadenopathy | 4 | |
C0239937 | Microscopic hematuria | 9 | |
C0239935 | Hematocrit increased | 5 | |
C0005779 | Blood Coagulation Disorders | 42 | |
C1858395 | Tubular atrophy | 10 | |
C1704317 | Leukokeratosis | 19 | |
C4280268 | Underdevelopment of facial bones | 4 | |
C4025329 | Abnormality of the anus | 6 | |
C0152031 | Joint swelling | 26 | |
C4280262 | Dystrophic tooth enamel | 31 | |
C4025320 | Craniofacial asymmetry | 5 | |
C0240340 | Microdontia (disorder) | 58 | |
C1697453 | Spontaneous haematoma | 8 | |
C0008073 | Developmental Disabilities | 21 | |
C4280264 | Premature plaque build-up in arteries | 4 | |
C0272242 | Complement deficiency disease | 6 | |
C3151520 | Early severe fetal akinesia sequence | 11 | |
C1859447 | Hypoplastic ischia | 11 | |
C0175702 | Williams Syndrome | 9 | |
C0949506 | Porokeratosis of Mibelli | 4 | |
C0949059 | Polyp of large intestine | 8 | |
C1840305 | Absent external auditory canals | 23 | |
C3805420 | Popliteal pterygium | 4 | |
C0332615 | Myopathic facies | 13 | |
C1840309 | Short 4th metacarpal | 7 | |
C0263401 | Cutis marmorata | 32 | |
C0231807 | Dyspnea on exertion | 24 | |
C0016663 | Pathological fracture | 20 | |
C0012569 | Diplopia | 8 | |
C0432123 | Interparietal craniosynostosis | 6 | |
C1845877 | Microphthalmia, Isolated, with Coloboma 1 | 8 | |
C0018843 | Heat Stroke | 13 | |
C0151786 | Muscle Weakness | 164 | |
C0344307 | Absence of pain sensation | 5 | |
C0854723 | Retinal Dystrophies | 33 | |
C0018808 | Heart murmur | 5 | |
C2985290 | Fetal Alcohol Spectrum Disorders | 13 | |
C0079731 | B-Cell Lymphomas | 12 | |
C0678230 | Congenital Epicanthus | 178 | |
C0220722 | Cerebrooculofacioskeletal Syndrome 1 | 4 | |
C0018801 | Heart failure | 152 | |
C0033300 | Progeria | 5 | |
C0020514 | Hyperprolactinemia | 10 | |
C0020517 | Hypersensitivity | 62 | |
C0521173 | Granulomatosis | 7 | |
C1301937 | Talipes | 20 | |
C2675920 | Anisopoikilocytosis | 4 | |
C0270914 | Hereditary Motor and Sensory-Neuropathy Type II | 4 | |
C0014173 | Endometrial Hyperplasia | 5 | |
C0238651 | Ankle clonus | 6 | |
C0265660 | Syndactyly of the toes | 45 | |
C0149745 | Oral Ulcer | 15 | |
C4022587 | Fatigable weakness of respiratory muscles | 28 | |
C4022588 | Fatigable weakness of swallowing muscles | 28 | |
C1868720 | Periventricular Nodular Heterotopia | 4 | |
C3550658 | Maternal oligohydramnios | 32 | |
C1857453 | Renal hypoplasia/aplasia | 7 | |
C1857456 | Middle ear malformations | 5 | |
C1842774 | Hyperpigmented macules | 41 | |
C0266313 | Allanson Pantzar McLeod syndrome | 4 | |
C0021390 | Inflammatory Bowel Diseases | 28 | |
C0162309 | Adrenoleukodystrophy | 6 | |
C0015644 | Muscular fasciculation | 22 | |
C1405854 | Retinitis punctata albescens (disorder) | 4 | |
C0042487 | Venous Thrombosis | 46 | |
C0042485 | Venous Insufficiency | 4 | |
C4025170 | Osteoporosis of vertebrae | 5 | |
C0037317 | Sleep disturbances | 37 | |
C0037315 | Sleep Apnea Syndromes | 14 | |
C0042138 | Uterine Neoplasms | 8 | |
C4280601 | Xanthoma of periocular region | 5 | |
C4280603 | Increased size of palpebral fissures | 9 | |
C4280602 | Xanthelasma of periocular region | 5 | |
C4280604 | Speckled iris | 4 | |
C4280607 | Small wings of the pelvic girdle | 12 | |
C4280606 | Hanging skin | 24 | |
C0398650 | Immune thrombocytopenic purpura | 23 | |
C1609433 | Congenital absence of kidneys syndrome | 5 | |
C3536714 | Renal dysplasia | 24 | |
C0027430 | Nasal Polyps | 10 | |
C0001403 | Addison Disease | 18 | |
C0027439 | Nasopharyngeal Neoplasms | 9 | |
C0003803 | Arnold Chiari Malformation | 11 | |
C1837082 | Metaphyseal cupping | 10 | |
C0033941 | Psychoses, Substance-Induced | 17 | |
C1837087 | Macular pigmentary changes | 15 | |
C1837084 | Short metacarpal | 43 | |
C0079924 | Oligohydramnios | 32 | |
C0240310 | Hypoplasia of the maxilla | 66 | |
C1849547 | Acro-osteolysis of distal phalanges | 4 | |
C1849540 | Delayed eruption of permanent teeth | 8 | |
C0746940 | nonverbal | 43 | |
C0206698 | Cholangiocarcinoma | 25 | |
C4022001 | Abnormality of the cerebral vasculature | 6 | |
C4022003 | Erectile abnormalities | 16 | |
C0002171 | Alopecia Areata | 11 | |
C0002170 | Alopecia | 88 | |
C0428977 | Bradycardia | 36 | |
C1969372 | Tubulointerstitial fibrosis | 11 | |
C0948023 | Urine phosphorous concentration above normal | 21 | |
C3277376 | Multiple mitochondrial DNA (mtDNA) deletions | 5 | |
C1859117 | Recurrent pulmonary infections | 28 | |
C0409477 | Ankylosis of the elbow joint | 7 | |
C0023434 | Chronic Lymphocytic Leukemia | 37 | |
C4025619 | Peripheral axonal atrophy | 4 | |
C1527311 | Brain Edema | 32 | |
C0265325 | Turcot syndrome (disorder) | 5 | |
C0344290 | Vitreoretinal degeneration | 9 | |
C0853068 | Glomerular filtration rate decreased | 6 | |
C0006271 | Bronchiolitis | 5 | |
C1834060 | Short middle phalanx of the 5th finger | 13 | |
C4072842 | Omega shaped hypophysial fossa | 6 | |
C4072847 | HyperCalcification of skull base | 5 | |
C0016059 | Fibrosis | 41 | |
C4072849 | Scapular weakness | 23 | |
C4280585 | Hypoplasia of columella | 7 | |
C0007279 | Carotid Body Paraganglioma | 4 | |
C0007274 | Carotid Artery Thrombosis | 4 | |
C1865412 | Abnormal lower motor neuron morphology | 6 | |
C0878659 | Short stature, disproportionate | 9 | |
C1838391 | Limb hypertonia | 5 | |
C1956346 | Coronary Artery Disease | 74 | |
C3696376 | 3-Methylglutaconic Aciduria | 5 | |
C0026633 | Mouth Abnormalities | 14 | |
C0751362 | Narcolepsy-Cataplexy Syndrome | 8 | |
C1851854 | Thin dental enamel | 35 | |
C0242488 | Acute Lung Injury | 18 | |
C0751884 | Congenital Myasthenic Syndromes, Presynaptic | 8 | |
C0019555 | Hip Dislocation, Congenital | 48 | |
C1843496 | Microphthalmia, bilateral | 5 | |
C0011206 | Delirium | 10 | |
C0454555 | Hypernasal voice | 40 | |
C1321329 | Slowed saccades | 11 | |
C0024667 | Animal Mammary Neoplasms | 136 | |
C0451696 | Major histocompatibility complex class II deficiency | 4 | |
C0451695 | Major histocompatibility complex class I deficiency | 4 | |
C0677598 | Stomatocytosis Result | 6 | |
C0240083 | joint abnormality | 5 | |
C0024668 | Mammary Neoplasms, Experimental | 153 | |
C4024167 | Abnormality of the antitragus | 5 | |
C3808249 | Optic disc abnormalities | 12 | |
C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | 16 | |
C0079153 | Hyperkeratosis, Epidermolytic | 7 | |
C0152013 | Adenocarcinoma of lung (disorder) | 60 | |
C0752109 | Brain Diseases, Metabolic, Inborn | 4 | |
C1456240 | Narcolepsy without cataplexy | 4 | |
C1970497 | Crumpled long bones | 5 | |
C1969144 | Renal cortical cysts | 4 | |
C0002768 | Congenital Pain Insensitivity | 6 | |
C0887833 | Carcinoma, Pancreatic Ductal | 20 | |
C0033774 | Pruritus | 58 | |
C0237873 | Physiological Sexual Disorders | 4 | |
C4280365 | Hyperplasia of columella | 4 | |
C0563449 | Epispadias, male (disorder) | 4 | |
C2931418 | Bare lymphocyte syndrome 2 | 4 | |
C0206062 | Lung Diseases, Interstitial | 5 | |
C0043349 | Xerophthalmia | 6 | |
C0043346 | Xeroderma Pigmentosum | 8 | |
C0432103 | Submucous cleft of hard palate | 11 | |
C0856747 | Aneurysm of ascending aorta | 5 | |
C4012359 | Pointed teeth | 8 | |
C3552099 | Respiratory insufficiency due to defective ciliary clearance | 6 | |
C0003492 | Aortic coarctation | 30 | |
C1527405 | Erythrocytosis | 8 | |
C0003499 | Supravalvular aortic stenosis | 9 | |
C1862050 | Cochlear malformation | 5 | |
C0151934 | Hypogeusia | 5 | |
C1856121 | Broad eyebrows | 4 | |
C0003635 | Apraxias | 27 | |
C1839541 | Episodic ammonia intoxication | 4 | |
C1839546 | Microretrognathia | 13 | |
C1850667 | Highly variable phenotype and severity | 151 | |
C1866241 | Broad feet | 19 | |
C0007642 | Cellulitis | 8 | |
C0242567 | Opsoclonus | 5 | |
C0332890 | Congenital hemihypertrophy | 6 | |
C0011053 | Deafness | 195 | |
C2677762 | Tall forehead | 103 | |
C0039685 | Tetralogy of Fallot | 45 | |
C0020578 | Hyperventilation | 6 | |
C0268157 | Galactosuria | 4 | |
C0431863 | Carpal synostosis | 12 | |
C4024753 | Abnormality of the retinal vasculature | 59 | |
C4024756 | Abnormality of macular pigmentation | 15 | |
C0795907 | CONOTRUNCAL ANOMALY FACE SYNDROME | 9 | |
C0149725 | Lower respiratory tract infection | 12 | |
C0149721 | Left Ventricular Hypertrophy | 40 | |
C4274118 | Joubert syndrome with ocular defect | 4 | |
C0018798 | Congenital Heart Defects | 58 | |
C0014548 | Epilepsy, Generalized | 4 | |
C0036421 | Systemic Scleroderma | 12 | |
C0036939 | Shared Paranoid Disorder | 5 | |
C0027877 | Neuronal Ceroid-Lipofuscinoses | 4 | |
C0030305 | Pancreatitis | 36 | |
C1857479 | Short columella | 7 | |
C0876973 | Infectious disease of lung | 28 | |
C1836057 | Muscle fiber splitting | 7 | |
C1843005 | Absent eyelashes | 16 | |
C0037889 | Hereditary spherocytosis | 8 | |
C0162674 | Chronic progressive external ophthalmoplegia | 16 | |
C0162671 | MELAS Syndrome | 4 | |
C0162670 | Mitochondrial Myopathies | 12 | |
C0162678 | Neurofibromatoses | 5 | |
C1867060 | Lacrimal Puncta, Absence of | 4 | |
C4025626 | Elevated urinary norepinephrine | 5 | |
C1136249 | Mental Retardation, X-Linked | 23 | |
C1295585 | Decreased vibratory sense | 7 | |
C0920269 | Microsatellite Instability | 12 | |
C4280669 | Velopharyngeal dysfunction | 8 | |
C4280666 | Triangular head shape | 10 | |
C4280665 | Wedge shaped head | 10 | |
C4280664 | Big calvaria | 147 | |
C4280663 | Increased size of cranium | 147 | |
C4280662 | Abnormality of cranial vault shape | 5 | |
C2750180 | HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1 | 5 | |
C4280660 | Abnormality of head shape | 5 | |
C2751582 | Mitochondrial respiratory chain defects | 5 | |
C0027412 | Opioid-Related Disorders | 7 | |
C3536734 | Hypoplastic pelvis | 9 | |
C0021846 | Intestinal Polyps | 5 | |
C0021847 | Intestinal Pseudo-Obstruction | 4 | |
C0021841 | Intestinal Neoplasms | 11 | |
C0021843 | Intestinal Obstruction | 20 | |
C2607914 | Allergic rhinitis (disorder) | 5 | |
C1856912 | Disproportionately short middle phalanges | 6 | |
C4280482 | Flat back of the head | 26 | |
C1836737 | White eyebrows | 5 | |
C1836736 | White eyelashes | 5 | |
C1836735 | hypopigmented skin patch | 59 | |
C1836186 | Fibular aplasia | 6 | |
C3839460 | Nonprogressive | 12 | |
C0017075 | Ganglioneuroma | 7 | |
C1837066 | Recurrent viral infections | 15 | |
C0264303 | Laryngomalacia | 14 | |
C2937365 | Recurrent aphthous ulcer | 15 | |
C0262431 | Compression fracture of vertebral column | 14 | |
C0268307 | Conjugated hyperbilirubinemia | 14 | |
C1837602 | Painless fractures due to injury | 5 | |
C1837603 | Acral ulceration and osteomyelitis leading to autoamputation | 4 | |
C0035304 | Retinal Degeneration | 48 | |
C0035305 | Retinal Detachment | 33 | |
C0035309 | Retinal Diseases | 54 | |
C1855331 | Olfactory lobe absence | 6 | |
C1855333 | Small genitalia | 13 | |
C0564408 | Manic mood | 5 | |
C1848924 | Infantile onset | 236 | |
C0023418 | leukemia | 52 | |
C0235357 | Tooth hypoplasia | 7 | |
C1527336 | Sjogren's Syndrome | 12 | |
C1134719 | Invasive Ductal Breast Carcinoma | 9 | |
C0009080 | Clubbed Fingers | 4 | |
C0009081 | Congenital clubfoot | 110 | |
C4072863 | Dull foveal reflex | 9 | |
C0040411 | Tongue Neoplasms | 8 | |
C0271708 | Fasting Hypoglycemia | 8 | |
C1507149 | Partial chromosome Y deletion | 8 | |
C0423318 | Heterochromia iridis | 9 | |
C0155210 | Eyelid Xanthoma | 5 | |
C0085655 | Polymyositis | 5 | |
C0002453 | Amenorrhea | 6 | |
C0033847 | Pseudoxanthoma Elasticum | 4 | |
C1847117 | Dilated fourth ventricle | 4 | |
C0020490 | Hyperopia | 45 | |
C0020492 | Hyperostosis | 5 | |
C1857665 | Aplastic clavicles | 6 | |
C0677607 | Hashimoto Disease | 4 | |
C1853743 | Axial hypotonia | 46 | |
C1846449 | Irregular epiphyses | 10 | |
C0266435 | Congenital hypoplasia of penis | 177 | |
C0699743 | Congenital muscular dystrophy (disorder) | 14 | |
C1846228 | Absence of pubertal development | 17 | |
C0685409 | Congenital Camptodactyly | 40 | |
C0020225 | Hydranencephaly | 4 | |
C1846223 | Adrenal hypoplasia | 12 | |
C1846226 | Mineralocorticoid insufficiency | 12 | |
C0039538 | Teratoma | 4 | |
C3553395 | Microcolon on contrast enema | 4 | |
C0004936 | Mental disorders | 12 | |
C0032460 | Polycystic Ovary Syndrome | 155 | |
C4018871 | Abnormality of the respiratory system | 4 | |
C4025811 | Anemic pallor | 4 | |
C4025814 | Abnormality of the metaphyses | 48 | |
C1956097 | Wolf-Hirschhorn Syndrome | 4 | |
C4025819 | Abnormality of the hypothalamus-pituitary axis | 12 | |
C1849227 | CLEFT CHIN | 9 | |
C0015300 | Exophthalmos | 96 | |
C0853085 | Low density lipoprotein decreased | 5 | |
C0853087 | Nail abnormality | 22 | |
C2220104 | Blister of skin | 55 | |
C1970705 | Fragile hair | 25 | |
C0339527 | Leber Congenital Amaurosis | 19 | |
C0042580 | Vesico-Ureteral Reflux | 33 | |
C0010038 | Corneal Opacity | 53 | |
C0266781 | Abnormal amniotic fluid | 6 | |
C0948740 | Pituitary hypoplasia | 13 | |
C0025517 | Metabolic Diseases | 9 | |
C4280342 | Peg shaped front tooth | 6 | |
C4021242 | Hypoplasia of the zygomatic bone | 22 | |
C1848109 | Disproportionately long fibula | 4 | |
C0035854 | Rosacea | 4 | |
C1859480 | Cone-shaped epiphyses of phalanges | 15 | |
C1848103 | Narrow pelvis | 6 | |
C0334121 | Inflammatory Myofibroblastic Tumor | 6 | |
C0019829 | Hodgkin Disease | 15 | |
C1136382 | Sclerocystic Ovaries | 17 | |
C1844597 | Molluscoid pseudotumors | 5 | |
C0162538 | Immunoglobulin A deficiency (disorder) | 19 | |
C0162539 | IgG Deficiency | 22 | |
C0019825 | Hoarseness | 31 | |
C1168401 | Squamous cell carcinoma of the head and neck | 29 | |
C0743178 | Diarrhea, intractable | 6 | |
C0700635 | Strudwick syndrome | 5 | |
C0432163 | Defect of vertebral segmentation | 17 | |
C1865866 | Congenital sensorineural hearing loss | 12 | |
C4073292 | Afro-textured hair | 13 | |
C4073290 | Abnormality of hair volume | 5 | |
C4073291 | Hyperplasia of foramen magnum | 6 | |
C0238111 | Lennox-Gastaut syndrome | 5 | |
C1855106 | Neonatal onset | 21 | |
C3715165 | LEFT VENTRICULAR NONCOMPACTION 10 | 40 | |
C1851792 | Aplasia/Hypoplasia of the earlobes | 11 | |
C0085400 | Neurofibrillary degeneration (morphologic abnormality) | 9 | |
C0031149 | Peritoneal Neoplasms | 10 | |
C0270871 | Facial Myokymia | 4 | |
C0162834 | Hyperpigmentation | 36 | |
C0302280 | Adrenogenital Syndrome | 6 | |
C0271390 | Nystagmus, End-Position | 12 | |
C0079774 | Peripheral T-Cell Lymphoma | 9 | |
C0079773 | Lymphoma, T-Cell, Cutaneous | 22 | |
C0079772 | T-Cell Lymphoma | 13 | |
C1839603 | Proximal tubulopathy | 9 | |
C3163798 | Recurrent lower respiratory tract infection | 12 | |
C0919267 | ovarian neoplasm | 100 | |
C0020555 | Hypertrichosis | 24 | |
C0020557 | Hypertriglyceridemia | 12 | |
C0020550 | Hyperthyroidism | 14 | |
C3279601 | Reticular pigmentation pattern | 7 | |
C1561643 | Chronic Kidney Diseases | 13 | |
C1527344 | Dysphonia | 7 | |
C0026896 | Myasthenia Gravis | 6 | |
C1857278 | Partial or complete agenesis of corpus callosum | 9 | |
C0232513 | Premature tooth loss | 16 | |
C0013274 | Patent ductus arteriosus | 77 | |
C0007621 | Neoplastic Cell Transformation | 89 | |
C0027854 | Neurologic Manifestations | 4 | |
C0027859 | Acoustic Neuroma | 4 | |
C0010308 | Congenital Hypothyroidism | 14 | |
C1842229 | Broad metacarpals | 5 | |
C0038015 | Spondyloepiphyseal Dysplasia | 7 | |
C0038016 | Spondylolisthesis | 7 | |
C0038013 | Ankylosing spondylitis | 12 | |
C0038018 | Spondylolysis | 5 | |
C0393590 | Fahr's syndrome (disorder) | 4 | |
C4025603 | Glutaric acidemia | 4 | |
C4280645 | Hypertrophy of lower jaw | 78 | |
C4280644 | Increased size of mandible | 78 | |
C4280647 | Hypertrophy of cheeks | 50 | |
C4280641 | Hypotrophic maxilla | 66 | |
C4280640 | Retrusion of upper jaw bones | 66 | |
C4280643 | Decreased projection of maxilla | 66 | |
C4280642 | Deficiency of upper jaw bones | 66 | |
C4280648 | Hyperplasia of cheeks | 50 | |
C0576225 | Long foot | 8 | |
C0032326 | Pneumothorax | 7 | |
C0018273 | Growth Disorders | 32 | |
C0014553 | Absence Epilepsy | 22 | |
C0014550 | Epilepsies, Myoclonic | 30 | |
C0014556 | Epilepsy, Temporal Lobe | 22 | |
C0002940 | Aneurysm | 7 | |
C4025760 | Primary hypercorticolism | 4 | |
C0853697 | Neutrophil count decreased | 45 | |
C1456784 | Paranoia | 19 | |
C1859541 | Variable degree of villous atrophy | 16 | |
C4021654 | Precocious atherosclerosis | 4 | |
C4021657 | Abnormality of bone mineral density | 5 | |
C4021656 | Abnormality of fatty-acid metabolism | 6 | |
C0018418 | Gynecomastia | 56 | |
C0032580 | Adenomatous Polyposis Coli | 14 | |
C4021038 | Abnormal circulating renin | 4 | |
C1847868 | Generalized aminoaciduria | 9 | |
C0342257 | Complications of Diabetes Mellitus | 5 | |
C1263023 | Macroorchidism | 7 | |
C1855311 | Megacystis | 4 | |
C3554724 | Digitalization of thumbs | 6 | |
C0241005 | Creatine phosphokinase serum increased | 103 | |
C1848673 | Hypoplastic feet | 67 | |
C1865186 | Bell-shaped thorax | 10 | |
C0158761 | Radioulnar Synostosis | 24 | |
C0009714 | Hepatic Fibrosis, Congenital | 9 | |
C1864853 | Increased vertebral height | 4 | |
C0268362 | Osteogenesis imperfecta type III (disorder) | 11 | |
C0268363 | Osteogenesis imperfecta type IV (disorder) | 10 | |
C2936907 | NADH:Q(1) Oxidoreductase deficiency | 21 | |
C0344482 | Hypoplasia of corpus callosum | 90 | |
C0023290 | Leishmaniasis, Visceral | 13 | |
C0393706 | Early infantile epileptic encephalopathy with suppression bursts | 10 | |
C1835995 | Decreased activities of mitochondrial-encoded respiratory chain complexes | 5 | |
C0235153 | Hallucinations, Sensory | 26 | |
C1864580 | Type 2 fiber atrophy | 8 | |
C1862862 | Patchy alopecia | 5 | |
C1862863 | Sparse body hair | 32 | |
C0431380 | Cortical Dysplasia | 13 | |
C0431384 | Colpocephaly | 4 | |
C1842870 | Chromosome 1p36 Deletion Syndrome | 5 | |
C1856661 | Cloudy cornea | 33 | |
C1856660 | Abnormal helices | 11 | |
C0268583 | Methylmalonic acidemia | 16 | |
C1857640 | Decreased nerve conduction velocity | 28 | |
C1857641 | Severe postnatal growth retardation | 16 | |
C1857644 | Salt and pepper retinal pigmentation | 7 | |
C0266631 | Accessory spleen | 7 | |
C0014850 | Esophageal Atresia | 24 | |
C0751495 | Seizures, Focal | 14 | |
C1853767 | Decreased distal vibration sense | 4 | |
C1846423 | Thick upper lip vermilion | 4 | |
C0000768 | Congenital Abnormality | 11 | |
C0262630 | Reduced concentration span | 9 | |
C1853638 | Broad neck | 4 | |
C4082168 | Partial duplication of thumb phalanx | 6 | |
C4082169 | Metatarsus Varus | 24 | |
C1849295 | Hypoplastic labia minora | 11 | |
C1843637 | Neck flexor weakness | 6 | |
C2931038 | Pancreatic carcinoma, familial | 8 | |
C4025838 | Abnormality of the pharynx | 19 | |
C4025830 | Peripheral axonal degeneration | 4 | |
C4025836 | Abnormality of the choroid | 7 | |
C0030569 | Secondary Parkinson Disease | 7 | |
C0021296 | Infant, Small for Gestational Age | 176 | |
C4280582 | Agenesis of eyebrows | 13 | |
C4280580 | Blonde eyebrow | 5 | |
C4280581 | Aplasia of eyebrows | 13 | |
C4280586 | Curvature of the little toe | 6 | |
C1867743 | Coronary artery disease, premature | 6 | |
C1280433 | Lipoatrophy | 19 | |
C1863051 | ALZHEIMER DISEASE 2 | 5 | |
C0022408 | Arthropathy | 15 | |
C0024115 | Lung diseases | 50 | |
C0024117 | Chronic Obstructive Airway Disease | 37 | |
C0002726 | Amyloidosis | 9 | |
C0574769 | Loss of scalp hair | 5 | |
C4280368 | Hypotrophic cheekbone | 22 | |
C4280369 | Flattening of the zygomatic bone | 22 | |
C0687149 | Pure gonadal dysgenesis | 19 | |
C0241397 | Triphalangeal thumb | 9 | |
C4280363 | Drooping upper lip | 4 | |
C1859974 | GLUCOCORTICOID DEFICIENCY 1 | 5 | |
C1853932 | Rimmed vacuoles on biopsy | 15 | |
C1306122 | Oguchi disease | 9 | |
C0162557 | Liver Failure, Acute | 29 | |
C1833752 | Varying degree of multiple fractures | 53 | |
C1836508 | Hypertonic seizures | 8 | |
C1836509 | Hypotonic seizures | 11 | |
C0030436 | Parakeratosis | 7 | |
C0013491 | Ecchymosis | 66 | |
C0342881 | Familial hypercholesterolemia - homozygous | 4 | |
C1837458 | Impaired smooth pursuit | 13 | |
C0349702 | Corneal Scar | 7 | |
C1865841 | Flared iliac wings | 13 | |
C1865847 | Ulnar bowing | 10 | |
C1860834 | Infantile muscular hypotonia | 12 | |
C1860838 | Large prominent ears | 87 | |
C0271007 | Phthisis bulbi | 5 | |
C1847759 | MUSCULAR DYSTROPHY, CONGENITAL, 1C | 8 | |
C0027626 | Neoplasm Invasiveness | 136 | |
C0027627 | Neoplasm Metastasis | 148 | |
C1862095 | Bilateral single transverse palmar creases | 34 | |
C0240278 | Lymphatic obstruction | 21 | |
C0032463 | Polycythemia Vera | 6 | |
C0032461 | Polycythemia | 12 | |
C3806221 | Giant melanosomes in melanocytes | 4 | |
C3495801 | Granulomatosis with polyangiitis | 5 | |
C0025990 | Micrognathism | 276 | |
C0025995 | Micromelia | 58 | |
C0151491 | Congenital musculoskeletal anomalies | 5 | |
C0040147 | Thyroiditis | 4 | |
C0264112 | Wedging of vertebra | 9 | |
C0018818 | Ventricular Septal Defects | 119 | |
C0221765 | Chronic schizophrenia | 12 | |
C0151639 | Decreased fertility in females | 20 | |
C0265535 | Trigonocephaly | 10 | |
C0151632 | ESR raised | 20 | |
C0241775 | Organic aciduria | 6 | |
C0151636 | Premature ventricular contractions | 6 | |
C0375206 | Hemiplegia and hemiparesis | 38 | |
C3279191 | Arterial tortuosity | 5 | |
C1855781 | Lack of delayed skin hypersensitivity reaction | 5 | |
C0016978 | gallbladder neoplasm | 10 | |
C3489396 | Hypogonadism, Isolated Hypogonadotropic | 72 | |
C3489393 | Hiatal Hernia | 7 | |
C1806780 | Cerebrospinal fluid protein increased above normal | 14 | |
C0018816 | Heart Septal Defects | 24 | |
C0795690 | Congenital omphalocele | 20 | |
C0399372 | Amelogenesis Imperfecta hypomaturation type | 7 | |
C0080178 | Spina Bifida | 19 | |
C0080174 | Spina Bifida Occulta | 12 | |
C1856786 | Hypoplastic fingernails | 11 | |
C0744641 | Intermittent migraine headaches | 61 | |
C1852150 | Fingerprints, Absence of | 4 | |
C0016202 | Flatfoot | 72 | |
C0542519 | Congenital absence of kidney | 31 | |
C1691215 | Penile hypospadias | 106 | |
C1261473 | Sarcoma | 24 | |
C0029131 | Optic nerve abnormalities | 5 | |
C0235942 | Skull malformation | 38 | |
C0235946 | Cerebral atrophy | 171 | |
C0271092 | Progressive cone dystrophy (without rod involvement) | 4 | |
C0266371 | Streak ovary | 15 | |
C2676676 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | 13 | |
C1846433 | Prominent sternum | 4 | |
C4229090 | Small facial bones | 4 | |
C0338591 | Amnesia, Transient Global | 9 | |
C1860243 | Sternal ossification center abnormalities | 5 | |
C1860244 | Malrotation of small bowel | 6 | |
C2678065 | Myofibrillar Myopathy | 6 | |
C1860247 | Prominent glabella | 7 | |
C0041956 | Ureteral obstruction | 6 | |
C4025662 | Abnormality of the ulna | 10 | |
C4025663 | Abnormality of the tibia | 9 | |
C4025669 | Decreased circulating ACTH level | 12 | |
C1858969 | Defective lymphocyte apoptosis | 4 | |
C0751688 | Malignant Squamous Cell Neoplasm | 17 | |
C1860796 | Shallow acetabulum | 5 | |
C1842714 | Desquamation of skin soon after birth | 10 | |
C0008372 | Intrahepatic Cholestasis | 13 | |
C0008370 | Cholestasis | 70 | |
C1860245 | Cranial asymmetry | 5 | |
C3501843 | Nonmedullary Thyroid Carcinoma | 10 | |
C0018784 | Sensorineural Hearing Loss (disorder) | 276 | |
C0018781 | Noise-induced hearing loss | 5 | |
C0549448 | Hemoglobin increased | 6 | |
C1844383 | Recurrent bacterial infection | 40 | |
C1858266 | Bare Lymphocyte Syndrome, Type I | 4 | |
C1844384 | Recurrent fungal infections | 13 | |
C4020848 | Aneurysmal disease | 6 | |
C0040336 | Tobacco Use Disorder | 11 | |
C0264611 | Apraxia of Phonation | 5 | |
C1836195 | Hypoplastic toes | 30 | |
C1836192 | Aplasia/Hypoplasia involving the metacarpal bones | 5 | |
C4021630 | Broad long bones | 5 | |
C0398639 | Amegakaryocytic thrombocytopenia | 6 | |
C0042798 | Low Vision | 174 | |
C2712334 | Actual Aspiration | 8 | |
C0028077 | Night Blindness | 86 | |
C4020908 | Hypointensity of cerebral white matter on MRI | 5 | |
C1260926 | Abnormal pigmentation | 25 | |
C0347959 | Lactic acidemia | 86 | |
C1836996 | Marfanoid body habitus | 11 | |
C1848736 | Distal amyotrophy | 51 | |
C0003862 | Arthralgia | 90 | |
C0003864 | Arthritis | 51 | |
C0003868 | Arthritis, Gouty | 8 | |
C1855665 | Ovoid vertebral bodies | 17 | |
C1855669 | Absent frontal sinuses | 8 | |
C0016781 | Fuchs Endothelial Dystrophy | 5 | |
C1850161 | Widened metatarsal shaft | 5 | |
C0018923 | Hemangiosarcoma | 18 | |
C0018920 | Hemangioma, Cavernous | 20 | |
C1848654 | Broad ribs | 12 | |
C0018924 | Hemarthrosis | 11 | |
C0409345 | Flexion contracture - wrist | 6 | |
C4023909 | Aplasia/Hypoplasia of the abdominal wall musculature | 17 | |
C1851789 | Poor wound healing | 7 | |
C0151825 | Bone pain | 42 | |
C0013264 | Muscular Dystrophy, Duchenne | 7 | |
C1862132 | Short ulnae | 24 | |
C0013261 | Duane Retraction Syndrome | 6 | |
C0030524 | Paratuberculosis | 5 | |
C4072822 | Wide bregma sutures | 46 | |
C4072823 | Broad cranium shape | 88 | |
C4072820 | Large bregma sutures | 46 | |
C4072821 | Large, late-closing fontanelle | 46 | |
C4072826 | Skin tag on the posterior cheek | 19 | |
C4072827 | Cone/cone-rod dystrophy | 20 | |
C4072824 | Wide skull shape | 88 | |
C4072825 | Thickened facial skin with coarse facial features | 108 | |
C0749420 | Thyroid Agenesis | 5 | |
C1865304 | Overfolding of the superior helices | 4 | |
C1865305 | Hypoplastic superior helix | 4 | |
C0409348 | Flexion contracture of proximal interphalangeal joint | 75 | |
C0342276 | Maturity onset diabetes mellitus in young | 11 | |
C0342273 | Transient neonatal diabetes mellitus | 4 | |
C3551535 | Mitral regurgitation, mild | 32 | |
C0549613 | BILIARY TRACT ABNORMALITY | 16 | |
C0242422 | Parkinsonian Disorders | 56 | |
C0085615 | Right bundle branch block | 5 | |
C0085614 | First degree atrioventricular block | 5 | |
C0085612 | Ventricular arrhythmia | 11 | |
C0085610 | Sinus bradycardia | 4 | |
C0020452 | Hyperemia | 13 | |
C0020455 | Hypergammaglobulinemia | 10 | |
C0020456 | Hyperglycemia | 33 | |
C0039103 | Synovitis | 7 | |
C0020458 | Hyperhidrosis disorder | 81 | |
C0020459 | Hyperinsulinism | 85 | |
C0376618 | Endotoxemia | 8 | |
C0266610 | Preauricular dimple | 27 | |
C0240735 | Personality change | 23 | |
C0266617 | Congenital anomaly of face | 57 | |
C1849923 | Generalized hypopigmentation | 13 | |
C1843921 | Postural instability | 19 | |
C1846154 | Anterior rib cupping | 6 | |
C0267566 | Perirectal abscess | 5 | |
C1843386 | Reduced delayed hypersensitivity | 4 | |
C1857171 | Hyperhidrosis, episodic | 4 | |
C0242647 | Mucosa-Associated Lymphoid Tissue Lymphoma | 4 | |
C2219717 | menstrual periods stopped for over 6 months | 13 | |
C4023338 | Profound sensorineural hearing impairment | 4 | |
C0149516 | Chronic sinusitis | 9 | |
C4025858 | Abnormality of cochlea | 6 | |
C1408258 | Kidney damage | 25 | |
C2362914 | clinical depression | 6 | |
C0021400 | Influenza | 51 | |
C0677866 | Brain Stem Neoplasms | 4 | |
C4280560 | Increased thickness of cranium | 17 | |
C4280564 | Cloverleaf cranium shape | 6 | |
C4280565 | Delayed maturation of end part of long bone | 10 | |
C4280566 | Abnormal development of end part of bone | 14 | |
C4280567 | Abnormal skeletal development | 60 | |
C4280568 | Hardened artery wall | 6 | |
C4280569 | Plaque build-up in arteries | 5 | |
C0026267 | Mitral Valve Prolapse Syndrome | 39 | |
C0026266 | Mitral Valve Insufficiency | 33 | |
C0311394 | Difficulty walking | 28 | |
C3279571 | Ectopic posterior pituitary | 6 | |
C0424296 | Social disinhibition | 14 | |
C0424295 | Hyperactive behavior | 91 | |
C1832338 | Axonal loss | 7 | |
C0015526 | Factor XII Deficiency | 5 | |
C0560346 | Difficulty running | 7 | |
C4280304 | Curvature of digit | 58 | |
C1838869 | Proximal neurogenic muscle weakness | 47 | |
C4025272 | Peripheral arterial stenosis | 4 | |
C0334166 | Pseudoainhum | 4 | |
C0022680 | Polycystic Kidney Diseases | 20 | |
C3266101 | 22q11 partial monosomy syndrome | 9 | |
C0038220 | Status Epilepticus | 83 | |
C1860475 | Tortuous retinal vessels | 5 | |
C0023212 | Left-Sided Heart Failure | 16 | |
C1836527 | Distal sensory impairment of all modalities | 7 | |
C0014072 | Experimental Autoimmune Encephalomyelitis | 7 | |
C1836038 | Poor head control | 14 | |
C1866141 | Foot dorsiflexor weakness | 27 | |
C0043325 | Xanthomatosis | 7 | |
C4020730 | Increased intramyocellular lipid droplets | 13 | |
C4020734 | Nystagmus, continuous pendular | 14 | |
C3150613 | Long toes | 5 | |
C0033860 | Psoriasis | 56 | |
C1841659 | Atrioventricular nodal disease | 10 | |
C0238621 | Aminoaciduria | 38 | |
C0267456 | Villous atrophy of intestine | 16 | |
C1842581 | Abnormal corpus callosum | 4 | |
C0234860 | Weak cry | 17 | |
C0002878 | Anemia, Hemolytic | 56 | |
C0002871 | Anemia | 151 | |
C0002876 | Congenital dyserythropoietic anemia | 5 | |
C1840382 | Ureteral anomalies | 5 | |
C0002874 | Aplastic Anemia | 11 | |
C1840380 | Persistent cavum septum pellucidum | 10 | |
C0234533 | Generalized seizures | 9 | |
C0028797 | Occupational Diseases | 12 | |
C0028796 | Dermatitis, Occupational | 4 | |
C0264133 | Acquired flat foot | 72 | |
C0264423 | Asthma, Occupational | 7 | |
C1969073 | Hyperchloremic metabolic acidosis | 5 | |
C0151611 | Electroencephalogram abnormal | 102 | |
C0271683 | Polyneuropathy, Motor | 4 | |
C0017574 | Gingivitis | 11 | |
C1864156 | Conjunctivitis, recurrent | 36 | |
C4022675 | Increased female libido | 13 | |
C0494475 | Tonic - clonic seizures | 36 | |
C0600427 | Cocaine Dependence | 43 | |
C1859698 | Contractures of the large joints | 5 | |
C0018780 | Hearing Loss, High-Frequency | 4 | |
C0399352 | Developmental absence of tooth | 7 | |
C1855853 | Impaired platelet aggregation | 8 | |
C1855852 | Large eyes | 9 | |
C0007370 | Catalepsy | 15 | |
C0265554 | Ectrodactyly | 7 | |
C0265552 | Congenital macrodactylia | 4 | |
C0010346 | Crohn Disease | 43 | |
C1386048 | Intrauterine retardation | 176 | |
C1845272 | Prominent antihelix | 5 | |
C0854107 | Haemorrhage subcutaneous | 10 | |
C4023101 | Elevated luteinizing hormone | 14 | |
C4023106 | Obstructive azoospermia | 5 | |
C0266399 | Infantile uterus | 23 | |
C0154936 | Pupillary abnormality | 4 | |
C4024598 | Anterior open-bite malocclusion | 4 | |
C0041974 | Urethral Stricture | 14 | |
C0027819 | Neuroblastoma | 47 | |
C1305740 | Overbite | 4 | |
C2700265 | Waardenburg Syndrome Type 2 | 4 | |
C2930812 | Generalized elastolysis | 24 | |
C1970883 | Peripheral sensory axonal neuropathy | 7 | |
C0748540 | Scleroderma, Limited | 6 | |
C0221253 | Xanthoma tendinosum | 4 | |
C0008350 | Cholelithiasis | 20 | |
C0277828 | Late fontanel closure | 28 | |
C1849489 | Increased serum alanine | 9 | |
C1849488 | Increased serum pyruvate | 9 | |
C4025640 | Deficient excision of UV-induced pyrimidine dimers in DNA | 4 | |
C4025644 | Hypothalamic gonadotropin-releasing hormone deficiency | 14 | |
C1836193 | Synostosis of carpal bones | 9 | |
C4020690 | Abnormality of peripheral nerve conduction | 4 | |
C1867955 | Increased incidence of hepatocellular carcinoma | 26 | |
C4021343 | Broad hallux phalanx | 8 | |
C4072885 | Increased serum testosterone level | 4 | |
C1390474 | Increased susceptibility to fractures | 21 | |
C0752351 | Embryo Loss | 7 | |
C4020966 | Abnormal vertebral ossification | 5 | |
C4020960 | Abnormality of nail color | 5 | |
C4020962 | Enlarged thorax | 18 | |
C4020969 | Inflammatory abnormality of the eye | 10 | |
C0013069 | Double Outlet Right Ventricle | 9 | |
C1858091 | Long fingers | 9 | |
C1096367 | Increased mean platelet volume | 6 | |
C1184923 | Lumbar lordosis | 35 | |
C0009024 | Clonus | 11 | |
C4073137 | Low serum testosterone levels | 4 | |
C0016506 | Foot Deformities | 30 | |
C2749582 | Dumbbell-shaped long bones | 4 | |
C1850830 | Exercise-induced myalgia | 8 | |
C0520459 | Necrotizing Enterocolitis | 17 | |
C0016508 | Congenital Foot Deformity | 4 | |
C0085584 | Encephalopathies | 36 | |
C0085583 | Choreoathetosis | 32 | |
C0085581 | Restrictive lung disease | 11 | |
C0085580 | Essential Hypertension | 13 | |
C3160814 | Cannabis use | 6 | |
C0023787 | Lipodystrophy | 17 | |
C0085636 | Photophobia | 122 | |
C0085631 | Agitation | 16 | |
C0085633 | Mood swings | 77 | |
C0085632 | Apathy | 16 | |
C1835157 | Partial to total absence of eyelashes | 7 | |
C0524851 | Neurodegenerative Disorders | 79 | |
C0149925 | Small cell carcinoma of lung | 42 | |
C0376634 | Craniofacial Abnormalities | 149 | |
C0020476 | Hyperlipoproteinemias | 5 | |
C0020473 | Hyperlipidemia | 34 | |
C3463824 | MYELODYSPLASTIC SYNDROME | 35 | |
C0694563 | Excessive daytime somnolence | 14 | |
C0850703 | Frequent falls | 12 | |
C1449861 | Micronuclei, Chromosome-Defective | 20 | |
C1846176 | Hyperactive deep tendon reflexes | 4 | |
C4024692 | Reduced factor XIII activity | 5 | |
C3887898 | Infantile Spasm | 4 | |
C3150077 | Short stature, mild | 13 | |
C0011573 | Endogenous depression | 5 | |
C0011570 | Mental Depression | 256 | |
C0154723 | Migraine with Aura | 4 | |
C0040961 | Tricuspid Valve Insufficiency | 4 | |
C0427546 | Atypical lymphocyte observed | 10 | |
C0750857 | Alkaline phosphatase serum increased | 29 | |
C1852504 | Misalignment of teeth | 8 | |
C4025871 | Abnormality of the face | 10 | |
C0566888 | Narrow sacrosciatic notch | 6 | |
C1837028 | Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive | 5 | |
C0026205 | Miosis disorder | 6 | |
C4280548 | Hypotrophic frontal sinus | 6 | |
C4280549 | Decreased pneumatization of frontal sinus | 6 | |
C0001818 | Agoraphobia | 4 | |
C0162770 | Right Ventricular Hypertrophy | 6 | |
C1846288 | Recurrent hypoglycemia | 4 | |
C0239803 | Red hair | 6 | |
C0239801 | Blonde hair | 7 | |
C0239804 | White hair | 7 | |
C4025250 | Abnormality of the sacrum | 5 | |
C4025252 | Abnormal nasal morphology | 16 | |
C0019337 | Heroin Dependence | 9 | |
C1860450 | Calcaneovalgus deformity | 8 | |
C0744333 | Gastrointestinal polyps | 5 | |
C1866129 | Cerebellar abnormalities | 4 | |
C0549399 | Low density lipoprotein increased | 8 | |
C4020759 | Pointed incisor | 6 | |
C1849340 | Long palpebral fissure | 17 | |
C1849341 | Triangular mouth | 6 | |
C4280320 | Hypotrophic midface | 105 | |
C4280321 | Decreased projection of midface | 105 | |
C0025202 | melanoma | 214 | |
C0038868 | Progressive supranuclear palsy | 4 | |
C4048798 | Night blindness, congenital stationary, complete | 9 | |
C0033805 | Pseudohypoaldosteronism | 10 | |
C0521525 | Short neck | 141 | |
C2362324 | Pediatric Obesity | 4 | |
C0162809 | Kallmann Syndrome | 20 | |
C0018926 | Hematemesis | 4 | |
C0002893 | Refractory anemias | 6 | |
C0002895 | Anemia, Sickle Cell | 8 | |
C0002896 | Sideroblastic anemia | 12 | |
C0266061 | Open Bite | 21 | |
C1836014 | Exaggerated acoustic startle response | 8 | |
C1836543 | Thick vermilion border | 25 | |
C1306710 | Facial asymmetry | 32 | |
C1837761 | Narrow nasal ridge | 6 | |
C1837760 | Prominent eyes | 96 | |
C1837767 | Loss of facial adipose tissue | 4 | |
C0268731 | Renal glomerular disease | 12 | |
C1837764 | Loss of subcutaneous adipose tissue in limbs | 6 | |
C0855740 | Abnormal platelet function | 12 | |
C0855742 | Platelet morphology abnormal | 9 | |
C4024996 | Aplasia/Hypoplasia of the lungs | 13 | |
C0040100 | Thymoma | 5 | |
C0855791 | Mean cell volume increased | 5 | |
C1457883 | Aggressive reaction | 75 | |
C4021152 | Abnormal CNS myelination | 4 | |
C4025571 | Type 1 fibers relatively smaller than type 2 fibers | 5 | |
C0042035 | Urination Disorders | 4 | |
C0266539 | Congenital total cataract | 15 | |
C3277059 | Congenital Bilateral Cataracts | 43 | |
C1832386 | Diabetes Mellitus, Transient Neonatal, 1 | 4 | |
C0026838 | Muscle Spasticity | 194 | |
C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | 5 | |
C0241181 | Fragile skin | 18 | |
C1856432 | Dicarboxylic aciduria | 4 | |
C1856438 | Hypoketotic hypoglycemia | 11 | |
C1856439 | GLAUCOMA 3, PRIMARY CONGENITAL, A | 4 | |
C1855520 | Hyperglycemia, Postprandial | 8 | |
C4072987 | Yellow/white lesions of the macula | 5 | |
C4072980 | Exudative vitreoretinopathy | 4 | |
C0878773 | Overactive Bladder | 4 | |
C3671887 | Sodium concentration in urine above normal | 6 | |
C0029172 | Oral Submucous Fibrosis | 16 | |
C0149940 | Sciatic Neuropathy | 4 | |
C0017566 | Gingival Hyperplasia | 33 | |
C1862697 | Metatarsal synostosis | 4 | |
C1866210 | Highly variable phenotype, even within families | 151 | |
C1843885 | Progressive gait ataxia | 4 | |
C4024867 | Perifollicular hyperkeratosis | 4 | |
C0744356 | genital abnormal | 17 | |
C1853242 | Midface retrusion | 105 | |
C1853241 | Flat face | 52 | |
C1853246 | Everted lower lip vermilion | 54 | |
C1846345 | Hyperactive renin-angiotensin system | 8 | |
C1846347 | Renal salt wasting | 18 | |
C1849134 | Decreased lower limb vibratory sense | 13 | |
C1846348 | Renal potassium wasting | 5 | |
C1835452 | Hypoplastic ovary | 30 | |
C2677328 | Brain hypomyelination | 11 | |
C1319853 | Asthma, Aspirin-Induced | 13 | |
C0019294 | Hernia, Inguinal | 89 | |
C0728895 | Absent finger | 4 | |
C0018213 | Graves Disease | 11 | |
C0262655 | Recurrent urinary tract infection | 24 | |
C4274354 | Severe early childhood onset retinal dystrophy | 4 | |
C4274355 | Autosomal dominant late onset Parkinson disease | 7 | |
C0271215 | Blindness, Legal | 109 | |
C1859520 | Progressive spasticity | 6 | |
C1859523 | Contracture of lower limb | 6 | |
C1842820 | Cardiac conduction abnormalities | 69 | |
C4042891 | Sleep Wake Disorders | 6 | |
C0522198 | Explosive speech | 9 | |
C0334082 | NEVUS, EPIDERMAL (disorder) | 5 | |
C0747651 | Recurrent aspiration pneumonia | 4 | |
C1850293 | Severe platyspondyly | 5 | |
C0522224 | Paralysed | 42 | |
C1859461 | Femoral bowing | 20 | |
C0553982 | Impaired left ventricular function | 16 | |
C0553980 | Endomyocardial Fibrosis | 10 | |
C0263523 | Micronychia (disorder) | 24 | |
C4255213 | Increased size of skull | 147 | |
C0554103 | Intestinal malabsorption of fat | 5 | |
C2675334 | Restrictive behavior, interests, and activities | 8 | |
C0878544 | Cardiomyopathies | 109 | |
C0018965 | Hematuria | 35 | |
C0265961 | Erythrokeratodermia variabilis | 4 | |
C0265965 | Dyskeratosis Congenita | 11 | |
C0424810 | Periorbital swelling | 13 | |
C0022660 | Kidney Failure, Acute | 4 | |
C0027766 | Nervous System Neoplasms | 8 | |
C0206637 | Chondrosarcoma, Mesenchymal | 5 | |
C0206630 | Endometrial Stromal Sarcoma | 5 | |
C0022665 | Kidney Neoplasm | 28 | |
C4023801 | Fibular bowing | 5 | |
C3887524 | Skin Erosion | 12 | |
C3887527 | Fused cervical vertebrae | 5 | |
C1858732 | Prominent midface | 4 | |
C1865916 | Bilateral ptosis | 9 | |
C0268079 | Hyperphosphaturia | 21 | |
C0265294 | Pyle metaphyseal dysplasia | 8 | |
C0265290 | Metaphyseal chondrodysplasia | 7 | |
C1864696 | Distal limb muscle weakness due to peripheral neuropathy | 62 | |
C0016522 | Foramen Ovale, Patent | 10 | |
C0007124 | Noninfiltrating Intraductal Carcinoma | 5 | |
C1835686 | Recurrent bacterial skin infections | 8 | |
C1846474 | Thenar hypoplasia | 4 | |
C0039101 | synovial sarcoma | 5 | |
C0027339 | Nail Diseases | 24 | |
C0037926 | Compression of spinal cord | 10 | |
C0037921 | Spinal ataxia | 5 | |
C0558845 | Reflex, Ankle, Absent | 8 | |
C1857002 | Capitate-hamate fusion | 5 | |
C0030044 | Acrocephaly | 12 | |
C1276035 | Pena-Shokeir syndrome type I | 12 | |
C0024314 | Lymphoproliferative Disorders | 5 | |
C0595939 | Stillbirth | 17 | |
C0745744 | End Stage Liver Disease | 4 | |
C0241423 | Atrophy of tongue | 4 | |
C1281931 | Obstruction of nasolacrimal duct | 9 | |
C1854928 | Protuberant abdomen | 15 | |
C0010606 | Adenoid Cystic Carcinoma | 99 | |
C0266619 | Potter's facies | 10 | |
C0008525 | Choroideremia | 6 | |
C0233715 | Speech impairment | 113 | |
C1843697 | Axial muscle weakness | 6 | |
C0240182 | Leukonychia | 6 | |
C0522055 | Electrocardiogram abnormal | 72 | |
C0282612 | Prostatic Intraepithelial Neoplasias | 11 | |
C0541985 | Globulin gamma serum plasma increased result | 9 | |
C0008780 | Ciliary Motility Disorders | 38 | |
C0751706 | Primary Progressive Nonfluent Aphasia | 7 | |
C4280528 | Thick skull bones | 7 | |
C4280520 | Enlargement of calvarial bones | 5 | |
C4048801 | Scalp defect | 5 | |
C4020777 | Underdeveloped brows | 38 | |
C4020772 | Hypoplastic palate | 4 | |
C1849367 | Nasal bridge wide | 237 | |
C1849364 | Absent earlobe | 9 | |
C1846803 | Small epiphyses | 9 | |
C0025267 | Multiple Endocrine Neoplasia Type 1 | 5 | |
C0687120 | Nephronophthisis | 18 | |
C1333990 | Hereditary Nonpolyposis Colorectal Cancer | 11 | |
C0027686 | Pathologic Neovascularization | 6 | |
C0013386 | Dyskinesia, Drug-Induced | 15 | |
C0013384 | Dyskinetic syndrome | 16 | |
C1858120 | Generalized hypotonia | 38 | |
C1858127 | Limb-girdle muscle weakness | 12 | |
C0426886 | Tapering fingers (finding) | 25 | |
C0015923 | Fetal Alcohol Syndrome | 15 | |
C0238669 | Aortic root dilatation | 11 | |
C0238198 | Gastrointestinal Stromal Tumors | 7 | |
C0014038 | Encephalitis | 11 | |
C0018553 | Hamartoma Syndrome, Multiple | 10 | |
C0017601 | Glaucoma | 120 | |
C0017605 | Angle Closure Glaucoma | 7 | |
C0040128 | Thyroid Diseases | 24 | |
C0028756 | Obesity, Morbid | 4 | |
C0028754 | Obesity | 266 | |
C0264172 | Barrel chest | 12 | |
C0278184 | Scanning speech | 9 | |
C0685787 | Cleft face | 6 | |
C1855728 | Low posterior hairline | 52 | |
C0026760 | Multiple Epiphyseal Dysplasia | 6 | |
C0026764 | Multiple Myeloma | 31 | |
C0026766 | Multiple Organ Failure | 7 | |
C0026769 | Multiple Sclerosis | 38 | |
C0600467 | Neurogenic Inflammation | 12 | |
C0031117 | Peripheral Neuropathy | 123 | |
C1851402 | Exudative vitreoretinopathy 1 | 5 | |
C1522137 | Hypertriglyceridemia result | 37 | |
C0917805 | Transient Cerebral Ischemia | 12 | |
C0917801 | Sleeplessness | 16 | |
C1855895 | Erlenmeyer flask femora | 4 | |
C1834433 | Obsessive-compulsive trait | 4 | |
C0597167 | Islets of Langerhans hyperplasia | 11 | |
C1298695 | Hypoplasia of optic disc | 11 | |
C1298692 | Cleft lip and alveolus | 4 | |
C0234632 | Reduced visual acuity | 62 | |
C1167712 | Corneal diameter increased | 13 | |
C1167713 | Corneal diameter decreased | 47 | |
C1968852 | ACTH-independent hypercortisolemia | 4 | |
C0231712 | Waddling gait | 34 | |
C1720189 | Episodic Ataxia | 8 | |
C1856019 | Abnormal cortical gyration | 5 | |
C1843865 | Vestibular dysfunction | 7 | |
C0542476 | Forgetful | 33 | |
C3665358 | Galactorrhea | 5 | |
C0020626 | Hypoparathyroidism | 17 | |
C0020625 | Hyponatremia | 24 | |
C0020621 | Hypokalemia | 33 | |
C0020620 | Hypohidrosis | 25 | |
C1835473 | Diaphyseal thickening | 11 | |
C0221217 | Neck webbing | 35 | |
C0221210 | Congenital malrotation of intestine | 16 | |
C0022548 | Keloid | 36 | |
C1859896 | Progressive macrocephaly | 18 | |
C0743359 | ear infection chronic | 51 | |
C0007302 | Cartilage Diseases | 5 | |
C0678807 | prenatal alcohol exposure | 5 | |
C1970263 | Increased susceptibility to Neisseria meningitidis infections | 4 | |
C1854718 | J-shaped sella turcica | 6 | |
C0004763 | Barrett Esophagus | 15 | |
C1833667 | Increased serum bone-specific alkaline phosphatase | 4 | |
C0239105 | Conjunctival telangiectasis | 14 | |
C0022906 | Lacrimal Duct Obstruction | 9 | |
C0027809 | Neurilemmoma | 7 | |
C0008311 | Cholangitis | 10 | |
C0008313 | Cholangitis, Sclerosing | 5 | |
C0008312 | Primary biliary cirrhosis | 15 | |
C0746102 | Chronic lung disease | 6 | |
C4020871 | Dystonic disease | 97 | |
C0454644 | Delayed speech and language development | 113 | |
C1837514 | Phenotypic variability | 151 | |
C0263505 | Alopecia universalis | 4 | |
C0026269 | Mitral Valve Stenosis | 5 | |
C0265908 | Congenital atresia of pulmonary artery | 5 | |
C0041408 | Turner Syndrome | 5 | |
C0027746 | Nerve Degeneration | 120 | |
C1862152 | Short to absent middle phalanges | 5 | |
C0206655 | Alveolar rhabdomyosarcoma | 4 | |
C0206656 | Rhabdomyosarcoma, Embryonal | 5 | |
C4024606 | Loss of gluteal subcutaneous adipose tissue | 4 | |
C0085541 | Epilepsy, Frontal Lobe | 4 | |
C0085548 | Autosomal Recessive Polycystic Kidney Disease | 8 | |
C1858719 | Facial muscle weakness of muscles innervated by CN VII | 58 | |
C1851714 | Sclerosis of skull base | 5 | |
C0220669 | Familial benign neonatal epilepsy | 5 | |
C0009681 | Anomalous pulmonary artery | 4 | |
C0242339 | Dyslipidemias | 27 | |
C0035235 | Respiratory Syncytial Virus Infections | 4 | |
C0035232 | Respiratory Paralysis | 7 | |
C0020433 | Hyperbilirubinemia | 4 | |
C0020437 | Hypercalcemia | 36 | |
C3665386 | Abnormal vision | 43 | |
C0020438 | Hypercalciuria | 27 | |
C0392525 | Nephrolithiasis | 31 | |
C4022159 | Muscle fiber inclusion bodies | 4 | |
C1835807 | Prominent fingertip pads | 6 | |
C1835801 | Eversion of lateral third of lower eyelids | 4 | |
C0278124 | Absent tendon reflex | 93 | |
C0040433 | Tooth Crowding | 45 | |
C0270458 | Severe major depression with psychotic features | 7 | |
C3551426 | Dystrophic fingernails | 18 | |
C1968999 | Rib segmentation abnormalities | 8 | |
C1855020 | Acute necrotizing encephalopathy | 14 | |
C0546969 | Preauricular Fistulae, Congenital | 27 | |
C0020295 | Hydronephrosis | 69 | |
C0546967 | Posterior embryotoxon | 28 | |
C0546966 | Monilethrix | 4 | |
C0546964 | Genu recurvatum | 12 | |
C0034013 | Precocious Puberty | 27 | |
C0424290 | Compulsive hoarding | 7 | |
C1857539 | Deep palmar crease | 8 | |
C2674738 | Toe abnormalities | 4 | |
C0023520 | Leukodystrophy | 32 | |
C0241442 | Protrusion of tongue | 11 | |
C0007102 | Malignant tumor of colon | 16 | |
C0004153 | Atherosclerosis | 58 | |
C1845447 | Cupped ears (finding) | 17 | |
C1845112 | Hyperkyphosis | 112 | |
C0004158 | Athetosis | 16 | |
C0920163 | Idiopathic thrombocytopenia | 22 | |
C1832603 | EKG abnormalities | 69 | |
C0424585 | Tires quickly | 18 | |
C0027962 | Melanocytic nevus | 43 | |
C0042384 | Vasculitis | 23 | |
C4025749 | Abnormality of the spleen | 13 | |
C0239842 | Tremor of hands | 4 | |
C4025741 | Clinodactyly of the 5th toe | 6 | |
C4025744 | Foot acroosteolysis | 5 | |
C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | 14 | |
C0037274 | Dermatologic disorders | 94 | |
C1846797 | Short stature, severe disproportionate | 9 | |
C4280503 | Premature hardening of arteries | 5 | |
C4280506 | Plaque build-up in arteries supplying blood to heart | 6 | |
C3697248 | Short lower third of face | 9 | |
C0022596 | Palmoplantar Keratosis | 60 | |
C0022593 | Keratosis | 5 | |
C0005686 | Urinary Bladder Diseases | 5 | |
C0238463 | Papillary thyroid carcinoma | 31 | |
C0456132 | Large fontanelle | 46 | |
C3806554 | Dysseborrheic dermatitis | 13 | |
C1849300 | Widely patent fontanels and sutures | 12 | |
C1846868 | Favorable response to levodopa | 6 | |
C0748318 | Progressive renal failure | 13 | |
C0524620 | Metabolic Syndrome X | 20 | |
C0376358 | Malignant neoplasm of prostate | 11 | |
C0282631 | Facies | 8 | |
C0239594 | Short finger | 17 | |
C0013362 | Dysarthria | 191 | |
C0013363 | Dysautonomia | 20 | |
C0033375 | Prolactinoma | 10 | |
C0005424 | Biliary Tract Diseases | 16 | |
C1867873 | Failure to thrive in infancy | 33 | |
C0018536 | Hallux Valgus | 26 | |
C0018021 | Goiter | 18 | |
C0445347 | Thickening of glomerular basement membrane | 7 | |
C0241148 | Cutaneous plaque | 5 | |
C3277019 | Straight eyebrows | 5 | |
C1840235 | SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR | 5 | |
C1271219 | Congenital ectopic pupil | 7 | |
C0235259 | Subcapsular cataract | 5 | |
C0006625 | Cachexia | 43 | |
C0038449 | Stricture of artery | 4 | |
C1844891 | Ulnar angulation of the index finger | 5 | |
C0410550 | Collapse of vertebra | 14 | |
C0235032 | Neurotoxicity Syndromes | 26 | |
C0271623 | Hypogonadotropic hypogonadism | 73 | |
C0023380 | Lethargy | 77 | |
C1862968 | Generalized amyloid deposition | 6 | |
C1865279 | Fetal polyuria | 8 | |
C0085200 | Lewy Bodies | 4 | |
C0242788 | Breast Neoplasms, Male | 4 | |
C0344233 | Retinal blind spot | 11 | |
C0344232 | Blurred vision | 9 | |
C0085207 | Gestational Diabetes | 12 | |
C1861329 | Spinal canal stenosis | 12 | |
C0302885 | Testicular dysgenesis | 9 | |
C0271441 | Chronic otitis media | 51 | |
C0240635 | Byzanthine arch palate | 195 | |
C0348890 | Aplastic anemia, idiopathic | 4 | |
C0349204 | Nonorganic psychosis | 84 | |
C0020608 | Hypodontia | 81 | |
C1834034 | Absent/hypoplastic middle phalanx of 5th finger | 4 | |
C0546884 | Hypovolemia | 8 | |
C0030920 | Peptic Ulcer | 8 | |
C0221182 | Chordee | 6 | |
C1839630 | Hypotonia, severe | 33 | |
C1849173 | Periventricular neuronal heterotopia | 6 | |
C1843156 | Hearing loss, progressive sensorineural | 16 | |
C1853288 | Increased red blood cell mass | 4 | |
C0575081 | Gait abnormality | 136 | |
C0024299 | Lymphoma | 46 | |
C0752347 | Lewy Body Disease | 21 | |
C1854885 | Dysmyelination of the brain | 6 | |
C0010278 | Craniosynostosis | 44 | |
C4020731 | Abnormality of creatine metabolism | 4 | |
C0008489 | Chorea | 29 | |
C4280594 | Small wrist bones | 6 | |
C4280269 | Noncancerous mole | 28 | |
C0002994 | Angioedema | 10 | |
C0002622 | Amnesia | 17 | |
C0522153 | Urine color abnormal | 6 | |
C0239479 | Round face | 45 | |
C0162275 | Ketonuria | 8 | |
C4280596 | Calvarial defect | 10 | |
C0015732 | Fecal Incontinence | 7 | |
C0014170 | Endometrial Neoplasms | 52 | |
C3278636 | Neonatal insulin-dependent diabetes mellitus | 6 | |
C0014175 | Endometriosis | 152 | |
C4025008 | Reduced systolic function | 5 | |
C1837532 | Fused labia minora | 5 | |
C1860608 | Pili canaliculi | 4 | |
C1836623 | Low to undetectable plasma cortisol | 12 | |
C4021584 | Frontotemporal cerebral atrophy | 8 | |
C0003578 | Apnea | 45 | |
C1866730 | Rhizomelia | 25 | |
C0027726 | Nephrotic Syndrome | 57 | |
C0027720 | Nephrosis | 15 | |
C1858085 | Malar flattening | 130 | |
C1850256 | Median cleft lip | 7 | |
C1850259 | Short tibia | 9 | |
C1389016 | ATRIOVENTRICULAR CANAL DEFECT | 17 | |
C1389018 | Atrioventricular Septal Defect | 6 | |
C0598608 | Hyperhomocysteinemia | 11 | |
C0948480 | Coronary Restenosis | 5 | |
C1837397 | Global developmental delay, severe | 47 | |
C0020757 | Ichthyoses | 41 | |
C0521719 | Clouding of corneal stroma | 50 | |
C0032787 | Postoperative Complications | 4 | |
C1834846 | Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | 5 | |
C0035258 | Restless Legs Syndrome | 5 | |
C0151205 | Periorbital edema | 13 | |
C0013990 | Pathological accumulation of air in tissues | 10 | |
C1394691 | Bowel diverticula | 6 | |
C1839829 | Short distal phalanges | 50 | |
C0235752 | Port-Wine Stain | 8 | |
C0405580 | Adrenal cortical hypofunction | 16 | |
C1563720 | Kallmann Syndrome 2 (disorder) | 18 | |
C0011849 | Diabetes Mellitus | 74 | |
C0011848 | Diabetes Insipidus | 10 | |
C0038587 | Substance Withdrawal Syndrome | 53 | |
C0040412 | Fissured tongue | 17 | |
C1112705 | Nuclear non-senile cataract | 18 | |
C0030554 | Paresthesia | 32 | |
C1857042 | Sparse scalp hair | 42 | |
C1832446 | Sparse eyebrow | 42 | |
C0266786 | Short cord | 5 | |
C0006870 | Cannabis Dependence | 8 | |
C0023891 | Liver Cirrhosis, Alcoholic | 16 | |
C0023890 | Liver Cirrhosis | 130 | |
C0023892 | Biliary cirrhosis | 45 | |
C0023895 | Liver diseases | 88 | |
C0023897 | Liver Diseases, Parasitic | 9 | |
C4024989 | Hereditary nonpolyposis colorectal carcinoma | 18 | |
C1843300 | Sparse eyelashes | 31 | |
C0265783 | Congenital hypoplasia of lung | 48 | |
C3809288 | LEFT VENTRICULAR NONCOMPACTION 8 | 40 | |
C3805887 | Generalized osteoporosis with pathologic fractures | 6 | |
C0751295 | Memory Loss | 33 | |
C0393593 | Dystonia Disorders | 6 | |
C0393591 | AICARDI-GOUTIERES SYNDROME | 7 | |
C4023400 | Generalized hypopigmentation of hair | 5 | |
C1855675 | Arima syndrome | 7 | |
C4025763 | Abnormality of the rib cage | 12 | |
C0751748 | Nonketotic Hyperglycinemia | 4 | |
C0033578 | Prostatic Neoplasms | 477 | |
C0008297 | Choanal Atresia | 28 | |
C0848558 | Hypospadias | 4 | |
C0015695 | Fatty Liver | 60 | |
C4280380 | Repeated speech | 9 | |
C0311468 | Increased bilirubin level (finding) | 18 | |
C0004352 | Autistic Disorder | 273 | |
C3806283 | Frequent fractures | 53 | |
C0015967 | Fever | 124 | |
C1510586 | Autism Spectrum Disorders | 74 | |
C0558242 | Stretched skin | 10 | |
C0162819 | Skin Diseases, Vascular | 5 | |
C0042109 | Urticaria | 31 | |
C4020849 | Bowed and upward slanting eyebrows | 41 | |
C4020843 | Abnormal urinary amino-acid findings | 38 | |
C4020841 | EMG: decrement at repetitive stimulation | 4 | |
C4020840 | Abnormal vertebral bodies | 16 | |
C4020847 | Abnormality of pelvic girdle bone morphology | 37 | |
C4020846 | Prone to bacterial infection | 40 | |
C4020844 | Bullet vertebral body | 17 | |
C2752013 | Prenatal onset | 139 | |
C1368816 | Sebaceous adenoma | 18 | |
C0003962 | Ascites | 21 | |
C2973725 | Pulmonary arterial hypertension | 39 | |
C0740927 | Elevated maternal serum alpha-fetoprotein | 4 | |
C0032045 | Placenta Disorders | 4 | |
C3805574 | Increased fracture rate | 53 | |
C0241128 | Nikolsky sign | 6 | |
C0158646 | Cleft palate with cleft lip | 23 | |
C0009451 | Communicating Hydrocephalus | 8 | |
C1838705 | Anteriorly placed anus | 7 | |
C0013528 | Echolalia | 9 | |
C0232939 | Primary physiologic amenorrhea | 55 | |
C1837256 | Macrovesicular steatosis | 4 | |
C0013295 | Duodenal Ulcer | 6 | |
C1855580 | Exercise-induced muscle fatigue | 5 | |
C4072928 | Spoken Word Recognition Deficit | 6 | |
C0029442 | Osteomalacia | 11 | |
C0029443 | Osteomyelitis | 16 | |
C0029445 | Bone necrosis | 9 | |
C1865244 | Shallow orbits | 13 | |
C0151699 | Intracranial Hemorrhages | 15 | |
C0039445 | Hereditary hemorrhagic telangiectasia | 4 | |
C0151691 | High density lipoprotein decreased | 10 | |
C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 5 | |
C1860816 | Preauricular skin tag | 19 | |
C0876991 | Histiocytosis haematophagic | 4 | |
C0158252 | Intervertebral disc disorder | 6 | |
C0085220 | Cerebral Amyloid Angiopathy | 5 | |
C0029191 | Orchitis | 12 | |
C4072830 | Asymmetry of the posterior cranium | 20 | |
C0027092 | Myopia | 116 | |
C0877017 | Partial seizures with secondary generalisation | 4 | |
C0234182 | Gowers sign | 24 | |
C0023976 | Long QT Syndrome | 8 | |
C0427480 | Elliptocytosis found | 7 | |
C0079541 | Holoprosencephaly | 15 | |
C0266067 | Posterior lingual occlusion of mandibular teeth | 4 | |
C0266063 | Deep overbite | 4 | |
C3489733 | Oculomotor apraxia | 25 | |
C1849156 | Spastic Ataxia | 6 | |
C1857180 | Enlargement of the costochondral junction | 4 | |
C0424688 | Small head | 375 | |
C2697932 | Loeys-Dietz Syndrome | 4 | |
C0857379 | Auricular malformation | 41 | |
C0036337 | Schizoaffective Disorder | 20 | |
C0239676 | High forehead | 103 | |
C1863715 | Absent B cells | 4 | |
C1861975 | Cafe au lait spots, multiple | 17 | |
C0001956 | alcohol use disorder | 12 | |
C0025637 | Methemoglobinemia | 6 | |
C1848207 | Poor speech | 37 | |
C1832160 | Poor temperature regulation | 10 | |
C0038325 | Stevens-Johnson Syndrome | 30 | |
C1836392 | Dysmetric saccades | 8 | |
C0026850 | Muscular Dystrophy | 44 | |
C1833144 | Slender, gracile long tubular bones | 21 | |
C1866284 | Motor deterioration | 5 | |
C1866282 | CEROID LIPOFUSCINOSIS, NEURONAL, 6 | 6 | |
C1873509 | Hypotrichosis of the scalp | 6 | |
C4025021 | Increased hepatocellular lipid droplets | 7 | |
C0232744 | Decreased liver function | 24 | |
C0019054 | Hemolysis (disorder) | 6 | |
C0858355 | addicted to cocaine | 4 | |
C2673462 | Recurrent Staphylococcus aureus infections | 4 | |
C1836646 | Translucent skin | 4 | |
C0022360 | Jaw Abnormalities | 5 | |
C0027709 | Nephrocalcinosis | 24 | |
C0027708 | Nephroblastoma | 18 | |
C1866753 | Impaired horizontal smooth pursuit | 6 | |
C0027707 | Nephritis, Interstitial | 10 | |
C0342162 | Compensated hypothyroidism | 5 | |
C0234967 | Choreoathetoid movements | 32 | |
C0032617 | Polyuria | 23 | |
C0949445 | Cervical Dystonia | 17 | |
C0032231 | Pleurisy | 8 | |
C0017185 | Gastrointestinal Neoplasms | 7 | |
C0017181 | Gastrointestinal Hemorrhage | 52 | |
C0240421 | Muscle weakness, progressive | 22 | |
C1850189 | Large pinnae | 87 | |
C0018989 | Hemiparesis | 28 | |
C0428791 | Aortic valve calcification | 5 | |
C1851059 | Wide columella | 4 | |
C1384670 | Single umbilical artery | 5 | |
C1864903 | Hyperinsulinaemic hypoglycaemia | 16 | |
C1306587 | Acute encephalopathy | 4 | |
C0345354 | Radial polydactyly | 8 | |
C0040479 | Torsades de Pointes | 8 | |
C3277226 | Restrictive ventilatory defect | 11 | |
C0221373 | Claw hand | 26 | |
C1395674 | Bowel diverticulosis | 6 | |
C1848580 | Decreased methionine synthase activity | 4 | |
C0332573 | Macule | 19 | |
C0265275 | Jeune thoracic dystrophy | 10 | |
C0002514 | Amino Acid Metabolism, Inborn Errors | 13 | |
C0030578 | Paronychia Inflammation | 9 | |
C0399526 | Class III malocclusion | 78 | |
C0034050 | Pulmonary Alveolar Proteinosis | 6 | |
C1145670 | Respiratory Failure | 77 | |
C0233514 | Abnormal behavior | 52 | |
C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 139 | |
C0234428 | Disturbance of consciousness | 5 | |
C4025569 | Eunuchoid habitus | 14 | |
C0423776 | Palmar pit | 4 | |
C4023397 | Abnormal hair quantity | 16 | |
C1846142 | HOYERAAL-HREIDARSSON SYNDROME | 6 | |
C3552463 | Very poor growth | 114 | |
C0240991 | Ataxia, Sensory | 5 | |
C0240997 | Decreased serum ceruloplasmin | 4 | |
C0039841 | Thiamine Deficiency | 4 | |
C2751260 | Macrothrombocytopenia | 4 | |
C1844809 | Thick nasal alae | 5 | |
C0575167 | Deformity of neck | 19 | |
C1842366 | Low anterior hairline | 30 | |
C0004114 | Astrocytoma | 29 | |
C1844806 | Weight less than 3rd percentile | 17 | |
C1844752 | Butterfly vertebrae | 7 | |
C3806510 | Horizontal ribs | 5 | |
C0025286 | Meningioma | 23 | |
C0025289 | Meningitis | 27 | |
C0152101 | Hypoplastic Left Heart Syndrome | 8 | |
C0042345 | Varicosity | 12 | |
C0152459 | Linear atrophy | 15 | |
C0877359 | Liver function test increased | 80 | |
C0426824 | Beading of ribs | 6 | |
C0015944 | Fetal Membranes, Premature Rupture | 5 | |
C0042164 | Uveitis | 13 | |
C4020861 | Depressed philtrum | 21 | |
C4020860 | Supratentorial atrophy | 94 | |
C4020865 | Fibular polydactyly | 12 | |
C4020864 | Abnormality of the haematopoietic system | 10 | |
C4020867 | Persistant truncus arteriosus | 17 | |
C1864375 | Long hallux | 5 | |
C4020869 | Abnormality of the abdomen | 14 | |
C4020868 | Elevated heart rate | 25 | |
C0028738 | Nystagmus | 315 | |
C0231687 | Spastic gait | 23 | |
C0231686 | Gait, Unsteady | 29 | |
C0241240 | Tall stature | 34 | |
C0231688 | Gait, Shuffling | 8 | |
C0026640 | Mouth Neoplasms | 51 | |
C0685837 | Pure Gonadal Dysgenesis, 46, XX | 5 | |
C0685838 | Gonadal dysgenesis XX type deafness | 5 | |
C0003949 | Asbestosis | 11 | |
C1850049 | Bilateral fifth finger clinodactyly | 110 | |
C1855038 | Hepatocellular necrosis | 14 | |
C3494422 | Retrognathia | 55 | |
C0426820 | Thick rib | 5 | |
C0026706 | Mucopolysaccharidosis III | 4 | |
C0151908 | Dry skin | 75 | |
C2931322 | T-Lymphocytopenia | 9 | |
C4024737 | Aplasia/Hypoplasia of the skin | 16 | |
C0426799 | Congenital hypoplasia of clavicle | 18 | |
C0017661 | IGA Glomerulonephritis | 36 | |
C0017662 | Glomerulonephritis, Membranoproliferative | 6 | |
C0426790 | Narrow thorax | 53 | |
C1837279 | Hypoplastic toenails | 22 | |
C0017668 | Focal glomerulosclerosis | 36 | |
C0029464 | Osteosclerosis | 23 | |
C0029463 | Osteosarcoma | 39 | |
C1847584 | Distal sensory impairment | 52 | |
C0206061 | Pneumonia, Interstitial | 5 | |
C0409338 | Flexion contracture - elbow | 32 | |
C0477341 | Encephalitis, myelitis and encephalomyelitis in viral diseases classified elsewhere | 5 | |
C0234162 | Cerebellar Dysmetria | 56 | |
C0234166 | Hyperexplexia | 8 | |
C0006663 | Calcinosis | 45 | |
C0425913 | Uterus absent (finding) | 4 | |
C0155862 | Streptococcal pneumonia | 6 | |
C0007758 | Cerebellar Ataxia | 234 | |
C0011168 | Deglutition Disorders | 131 | |
C1867131 | Broad hallux | 29 | |
C1854510 | Abnormality of the cranial nerves | 7 | |
C1401086 | Peripheral vascular insufficiency | 4 | |
C0392386 | Decreased platelet count | 110 | |
C0024032 | Low Birth Weights | 69 | |
C0024031 | Low Back Pain | 5 | |
C0001973 | Alcoholic Intoxication, Chronic | 285 | |
C0000889 | Acanthosis Nigricans | 20 | |
C0000887 | Acantholysis | 6 | |
C0334008 | Pachyderma | 20 | |
C0008625 | Chromosome Aberrations | 14 | |
C4020866 | Equinovalgus deformity | 4 | |
C2316810 | Chronic kidney disease stage 5 | 31 | |
C0019214 | Hepatosplenomegaly | 22 | |
C0282193 | Iron Overload | 5 | |
C0014130 | Endocrine System Diseases | 11 | |
C0042571 | Vertigo | 28 | |
C4025043 | Abnormality of the pancreatic islet cells | 4 | |
C0019079 | Hemoptysis | 6 | |
C0687720 | Central Diabetes Insipidus | 5 | |
C4280572 | Acute blood cancer | 6 | |
C0022346 | Icterus | 82 | |
C0003537 | Aphasia | 9 | |
C0002018 | Alexia | 6 | |
C0426492 | Small tongue | 10 | |
C1844562 | Medial eyebrow flare | 4 | |
C0087012 | Ataxia, Spinocerebellar | 16 | |
C0426494 | Wasting of tongue | 4 | |
C4280576 | Difficulty making arithmetical calculations | 8 | |
C1290511 | Anodontia of Permanent Dentition | 5 | |
C0150993 | Pitting of nails | 6 | |
C0039231 | Tachycardia | 43 | |
C0151576 | Elevated creatine kinase | 103 | |
C0039239 | Sinus Tachycardia | 4 | |
C0231274 | Intolerant of heat | 7 | |
C0042790 | Vision Disorders | 6 | |
C4021815 | Abnormality of the palate | 17 | |
C4021813 | Oral cleft | 18 | |
C0206762 | Limb Deformities, Congenital | 15 | |
C0151718 | Hypocholesterolemia | 6 | |
C1839866 | Elevated serum acid phosphatase | 4 | |
C1303007 | Brushfield spots | 4 | |
C0339182 | Ankyloblepharon | 4 | |
C4021724 | Decreased activity of cytochrome C oxidase in muscle tissue | 10 | |
C4021727 | EMG: neuropathic changes | 16 | |
C4021726 | EMG: myopathic abnormalities | 22 | |
C4021728 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 4 | |
C0333355 | Inflammatory disease of mucous membrane | 8 | |
C0345375 | Congenital hypoplasia of femur | 8 | |
C0345371 | Hypoplasia of lower limb | 4 | |
C0040457 | Tooth, Supernumerary | 7 | |
C0401151 | Chronic diarrhea | 29 | |
C3554617 | Adducted thumb | 22 | |
C0339985 | Idiopathic bronchiectasis | 4 | |
C0242350 | Erectile dysfunction | 32 | |
C0024143 | Lupus Nephritis | 4 | |
C0265215 | Meckel-Gruber syndrome | 13 | |
C0009375 | Colonic Neoplasms | 141 | |
C0010930 | Dacryocystitis | 4 | |
C1458140 | Bleeding tendency | 36 | |
C1839248 | Broad chest | 8 | |
C1834118 | Potato nose | 48 | |
C0157917 | Pauciarticular juvenile rheumatoid arthritis | 9 | |
C2936346 | 22q11 Deletion Syndrome | 10 | |
C0431890 | Hypoplasia of thumb | 26 | |
C0011882 | Diabetic Neuropathies | 14 | |
C0011881 | Diabetic Nephropathy | 34 | |
C0011884 | Diabetic Retinopathy | 11 | |
C0271344 | Compression of optic nerve | 7 | |
C0266294 | Unilateral agenesis of kidney | 20 | |
C0266295 | Congenital hypoplasia of kidney | 32 | |
C0266292 | Congenital anomaly of the kidney | 12 | |
C0423757 | Thin skin | 46 | |
C0266568 | Persistent Hyperplastic Primary Vitreous | 4 | |
C0266298 | Accessory kidney | 5 | |
C1257806 | Chromosomal Instability | 8 | |
C0020502 | Hyperparathyroidism | 12 | |
C0233794 | Memory impairment | 33 | |
C0020580 | Hypesthesia | 7 | |
C0751072 | Frontotemporal Lobar Degeneration | 5 | |
C0037299 | Skin Ulcer | 48 | |
C0011334 | Dental caries | 73 | |
C0376480 | Gingival Overgrowth | 31 | |
C0004134 | Ataxia | 15 | |
C0079352 | Congenital torticollis | 6 | |
C0221358 | Long narrow head | 76 | |
C0221356 | Brachycephaly | 88 | |
C0221357 | Brachydactyly | 124 | |
C0221354 | Frontal bossing | 157 | |
C0221355 | Macrocephaly | 8 | |
C0221352 | Syndactyly of fingers | 48 | |
C0221353 | Horseshoe Kidney | 16 | |
C1844820 | Range of joint movement increased | 32 | |
C1856872 | Sloping shoulders | 21 | |
C1846550 | Decreased T cell activation | 4 | |
C0236175 | Elevated IgE | 10 | |
C0014306 | Enophthalmos | 63 | |
C4025728 | Increased neuronal autofluorescent lipopigment | 7 | |
C2063866 | Depressive Disorder, Treatment-Resistant | 6 | |
C0152438 | Sprengel deformity | 16 | |
C4025723 | Abnormal upper motor neuron morphology | 11 | |
C0272027 | Pyridoxine-responsive sideroblastic anemia | 16 | |
C0853193 | Bipolar I disorder | 17 | |
C1854301 | Motor delay | 148 | |
C0267048 | Glossoptosis | 10 | |
C0022575 | Keratoconjunctivitis Sicca | 6 | |
C4020805 | Athyroidal hypothyroidism | 5 | |
C0032914 | Pre-Eclampsia | 22 | |
C1840077 | Anteverted nostril | 191 | |
C0232461 | Increased appetite (finding) | 24 | |
C0232462 | Decrease in appetite | 8 | |
C0232466 | Feeding difficulties | 127 | |
C0005910 | Body Weight | 14 | |
C0426805 | Hooked clavicle | 5 | |
C0426806 | Bipartite clavicle | 5 | |
C0032000 | Pituitary Adenoma | 6 | |
C0520679 | Sleep Apnea, Obstructive | 10 | |
C1840253 | IgE RESPONSIVENESS, ATOPIC | 8 | |
C0339063 | Cellulitis of eyelid | 17 | |
C1865060 | Molar tooth sign on MRI | 12 | |
C3278004 | Thymic hypoplasia or aplasia | 4 | |
C0268559 | Hyperglycinemia | 6 | |
C1512419 | Hereditary Melanoma | 12 | |
C0345967 | Malignant mesothelioma | 104 | |
C0700501 | Congenital nystagmus | 5 | |
C0029408 | Degenerative polyarthritis | 115 | |
C0029401 | Osteitis Deformans | 8 | |
C1865200 | Delayed epiphyseal ossification | 10 | |
C0235095 | Visual field constriction | 36 | |
C1855019 | Psychomotor regression | 88 | |
C0220981 | Metabolic acidosis | 43 | |
C0220982 | Ketoacidosis | 11 | |
C1850535 | Absent scalp hair | 5 | |
C0026987 | Myelofibrosis | 8 | |
C0027059 | Myocarditis | 5 | |
C0027051 | Myocardial Infarction | 104 | |
C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 16 | |
C0003076 | Aniridia | 8 | |
C0027055 | Myocardial Reperfusion Injury | 36 | |
C1858569 | Absence of Stensen duct | 4 | |
C0234144 | Dysgraphia | 16 | |
C0234146 | Absent reflex | 93 | |
C0042909 | Vitreous Hemorrhage | 6 | |
C3891448 | NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO | 5 | |
C0011436 | Dentinogenesis Imperfecta | 5 | |
C0427190 | Ataxia, Truncal | 21 | |
C0221166 | Paraparesis | 6 | |
C3714581 | Multicystic Dysplastic Kidney | 52 | |
C0855329 | Electrocardiogram change | 69 | |
C0497552 | Congenital neurologic anomalies | 20 | |
C0034150 | Purpura | 27 | |
C0034155 | Purpura, Thrombotic Thrombocytopenic | 4 | |
C0024236 | Lymphedema | 22 | |
C0024232 | Lymphatic Metastasis | 14 | |
C4024507 | Aplasia/Hypoplasia of the distal phalanx of the 5th finger | 5 | |
C0241521 | Ulnar deviation of hand | 9 | |
C0026034 | Microstomia | 78 | |
C1842083 | Abnormality of the ribs | 32 | |
C0239981 | Hypoalbuminemia | 24 | |
C0004096 | Asthma | 99 | |
C0239984 | Elevated serum IgA | 5 | |
C0030232 | Pallor | 41 | |
C4021737 | Chromosomal breakage induced by crosslinking agents | 5 | |
C4021611 | Abnormality of epiphysis morphology | 39 | |
C0266174 | Duodenal atresia | 6 | |
C0001916 | Albinism | 11 | |
C0431370 | Atrophy of corpus callosum | 4 | |
C0431376 | Cobblestone Lissencephaly | 8 | |
C0239181 | Intermittent diarrhea | 5 | |
C0038363 | Aphthous Stomatitis | 15 | |
C0038362 | Stomatitis | 7 | |
C0271801 | Central hypothyroidism | 6 | |
C0019270 | Hernia | 9 | |
C1405984 | Absent radius | 15 | |
C0155733 | Atherosclerosis of aorta | 5 | |
C0400966 | Non-alcoholic Fatty Liver Disease | 39 | |
C0699791 | Stomach Carcinoma | 11 | |
C1849265 | Overgrowth | 16 | |
C0002938 | Aneuploidy | 4 | |
C0259817 | Xerosis | 75 | |
C1858025 | Spinal rigidity | 13 | |
C4022878 | Descending aortic dissection | 13 | |
C3806301 | Scarring alopecia of scalp | 13 | |
C0032273 | Pneumoconiosis | 13 | |
C1833104 | DIABETES MELLITUS, PERMANENT NEONATAL | 5 | |
C0014116 | Endocardial Cushion Defects | 17 | |
C0014117 | Endocardial Fibroelastosis | 5 | |
C3278923 | Dilated ventricles (finding) | 122 | |
C0263498 | Premature canities | 24 | |
C0263491 | Pili Torti | 6 | |
C1837485 | Flat acetabular roof | 10 | |
C1837482 | Thoracic hypoplasia | 14 | |
C1837483 | Posterior rib cupping | 5 | |
C1849677 | Numerous nevi | 5 | |
C1275278 | Extraskeletal Myxoid Chondrosarcoma | 5 | |
C1290398 | Cerebral arterial aneurysm | 8 | |
C0231528 | Myalgia | 55 | |
C0040028 | Thrombocythemia, Essential | 12 | |
C4021527 | Abdominal wall muscle weakness | 6 | |
C1836688 | Narrow iliac wings | 7 | |
C1850496 | Neuronal loss | 25 | |
C1850493 | Psychomotor regression, progressive | 88 | |
C0949595 | Gonadal Dysgenesis, 46,XX | 5 | |
C4280613 | Angle class 3 malocclusion | 57 | |
C1859775 | Anterior pituitary hypoplasia | 13 | |
C1859778 | Postnatal growth retardation | 57 | |
C1851542 | Limited hip movement | 4 | |
C4021745 | Abnormality of the musculature | 16 | |
C4021742 | Abnormality of the humerus | 6 | |
C4021741 | Abnormal cortical bone morphology | 22 | |
C4021740 | Increased circulating ACTH level | 8 | |
C1838681 | Rapidly progressive | 27 | |
C0240671 | Partial thromboplastin time increased (finding) | 11 | |
C0345397 | Accessory rib | 10 | |
C1855204 | Cellular immunodeficiency | 17 | |
C4280619 | Missing more than six teeth | 22 | |
C0432197 | Short rib-polydactyly syndrome, Verma-Naumoff type | 5 | |
C0265234 | Branchio-Oto-Renal Syndrome | 4 | |
C0948163 | Leukoaraiosis | 18 | |
C0431564 | Lobulated tongue | 4 | |
C0677886 | Epithelial ovarian cancer | 8 | |
C3279397 | Very long chain fatty acid accumulation | 13 | |
C1835884 | Triangular face | 58 | |
C4024927 | Peripheral hypomyelination | 7 | |
C1860069 | Exercise-induced myoglobinuria in adults | 4 | |
C0427055 | Facial Paresis | 59 | |
C0149645 | Cervical myelopathy | 6 | |
C0423224 | Sunken eyes | 63 | |
C0424503 | Dysmorphic facies | 47 | |
C0423221 | Globe of eye large | 20 | |
C0338451 | Frontotemporal dementia | 10 | |
C0085109 | Corneal Neovascularization | 13 | |
C0037763 | Spasm | 6 | |
C0037769 | West Syndrome | 18 | |
C0021361 | Female infertility | 29 | |
C1849075 | Relative macrocephaly | 12 | |
C1849073 | Fused vertebrae | 25 | |
C1860493 | Sternal anomalies | 19 | |
C0011351 | Dental Enamel Hypoplasia | 35 | |
C0020071 | Hereditary Sensory Autonomic Neuropathy, Type 1 | 4 | |
C3808022 | Abdominal pain, episodic | 9 | |
C0020075 | Hereditary Sensory Autonomic Neuropathy, Type 5 | 5 | |
C0221333 | Hypouricemia | 5 | |
C0581342 | Redundant skin | 28 | |
C0266544 | Microcornea | 47 | |
C0221629 | Proximal muscle weakness | 47 | |
C1854494 | Slow progression | 90 | |
C1854495 | Recurrent gastrointestinal infections | 4 | |
C0014324 | Entamoebiasis | 6 | |
C0152419 | Interrupted aortic arch | 4 | |
C0152415 | Ankyloglossia | 5 | |
C1955869 | Malformations of Cortical Development | 12 | |
C1854678 | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | 5 | |
C0036631 | Seminoma | 5 | |
C0973461 | Dysphasia | 23 | |
C0024776 | Maple Syrup Urine Disease | 5 | |
C3553450 | Profound global developmental delay | 17 | |
C1836855 | Vacuolated lymphocytes | 8 | |
C1836852 | 'Curvilinear profiles' ultrastructurally in cells | 5 | |
C0014859 | Esophageal Neoplasms | 67 | |
C0005937 | Bone Cysts | 12 | |
C4021998 | Lack of skin elasticity | 10 | |
C2748653 | Chubby cheeks | 50 | |
C2748652 | Large face | 7 | |
C0151945 | Thrombosis of cerebral veins | 6 | |
C2931367 | Thyroid cancer, follicular | 7 | |
C2931817 | Chromosome 2q37 deletion syndrome | 4 | |
C0151942 | Arterial thrombosis | 9 | |
C0238394 | Female Pseudohermaphroditism | 5 | |
C0013581 | Ectopia Lentis | 17 | |
C0238397 | Pulmonary artery stenosis | 20 | |
C4020824 | Absence of B cells | 4 | |
C4020821 | Aplasia of the interphalangeal creases | 5 | |
C0029422 | Osteochondrodysplasias | 72 | |
C0432055 | Simple syndactyly of fingers - first web | 9 | |
C1384600 | Systemic onset juvenile chronic arthritis | 4 | |
C1384606 | Dyspareunia | 9 | |
C3495559 | Juvenile arthritis | 128 | |
C0086565 | Liver Dysfunction | 98 | |
C1851972 | Reticulate hyperpigmentation | 5 | |
C1851971 | Hypoplastic myelodysplasia | 18 | |
C0011981 | Diaphragmatic Eventration | 4 | |
C0011633 | Dermatomyositis | 6 | |
C1847766 | Shoulder girdle muscle atrophy | 6 | |
C1847762 | Cerebellar cyst | 5 | |
C1864795 | Pectus carinatum superiorly | 4 | |
C3714745 | Malabsorption | 82 | |
C0006118 | Brain Neoplasms | 23 | |
C0006111 | Brain Diseases | 23 | |
C0006114 | Cerebral Edema | 25 | |
C4025660 | Abnormality of the ankles | 5 | |
C1835763 | Vertebral body fusion | 25 | |
C1838320 | Hyperorality | 7 | |
C0268621 | Hepatic methionine adenosyltransferase deficiency | 7 | |
C1855698 | Scalp aplasia cutis congenita | 5 | |
C0040822 | Tremor | 112 | |
C0344724 | Ostium secundum atrial septal defect | 9 | |
C0023487 | Acute Promyelocytic Leukemia | 38 | |
C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 12 | |
C4049796 | Abnormality of cardiovascular system morphology | 23 | |
C1857121 | Neurodevelopmental regression | 88 | |
C2266639 | Absence of eyebrows | 31 | |
C1857697 | Lip telangiectases | 4 | |
C0338488 | Alternating hemiplegia of childhood | 4 | |
C0270790 | Quadriparesis | 8 | |
C0233477 | Dysphoric mood | 7 | |
C0023267 | Fibroid Tumor | 6 | |
C0023264 | Leigh Disease | 33 | |
C0007570 | Celiac Disease | 20 | |
C1842060 | Prominent supraorbital ridges | 19 | |
C0030252 | Palpitations | 18 | |
C3164445 | Abnormality of aortic valve | 9 | |
C4025888 | Abnormality of the menstrual cycle | 4 | |
C4025881 | Abnormality of oral frenula | 7 | |
C4025884 | Abnormality of upper lip | 4 | |
C4025887 | Abnormality of the oral cavity | 4 | |
C0520680 | Sleep Apnea, Central | 8 | |
C0175704 | LEOPARD Syndrome | 5 | |
C2676974 | Hypoplastic cochlea | 6 | |
C0025160 | Megacolon | 28 | |
C0349391 | Apraxia, Verbal | 5 | |
C3550546 | Depressed nasal root/bridge | 195 | |
C1866227 | Somatic mosaicism | 6 | |
C1866558 | Neural tube defect, folate-sensitive | 4 | |
C1862425 | Prominent globes | 96 | |
C0546264 | Congenital Fiber Type Disproportion | 7 | |
C0001430 | Adenoma | 31 | |
C0025303 | Meningococcal Infections | 4 | |
C4020885 | Difficulties with night vision | 86 | |
C1328587 | Panhypogammaglobulinemia | 9 | |
C1859717 | Depressed nasal tip | 11 | |
C0596263 | Carcinogenesis | 7 | |
C4020882 | Abnormality of the backbone | 4 | |
C1844527 | Clitoral hypoplasia | 12 | |
C1836440 | Increased serum lactate | 53 | |
C0877056 | Hypoglycaemic seizure | 10 | |
C0017168 | Gastroesophageal reflux disease | 79 | |
C1854113 | Prominent nasal bridge | 57 | |
C0175754 | Agenesis of corpus callosum | 82 | |
C1854114 | Short nose | 132 | |
C0022658 | Kidney Diseases | 113 | |
C0022650 | Kidney Calculi | 7 | |
C2239176 | Liver carcinoma | 240 | |
C0206726 | gliosarcoma | 16 | |
C0206727 | Nerve Sheath Tumors | 5 | |
C0206729 | Neurofibrosarcoma | 5 | |
C0742028 | Cerebellar vermis atrophy | 4 | |
C4021768 | Abnormality of metabolism/homeostasis | 135 | |
C4021761 | Morphological abnormality of the pyramidal tract | 11 | |
C1838663 | Enlargement of the wrists | 5 | |
C1838662 | Metaphyseal irregularity | 23 | |
C1384666 | hearing impairment | 198 | |
C1855996 | Psychomotor regression beginning in infancy | 88 | |
C1844813 | Widely spaced teeth | 31 | |
C0023012 | Language Delay | 113 | |
C0023015 | Language Disorders | 13 | |
C0023014 | Language Development Disorders | 10 | |
C1848529 | Pontine hypoplasia | 7 | |
C3549703 | Retinal thinning | 7 | |
C2936380 | Neointima | 5 | |
C3887875 | Visual field defects | 19 | |
C0497327 | Dementia | 63 | |
C0338474 | Central nervous system demyelination | 28 | |
C0085129 | Bronchial Hyperreactivity | 12 | |
C1839758 | Narrow forehead | 35 | |
C0264353 | Bronchomalacia | 7 | |
C1849016 | Broad femoral neck | 4 | |
C1843077 | Segmental demyelination/remyelination | 8 | |
C0265610 | Congenital clinodactyly | 58 | |
C0575497 | Short sternum | 5 | |
C0040588 | Tracheoesophageal Fistula | 36 | |
C0154832 | Exudative retinopathy | 4 | |
C0040583 | Tracheal Stenosis | 8 | |
C0750929 | Arnold-Chiari Malformation, Type I | 5 | |
C0339789 | Congenital deafness | 184 | |
C4022996 | Abnormal sex determination | 11 | |
C4022995 | Sex reversal | 10 | |
C0751466 | Phonophobia | 11 | |
C1970308 | Selective tooth agenesis | 6 | |
C0235991 | Small for gestational age (disorder) | 69 | |
C0022821 | Kyphosis deformity of spine | 115 | |
C0235996 | Hepatic enzyme increased | 80 | |
C2751608 | Pituitary Hormone Deficiency, Combined, 1 | 6 | |
C0553681 | Hypofibrinogenemia | 4 | |
C0423867 | Fine hair | 42 | |
C3805919 | Recurrent intrapulmonary hemorrhage | 4 | |
C0024796 | Marfan Syndrome | 9 | |
C1844738 | Axillary pterygia | 6 | |
C1836830 | Developmental regression | 88 | |
C0014877 | Esotropia | 19 | |
C0239399 | Short extremities | 7 | |
C1271100 | Lower limb spasticity | 10 | |
C0685891 | Congenital hypoplasia of thymus | 15 | |
C4025731 | Abnormal thrombosis | 6 | |
C0005956 | Bone Marrow Diseases | 7 | |
C0426848 | Sacral dimples | 18 | |
C4021972 | Urogenital sinus anomaly | 15 | |
C4021975 | Abnormality of the tonsils | 10 | |
C4021976 | Abnormality of the lymphatic system | 14 | |
C4021977 | Visceral angiomatosis | 13 | |
C1865027 | Hypoplastic iliac wing | 19 | |
C1848555 | Hypomethioninemia | 4 | |
C1865020 | Short QT Syndrome 1 | 4 | |
C1856963 | Fragile nails | 16 | |
C4022448 | Abnormal prolactin level | 7 | |
C0432073 | Defect of skull ossification | 10 | |
C0041696 | Unipolar Depression | 252 | |
C0009676 | Confusion | 22 | |
C0033937 | Psychoses, Drug | 9 | |
C0684219 | Myokymia | 6 | |
C1850573 | Slender build | 14 | |
C1855052 | MICROPHTHALMIA, ISOLATED 1 | 7 | |
C3806178 | Spotty hypopigmentation | 4 | |
C1856507 | Bulbar signs | 4 | |
C0948896 | Primary hypogonadism | 36 | |
C0011616 | Contact Dermatitis | 71 | |
C1851731 | Generalized overgrowth | 16 | |
C0011615 | Dermatitis, Atopic | 37 | |
C0035579 | Rickets | 17 | |
C0809983 | Schizophrenia and related disorders | 8 | |
C0344523 | Cataract, congenital, cerulean type 1 | 4 | |
C0034372 | Quadriplegia | 10 | |
C2749675 | Cortical gyral simplification | 19 | |
C0023465 | Acute monocytic leukemia | 4 | |
C0409354 | Flexion contracture of hip | 10 | |
C0023467 | Leukemia, Myelocytic, Acute | 119 | |
C1857108 | Decreased joint mobility | 53 | |
C0243050 | Cardiovascular Abnormalities | 31 | |
C1834523 | ARTHROGRYPOSIS, DISTAL, TYPE 2B | 6 | |
C0007222 | Cardiovascular Diseases | 59 | |
C0242184 | Hypoxia | 33 | |
C0239946 | Fibrosis, Liver | 32 | |
C0239941 | Foetal haemoglobin increased | 7 | |
C0010701 | Phyllodes Tumor | 5 | |
C0277799 | Intermittent fever | 15 | |
C4025319 | Cessation of head growth | 5 | |
C0424711 | Orbital separation diminished | 23 | |
C0162298 | Joint stiffness | 84 | |
C4020810 | White matter dysmyelination/demyelination | 6 | |
C0751401 | Ophthalmoparesis | 11 | |
C0162292 | External Ophthalmoplegia | 6 | |
C0025149 | Medulloblastoma | 52 | |
C1861172 | Venous Thromboembolism | 8 | |
C1866772 | Abnormal nerve conduction velocity | 4 | |
C1868672 | NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE | 4 | |
C0850715 | Abnormality of blood and blood-forming tissues | 10 | |
C0024636 | Malocclusion | 57 | |
C1853486 | WIDOW'S PEAK | 6 | |
C1853487 | Bushy eyebrows | 49 | |
C0281966 | reproductive system abnormality | 17 | |
C1849221 | Fair hair | 7 | |
C0025323 | Menorrhagia | 17 | |
C0025322 | Premature Menopause | 24 | |
C0004238 | Atrial Fibrillation | 38 | |
C0004239 | Atrial Flutter | 4 | |
C0004943 | Behcet Syndrome | 22 | |
C1844508 | Large foramen magnum | 6 | |
C1844505 | Pointed chin | 33 | |
C1295654 | Decreased testosterone level | 4 | |
C0162835 | Hypopigmentation disorder | 25 | |
C3806347 | Hyperhomocystinemia | 6 | |
C0343073 | Wooly hair | 17 | |
C0042514 | Tachycardia, Ventricular | 24 | |
C0152200 | Achromatopsia | 8 | |
C0042510 | Ventricular Fibrillation | 16 | |
C0013423 | Dystonia Musculorum Deformans | 5 | |
C0013421 | Dystonia | 108 | |
C1845155 | Myoglobinuria, exercise-induced | 4 | |
C4020787 | Subcoronal hypospadias | 4 | |
C1848178 | Female external genitalia in males | 13 | |
C0002792 | anaphylaxis | 4 | |
C0239234 | Low set ears | 181 | |
C1863353 | Hypoplastic vertebral bodies | 7 | |
C1863351 | Calvarial hyperostosis | 5 | |
C0022679 | Cystic kidney | 30 | |
C0022672 | Acute Kidney Tubular Necrosis | 4 | |
C0027643 | Neoplasm Recurrence, Local | 30 | |
C1857632 | Narrow hands | 7 | |
C1850900 | Familial primary gastric lymphoma | 4 | |
C0700359 | Organophosphate poisoning | 4 | |
C1840379 | Cerebellar vermis hypoplasia | 24 | |
C4021782 | Abnormality of the fingernails | 51 | |
C4021780 | Abnormality of the liver | 21 | |
C4021787 | Abnormal diaphysis morphology | 5 | |
C4021786 | Atypical scarring of skin | 62 | |
C4021785 | Abnormality of the metacarpal bones | 17 | |
C1857953 | Deep plantar creases | 5 | |
C4021789 | Abnormality of the vertebral column | 4 | |
C0151516 | Thyroid Hypoplasia | 4 | |
C0151514 | Atrophic condition of skin | 25 | |
C0013132 | Drooling | 27 | |
C0038525 | Subarachnoid Hemorrhage | 7 | |
C0236736 | Cocaine-Related Disorders | 90 | |
C1142132 | Carnitine deficiency | 6 | |
C0241772 | Reflex, Deep Tendon, Absent | 93 | |
C1292120 | Extramedullary erythropoiesis | 5 | |
C0023075 | Laryngostenosis | 7 | |
C0018817 | Atrial Septal Defects | 86 | |
C0026552 | Morphine Dependence | 7 | |
C0009319 | Colitis | 31 | |
C3665347 | Visual Impairment | 174 | |
C0271093 | Stargardt's disease | 5 | |
C3665349 | Secondary hypothyroidism | 14 | |
C1720887 | Female Urogenital Diseases | 18 | |
C0016049 | Fibromatosis, Gingival | 8 | |
C0233844 | Clumsiness | 7 | |
C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | 7 | |
C0432333 | Abnormal dermatoglyphic pattern | 24 | |
C0003119 | Anophthalmos | 13 | |
C1864985 | Progressive disorder | 143 | |
C0542518 | Enlarged kidney | 13 | |
C0751895 | Vasospasm, Intracranial | 5 | |
C0542514 | Blue sclera | 31 | |
C1835047 | MELANOMA, CUTANEOUS MALIGNANT, 1 | 13 | |
C0041349 | Nephritis, Tubulointerstitial | 8 | |
C0020523 | Immediate hypersensitivity | 8 | |
C3160718 | PARKINSON DISEASE, LATE-ONSET | 10 | |
C0079487 | Helicobacter Infections | 5 | |
C0270948 | Neurogenic Muscular Atrophy | 138 | |
C0023269 | leiomyosarcoma | 5 | |
C1843504 | Pontocerebellar Hypoplasia Type 1 | 5 | |
C1843505 | Degeneration of anterior horn cells | 8 | |
C1843057 | Calf muscle hypertrophy | 9 | |
C1849039 | Metaphyseal widening | 22 | |
C4024780 | Almond-shaped eyes | 24 | |
C1956257 | Pulmonary Stenosis | 45 | |
C0581381 | Recurrent upper respiratory tract infection | 21 | |
C0266589 | Congenital ear anomaly NOS (disorder) | 29 | |
C4082299 | Bulbar palsy | 19 | |
C0036983 | Septic Shock | 5 | |
C0036982 | Shock, Hemorrhagic | 7 | |
C0036454 | Scotoma | 11 | |
C4025788 | Nystagmus-induced head nodding | 9 | |
C4025787 | Skull defect | 10 | |
C0021125 | Impulsive Behavior | 9 | |
C0751093 | Dystonia, Limb | 9 | |
C0240912 | Vertical Talus | 25 | |
C0240914 | Romberg's sign positive | 4 | |
C4280630 | Pinched bridge of nose | 15 | |
C3551954 | COENZYME Q10 DEFICIENCY, PRIMARY, 1 | 6 | |
C1398301 | Short palate | 4 | |
C4280635 | Decreased facial muscle movement | 6 | |
C4280636 | Hypertrophy of supraorbital ridge | 19 | |
C4280637 | Hypertrophy of supraorbital margins | 19 | |
C4280638 | Hyperplasia of supraorbital ridge | 19 | |
C4280639 | Hyperplasia of supraorbital margins | 19 | |
C0010043 | Corneal Ulcer | 15 | |
C0162627 | Skin Diseases, Bacterial | 7 | |
C0019196 | Hepatitis C | 15 | |
C0015672 | Fatigue | 176 | |
C4280456 | Dysplasia of tooth enamel | 35 | |
C4280457 | Defective enamel matrix | 35 | |
C0410180 | Eichsfeld type congenital muscular dystrophy | 4 | |
C0410189 | Muscular Dystrophy, Emery-Dreifuss | 4 | |
C0020255 | Hydrocephalus | 111 | |
C0005974 | Bone Resorption | 7 | |
C0395837 | Stenosis of external auditory canal | 13 | |
C1842878 | Short fifth finger | 9 | |
C4021956 | Aplasia/Hypoplasia of the eyebrow | 31 | |
C4021957 | Recurrent cutaneous abscess formation | 4 | |
C4021959 | Round ear | 4 | |
C3536741 | Discordant ventriculoarterial connection | 17 | |
C1568249 | Usher Syndrome, Type II | 5 | |
C1568247 | Usher Syndrome, Type I | 6 | |
C0206138 | CREST Syndrome | 6 | |
C3806482 | Recurrent respiratory infections | 142 | |
C1389113 | Generalized amyotrophy | 20 | |
C0684276 | Hypsarrhythmia | 25 | |
C0022116 | Ischemia | 28 | |
C0521619 | Obstruction of pelviureteric junction | 8 | |
C0009918 | Contracture of joint | 93 | |
C0035372 | Rett Syndrome | 6 | |
C0151891 | Retinal depigmentation | 12 | |
C2931277 | Pena Shokeir syndrome Type 2 | 4 | |
C0006157 | Breech Presentation | 10 | |
C0476403 | Electromyogram abnormal | 41 | |
C4022031 | Abnormality of calcium-phosphate metabolism | 4 | |
C0344505 | Alacrima | 9 | |
C0600260 | Lung Diseases, Obstructive | 4 | |
C0344509 | Agenesis of punctum lacrimale | 4 | |
C0796126 | AICARDI-GOUTIERES SYNDROME 1 | 5 | |
C0020649 | Hypotension | 82 | |
C0271650 | Impaired glucose tolerance | 27 | |
C0740898 | Hypokalemic metabolic alkalosis | 4 | |
C1840418 | Thickened cortex of long bones | 4 | |
C0525041 | Neurobehavioral Manifestations | 7 | |
C0525045 | Mood Disorders | 183 | |
C0041667 | Underweight | 17 | |
C1848977 | Short upper lip | 7 | |
C1851712 | Dural ectasia | 4 | |
C0242216 | Biliary calculi | 4 | |
C1856560 | Large vacuolated foam cells ('NP cells') on bone marrow biopsy | 5 | |
C0023448 | Lymphoid leukemia | 8 | |
C0023449 | Acute lymphocytic leukemia | 8 | |
C1834055 | Thin hypoplastic alae nasi | 51 | |
C0023221 | Leg Length Inequality | 6 | |
C0235659 | Reduced fetal movement | 53 | |
C0035078 | Kidney Failure | 75 | |
C4023786 | Elevated levels of phytanic acid | 15 | |
C0030293 | Pancreatic Insufficiency | 13 | |
C0030297 | Pancreatic Neoplasm | 85 | |
C4011556 | Eyebrow abnormalities | 12 | |
C0342418 | Hypothalamic hamartomas | 4 | |
C1851868 | Reduced tensile strength of hair | 25 | |
C4021371 | Absent mandible | 6 | |
C1846821 | Coagulation abnormalities | 27 | |
C2216370 | Cherry red spot of the macula | 7 | |
C0554972 | Large auricle | 87 | |
C0554970 | Pallor of optic disc | 39 | |
C0340971 | Autoimmune neutropenia | 5 | |
C0423109 | Upward slant of palpebral fissure | 75 | |
C0424731 | Single transverse palmar crease | 29 | |
C1406835 | Toe contractures | 5 | |
C0456070 | Growth delay | 114 | |
C0019569 | Hirschsprung Disease | 31 | |
C1396772 | Congenital hypoplasia of epiglottis | 4 | |
C0037116 | Silicosis | 7 | |
C1834954 | Coronal cleft vertebrae | 8 | |
C0553723 | Squamous cell carcinoma of skin | 11 | |
C0553720 | Spherocytosis | 5 | |
C0747078 | Generalized osteopenia | 99 | |
C0001206 | Acromegaly | 17 | |
C0004782 | Basal Ganglia Diseases | 14 | |
C0426414 | Small nose | 132 | |
C0426415 | Large nose | 23 | |
C1263846 | Attention deficit hyperactivity disorder | 94 | |
C0339573 | Glaucoma, Primary Open Angle | 8 | |
C0042063 | Urogenital Abnormalities | 9 | |
C0152227 | Excessive tearing | 7 | |
C0028960 | Oligospermia | 16 | |
C0028961 | Oliguria | 8 | |
C0028968 | Olivopontocerebellar Atrophies | 6 | |
C1861063 | TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) | 12 | |
C0078982 | Arhinencephaly | 5 | |
C0078981 | Arachnoid Cysts | 5 | |
C0026106 | Mild Mental Retardation | 70 | |
C4021546 | Abnormal mitochondria in muscle tissue | 17 | |
C4021541 | Anterior beaking of lumbar vertebrae | 4 | |
C1840319 | Redundant neck skin | 4 | |
C1838625 | Warburg Sjo Fledelius syndrome | 4 | |
C1866487 | Prominent nasolabial folds | 5 | |
C1837352 | Childhood onset | 39 | |
C3839753 | Abnormality of nail of toe | 11 | |
C0013405 | Dyspnea, Paroxysmal | 13 | |
C0013404 | Dyspnea | 69 | |
C0018834 | Heartburn | 76 | |
C3278509 | Spinal fusion | 25 | |
C1845847 | Coarse facial features | 108 | |
C0265213 | Distal arthrogryposis syndrome | 8 | |
C0345049 | Ascending aorta dilatation | 5 | |
C0344312 | White forelock | 12 | |
C0344315 | Depressed mood | 17 | |
C0085307 | Embolism and Thrombosis | 6 | |
C0432355 | Hypoplasia of nipple | 16 | |
C0158113 | Contracture of joint of hand | 30 | |
C3887611 | Restlessness | 14 | |
C0678222 | Breast Carcinoma | 26 | |
C0030849 | Penile Neoplasms | 4 | |
C1621895 | Adrenal hyperplasia | 13 | |
C0020507 | Hyperplasia | 26 | |
C0020505 | Hyperphagia | 24 | |
C0020503 | Hyperparathyroidism, Secondary | 7 | |
C0020500 | Hyperoxaluria | 8 | |
C1836542 | Depressed nasal bridge | 195 | |
C0016382 | Flushing | 60 | |
C0270922 | Peripheral demyelinating neuropathy | 7 | |
C0270921 | Axonal neuropathy | 18 | |
C0265654 | Tarsal Coalition | 12 | |
C0149770 | Rectal abscess | 5 | |
C3554568 | Young adult onset | 6 | |
C2700617 | Irritation - emotion | 68 | |
C0241816 | Global brain atrophy | 7 | |
C1868085 | Craniofacial hyperostosis | 11 | |
C0341787 | Bifid scrotum | 16 | |
C0024421 | Macroglossia | 65 | |
C1832598 | Narrow interpedicular space | 4 | |
C2237142 | Psychomotor retardation, moderate | 6 | |
C4230640 | Convex nasal bridge | 57 | |
C1853383 | Tented mouth | 19 | |
C4280616 | Large elongated pulp chamber | 14 | |
C4280617 | Tooth mass arch size discrepancy | 45 | |
C4280614 | Angle class 2 malocclusion | 57 | |
C4280615 | Defective tooth enamel | 31 | |
C4280612 | Decreased width of tooth | 58 | |
C1854387 | Type 1 muscle fiber predominance | 10 | |
C4280610 | Abnormality of position of teeth | 8 | |
C4280611 | Decreased size of teeth | 61 | |
C0036651 | Senile lentigo | 10 | |
C4280618 | Inadequate arch length for tooth size | 45 | |
C1845206 | Decreased plasma renin activity | 9 | |
C0010068 | Coronary heart disease | 16 | |
C0423820 | Ridged nails | 14 | |
C0021368 | Inflammation | 112 | |
C0423823 | Thin nails | 5 | |
C0021364 | Male infertility | 69 | |
C0162316 | Iron deficiency anemia | 10 | |
C1836296 | Weakness of lower limb | 27 | |
C0014836 | Escherichia coli Infections | 4 | |
C0037301 | Skin Wrinkling | 7 | |
C0751617 | Semilobar Holoprosencephaly | 14 | |
C1960469 | Left ventricular noncompaction | 14 | |
C1398325 | Absent auditory canals | 23 | |
C0042721 | Viral hepatitis | 4 | |
C2931875 | Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | 7 | |
C0033687 | Proteinuria | 120 | |
C1866010 | Proximal muscle weakness in lower limbs | 5 | |
C4020889 | Cornela disease | 6 | |
C4020888 | Epithelial corneal erosions | 12 | |
C4020887 | Photodysphoria | 122 | |
C4020886 | Defective or absent horizontal voluntary eye movements | 25 | |
C4020884 | Anxiety disease | 106 | |
C4020883 | Hypoplastic sternum | 5 | |
C4048268 | Cortical visual impairment | 17 | |
C4020880 | Ruddy face | 4 | |
C0728829 | Congenital pes cavus | 88 | |
C4280476 | Increased bone density in skeletal bones | 5 | |
C0948585 | Hydroxyprolinuria | 7 | |
C0033975 | Psychotic Disorders | 150 | |
C1858656 | Short Stature, Idiopathic, Autosomal | 4 | |
C1837658 | Gross motor development delay | 21 | |
C4022012 | Death in early adulthood | 17 | |
C4022018 | Telangiectasia of the skin | 39 | |
C1860344 | Hypoplastic iris stoma | 4 | |
C0856975 | Autistic behavior | 20 | |
C0685695 | Abnormal lung lobation | 10 | |
C0553706 | SERUM PHOSPHATE ELEVATED | 14 | |
C0242231 | Coronary Stenosis | 7 | |
C0265338 | Coffin-Siris syndrome | 7 | |
C0265334 | Pachyonychia Congenita | 4 | |
C1852464 | Cervical vertebral abnormalities | 6 | |
C0948387 | Secondary Adrenal Insufficiency | 6 | |
C0010520 | Cyanosis | 17 | |
C1631597 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) | 7 | |
C0016045 | fibroma | 4 | |
C0431483 | Simple ear | 41 | |
C2674432 | Decreased bone mineral density Z score | 31 | |
C2718128 | Nasal inflammation | 7 | |
C0860439 | Mottled pigmentation | 4 | |
C0266463 | Lissencephaly | 15 | |
C1866021 | Increased connective tissue | 7 | |
C0266464 | Polymicrogyria | 48 | |
C1839039 | Highly variable clinical phenotype | 151 | |
C0155552 | Hearing Loss, Mixed Conductive-Sensorineural | 12 | |
C0035828 | Romano-Ward Syndrome | 14 | |
C0026837 | Muscle Rigidity | 49 | |
C1879312 | Agyria | 15 | |
C2700553 | Omenn Syndrome | 8 | |
C1853737 | Prominent occiput | 21 | |
C0240896 | Fundus coloboma | 18 | |
C0240897 | Retinal exudates | 11 | |
C1853738 | Long eyelashes | 37 | |
C1842003 | Subclinical abnormal liver function tests | 80 | |
C0575535 | Thin clavicle | 4 | |
C4275179 | Young onset Parkinson disease | 10 | |
C1695776 | Vertebral wedging | 4 | |
C4280288 | Red and sore lips | 5 | |
C1858729 | Decreased motor NCV | 22 | |
C0152021 | Congenital heart disease | 24 | |
C0276226 | Herpes encephalitis | 6 | |
C0152025 | Polyneuropathy | 28 | |
C0037293 | Skin tag | 10 | |
C0162872 | Aortic Aneurysm, Thoracic | 8 | |
C0162871 | Aortic Aneurysm, Abdominal | 9 | |
C0010200 | Coughing | 24 | |
C0431368 | Partial agenesis of corpus callosum | 9 | |
C0028945 | oligodendroglioma | 7 | |
C0028949 | Oligomenorrhea | 17 | |
C3553754 | Absent toes | 4 | |
C0086437 | Joint laxity | 53 | |
C0022638 | Ketosis | 10 | |
C0086438 | Hypogammaglobulinemia | 35 | |
C0086439 | Hypokinesia | 19 |
ID | Description | # Genes | Add |
---|---|---|---|
HP:0003565 | Elevated erythrocyte sedimentation rate | 24 | |
HP:0003563 | Decreased circulating low-density lipoprotein levels | 8 | |
HP:0003560 | Muscular dystrophy | 58 | |
HP:0003561 | Birth length less than 3rd percentile | 8 | |
HP:0003298 | Spina bifida occulta | 23 | |
HP:0003292 | Decreased serum leptin | 8 | |
HP:0012397 | Aortic atherosclerosis | 8 | |
HP:0011400 | Abnormal CNS myelination | 4 | |
HP:0011151 | Obtundation status | 8 | |
HP:0009879 | Cortical gyral simplification | 25 | |
HP:0002164 | Nail dysplasia | 61 | |
HP:0002167 | Neurological speech impairment | 75 | |
HP:0002166 | Impaired vibration sensation in the lower limbs | 16 | |
HP:0002160 | Hyperhomocystinemia | 7 | |
HP:0002162 | Low posterior hairline | 66 | |
HP:0002169 | Clonus | 21 | |
HP:0002168 | Scanning speech | 12 | |
HP:0006660 | Aplastic clavicles | 15 | |
HP:0006597 | Diaphragmatic paralysis | 5 | |
HP:0200125 | Mitochondrial respiratory chain defects | 7 | |
HP:0006009 | Broad phalanx | 5 | |
HP:0005294 | Arterial dissection | 5 | |
HP:0005293 | Venous insufficiency | 4 | |
HP:0008187 | Absence of secondary sex characteristics | 27 | |
HP:0008186 | Adrenocortical cytomegaly | 4 | |
HP:0008180 | Mildly elevated creatine phosphokinase | 26 | |
HP:0009592 | Astrocytoma | 11 | |
HP:0000408 | Progressive sensorineural hearing impairment | 24 | |
HP:0000158 | Macroglossia | 86 | |
HP:0000400 | Macrotia | 132 | |
HP:0000153 | Abnormality of the mouth | 16 | |
HP:0000402 | Stenosis of the external auditory canal | 17 | |
HP:0000151 | Aplasia of the uterus | 5 | |
HP:0000405 | Conductive hearing impairment | 177 | |
HP:0000154 | Wide mouth | 99 | |
HP:0000155 | Oral ulcer | 19 | |
HP:0100639 | Erectile abnormalities | 22 | |
HP:0011362 | Abnormal hair quantity | 20 | |
HP:0100633 | Esophagitis | 13 | |
HP:0008233 | Decreased circulating progesterone | 5 | |
HP:0008232 | Elevated circulating follicle stimulating hormone level | 22 | |
HP:0008230 | Decreased testosterone in males | 35 | |
HP:0009046 | Difficulty running | 17 | |
HP:0009042 | Marked muscular hypertrophy | 4 | |
HP:0011098 | Speech apraxia | 5 | |
HP:0011094 | Overbite | 4 | |
HP:0011097 | Epileptic spasms | 5 | |
HP:0011096 | Peripheral demyelination | 22 | |
HP:0012245 | Sex reversal | 12 | |
HP:0012244 | Abnormal sex determination | 13 | |
HP:0003179 | Protrusio acetabuli | 8 | |
HP:0003173 | Hypoplastic pubic bone | 8 | |
HP:0003175 | Hypoplastic ischia | 13 | |
HP:0003177 | Squared iliac bones | 4 | |
HP:0002370 | Poor coordination | 13 | |
HP:0002371 | Loss of speech | 22 | |
HP:0002373 | Febrile seizures | 18 | |
HP:0002375 | Hypokinesia | 20 | |
HP:0002804 | Arthrogryposis multiplex congenita | 72 | |
HP:0002378 | Hand tremor | 6 | |
HP:0002808 | Kyphosis | 149 | |
HP:0100545 | Arterial stenosis | 8 | |
HP:0006279 | Beta-cell dysfunction | 5 | |
HP:0006274 | Reduced pancreatic beta cells | 7 | |
HP:0006277 | Pancreatic hyperplasia | 4 | |
HP:0000574 | Thick eyebrow | 71 | |
HP:0006695 | Atrioventricular canal defect | 21 | |
HP:0009601 | Aplasia/Hypoplasia of the thumb | 14 | |
HP:0012311 | Monocytosis | 4 | |
HP:0007270 | Atypical absence seizures | 6 | |
HP:0007271 | Occipital myelomeningocele | 9 | |
HP:0008956 | Proximal lower limb amyotrophy | 4 | |
HP:0006498 | Aplasia/Hypoplasia of the patella | 16 | |
HP:0006492 | Aplasia/Hypoplasia of the fibula | 5 | |
HP:0006495 | Aplasia/Hypoplasia of the ulna | 5 | |
HP:0004050 | Absent hand | 7 | |
HP:0003005 | Ganglioneuroma | 7 | |
HP:0001723 | Restrictive cardiomyopathy | 5 | |
HP:0001052 | Nevus flammeus | 19 | |
HP:0001053 | Hypopigmented skin patches | 71 | |
HP:0001054 | Numerous nevi | 5 | |
HP:0001056 | Milia | 17 | |
HP:0001057 | Aplasia cutis congenita | 17 | |
HP:0001058 | Poor wound healing | 8 | |
HP:0003006 | Neuroblastoma | 6 | |
HP:0000022 | Abnormality of male internal genitalia | 5 | |
HP:0000059 | Hypoplastic labia majora | 27 | |
HP:0000023 | Inguinal hernia | 113 | |
HP:0000752 | Hyperactivity | 78 | |
HP:0100842 | Septo-optic dysplasia | 12 | |
HP:0100840 | Aplasia/Hypoplasia of the eyebrow | 44 | |
HP:0000026 | Male hypogonadism | 29 | |
HP:0000756 | Agoraphobia | 4 | |
HP:0000757 | Lack of insight | 11 | |
HP:0000237 | Small anterior fontanelle | 4 | |
HP:0000892 | Bifid ribs | 4 | |
HP:0000891 | Cervical ribs | 4 | |
HP:0000890 | Long clavicles | 7 | |
HP:0000233 | Thin vermilion border | 67 | |
HP:0000232 | Everted lower lip vermilion | 86 | |
HP:0000895 | Lateral clavicle hook | 7 | |
HP:0000894 | Short clavicles | 21 | |
HP:0000239 | Large fontanelles | 59 | |
HP:0000238 | Hydrocephalus | 138 | |
HP:0003764 | Nevus | 19 | |
HP:0003765 | Psoriasiform dermatitis | 6 | |
HP:0003761 | Calcinosis | 6 | |
HP:0003762 | Uterus didelphys | 7 | |
HP:0003763 | Bruxism | 6 | |
HP:0001946 | Ketosis | 12 | |
HP:0001947 | Renal tubular acidosis | 11 | |
HP:0001944 | Dehydration | 46 | |
HP:0001945 | Fever | 119 | |
HP:0001942 | Metabolic acidosis | 58 | |
HP:0001943 | Hypoglycemia | 108 | |
HP:0001949 | Hypokalemic alkalosis | 4 | |
HP:0000099 | Glomerulonephritis | 5 | |
HP:0000098 | Tall stature | 43 | |
HP:0000093 | Proteinuria | 112 | |
HP:0000092 | Tubular atrophy | 15 | |
HP:0000091 | Abnormality of the renal tubule | 9 | |
HP:0000090 | Nephronophthisis | 28 | |
HP:0000097 | Focal segmental glomerulosclerosis | 25 | |
HP:0000096 | Glomerulosclerosis | 19 | |
HP:0003481 | Segmental peripheral demyelination/remyelination | 10 | |
HP:0002495 | Impaired vibratory sensation | 10 | |
HP:0002494 | Abnormal rapid eye movement sleep | 8 | |
HP:0002497 | Spastic ataxia | 10 | |
HP:0002490 | Increased CSF lactate | 58 | |
HP:0003548 | Subsarcolemmal accumulations of abnormally shaped mitochondria | 5 | |
HP:0003819 | Death in childhood | 21 | |
HP:0011423 | Hyperchloremia | 4 | |
HP:0003812 | Phenotypic variability | 211 | |
HP:0003542 | Increased serum pyruvate | 10 | |
HP:0003811 | Neonatal death | 15 | |
HP:0003546 | Exercise intolerance | 71 | |
HP:0003547 | Shoulder girdle muscle weakness | 13 | |
HP:0002149 | Hyperuricemia | 14 | |
HP:0002148 | Hypophosphatemia | 23 | |
HP:0002630 | Fat malabsorption | 5 | |
HP:0002633 | Vasculitis | 24 | |
HP:0002144 | Tethered cord | 7 | |
HP:0002634 | Arteriosclerosis | 6 | |
HP:0002141 | Gait imbalance | 20 | |
HP:0002140 | Ischemic stroke | 4 | |
HP:0100543 | Cognitive impairment | 146 | |
HP:0100540 | Palpebral edema | 16 | |
HP:0007042 | Focal white matter lesions | 5 | |
HP:0007513 | Generalized hypopigmentation | 13 | |
HP:0008724 | Hypoplasia of the ovary | 44 | |
HP:0008726 | Hypoplasia of the vagina | 17 | |
HP:0008890 | Severe short-limb dwarfism | 5 | |
HP:0008897 | Postnatal growth retardation | 83 | |
HP:0012763 | Paroxysmal dyspnea | 14 | |
HP:0025092 | Epidermal acanthosis | 34 | |
HP:0006644 | Thoracic dysplasia | 6 | |
HP:0006394 | Limited pronation/supination of forearm | 6 | |
HP:0200102 | Sparse or absent eyelashes | 12 | |
HP:0000399 | Prelingual sensorineural hearing impairment | 7 | |
HP:0000391 | Thickened helices | 23 | |
HP:0000394 | Lop ear | 5 | |
HP:0000395 | Prominent antihelix | 6 | |
HP:0000396 | Overfolded helix | 31 | |
HP:0004722 | Thickening of the glomerular basement membrane | 7 | |
HP:0001558 | Decreased fetal movement | 72 | |
HP:0001551 | Abnormality of the umbilicus | 4 | |
HP:0001552 | Barrel-shaped chest | 16 | |
HP:0001555 | Asymmetry of the thorax | 4 | |
HP:0000179 | Thick lower lip vermilion | 77 | |
HP:0000174 | Abnormality of the palate | 24 | |
HP:0000175 | Cleft palate | 228 | |
HP:0000177 | Abnormality of upper lip | 5 | |
HP:0000171 | Microglossia | 10 | |
HP:0011304 | Broad thumb | 42 | |
HP:0004097 | Deviation of finger | 4 | |
HP:0000138 | Ovarian cyst | 8 | |
HP:0004099 | Macrodactyly | 5 | |
HP:0003150 | Glutaric aciduria | 8 | |
HP:0003155 | Elevated alkaline phosphatase | 43 | |
HP:0003154 | Increased circulating ACTH level | 10 | |
HP:0003159 | Hyperoxaluria | 5 | |
HP:0003158 | Hyposthenuria | 5 | |
HP:0002827 | Hip dislocation | 64 | |
HP:0002823 | Abnormality of femur morphology | 7 | |
HP:0002828 | Multiple joint contractures | 10 | |
HP:0002829 | Arthralgia | 104 | |
HP:0006254 | Elevated alpha-fetoprotein | 5 | |
HP:0012157 | Subcortical cerebral atrophy | 6 | |
HP:0012156 | Hemophagocytosis | 5 | |
HP:0009623 | Proximal placement of thumb | 22 | |
HP:0030074 | Chemodectoma | 4 | |
HP:0007703 | Abnormality of retinal pigmentation | 162 | |
HP:0012377 | Hemianopia | 13 | |
HP:0007704 | Paroxysmal involuntary eye movements | 6 | |
HP:0007256 | Abnormal pyramidal signs | 47 | |
HP:0012379 | Abnormal enzyme/coenzyme activity | 8 | |
HP:0012378 | Fatigue | 223 | |
HP:0008972 | Decreased activity of mitochondrial respiratory chain | 6 | |
HP:0001704 | Tricuspid valve prolapse | 5 | |
HP:0001706 | Endocardial fibroelastosis | 5 | |
HP:0000496 | Abnormality of eye movement | 23 | |
HP:0000493 | Abnormal foveal morphology | 6 | |
HP:0002064 | Spastic gait | 33 | |
HP:0000276 | Long face | 106 | |
HP:0030406 | Primary peritoneal carcinoma | 14 | |
HP:0000679 | Taurodontia | 21 | |
HP:0005622 | Broad long bones | 6 | |
HP:0005625 | Osteoporosis of vertebrae | 7 | |
HP:0001960 | Hypokalemic metabolic alkalosis | 4 | |
HP:0001962 | Palpitations | 39 | |
HP:0001967 | Diffuse mesangial sclerosis | 9 | |
HP:0004378 | Abnormality of the anus | 8 | |
HP:0007655 | Eversion of lateral third of lower eyelids | 4 | |
HP:0003707 | Calf muscle pseudohypertrophy | 5 | |
HP:0003700 | Generalized amyotrophy | 28 | |
HP:0003701 | Proximal muscle weakness | 68 | |
HP:0000618 | Blindness | 153 | |
HP:0000610 | Abnormal choroid morphology | 9 | |
HP:0000613 | Photophobia | 179 | |
HP:0000612 | Iris coloboma | 56 | |
HP:0000615 | Abnormal pupil morphology | 6 | |
HP:0000614 | Abnormal morphology of the nasolacrimal system | 11 | |
HP:0000616 | Miosis | 7 | |
HP:0011448 | Ankle clonus | 17 | |
HP:0011449 | Knee clonus | 6 | |
HP:0004283 | Narrow palm | 10 | |
HP:0002613 | Biliary cirrhosis | 17 | |
HP:0002612 | Congenital hepatic fibrosis | 26 | |
HP:0002611 | Cholestatic liver disease | 7 | |
HP:0002616 | Aortic root aneurysm | 17 | |
HP:0002615 | Hypotension | 37 | |
HP:0002619 | Varicose veins | 11 | |
HP:0100560 | Upper limb asymmetry | 4 | |
HP:0100569 | Abnormal vertebral ossification | 5 | |
HP:0001283 | Bulbar palsy | 26 | |
HP:0007392 | Excessive wrinkled skin | 24 | |
HP:0012745 | Short palpebral fissure | 66 | |
HP:0012740 | Papilloma | 17 | |
HP:0012743 | Abdominal obesity | 10 | |
HP:0006628 | Absent sternal ossification | 5 | |
HP:0004918 | Hyperchloremic metabolic acidosis | 8 | |
HP:0004912 | Hypophosphatemic rickets | 12 | |
HP:0001399 | Hepatic failure | 85 | |
HP:0001397 | Hepatic steatosis | 61 | |
HP:0001396 | Cholestasis | 25 | |
HP:0001395 | Hepatic fibrosis | 49 | |
HP:0001394 | Cirrhosis | 67 | |
HP:0001392 | Abnormality of the liver | 23 | |
HP:0000377 | Abnormality of the pinna | 60 | |
HP:0000375 | Abnormal cochlea morphology | 10 | |
HP:0000378 | Cupped ear | 25 | |
HP:0004870 | Chronic hemolytic anemia | 5 | |
HP:0001572 | Macrodontia | 4 | |
HP:0001575 | Mood changes | 6 | |
HP:0001574 | Abnormality of the integument | 4 | |
HP:0001579 | Primary hypercorticolism | 4 | |
HP:0000114 | Proximal tubulopathy | 9 | |
HP:0000112 | Nephropathy | 46 | |
HP:0000113 | Polycystic kidney dysplasia | 26 | |
HP:0000110 | Renal dysplasia | 32 | |
HP:0000119 | Abnormality of the genitourinary system | 7 | |
HP:0004749 | Atrial flutter | 5 | |
HP:0010636 | Schizencephaly | 6 | |
HP:0010639 | Elevated alkaline phosphatase of bone origin | 4 | |
HP:0011858 | Reduced factor IX activity | 4 | |
HP:0003134 | Abnormality of peripheral nerve conduction | 8 | |
HP:0003137 | Prolinuria | 6 | |
HP:0003131 | Cystinuria | 5 | |
HP:0003139 | Panhypogammaglobulinemia | 10 | |
HP:0002849 | Absence of lymph node germinal center | 4 | |
HP:0002842 | Recurrent Burkholderia cepacia infections | 4 | |
HP:0002840 | Lymphadenitis | 4 | |
HP:0002841 | Recurrent fungal infections | 16 | |
HP:0010984 | Digenic inheritance | 7 | |
HP:0010454 | Acetabular spurs | 4 | |
HP:0010450 | Esophageal stenosis | 11 | |
HP:0000224 | Decreased taste sensation | 6 | |
HP:0010458 | Female pseudohermaphroditism | 7 | |
HP:0000889 | Abnormality of the clavicle | 24 | |
HP:0000887 | Cupped ribs | 4 | |
HP:0002232 | Patchy alopecia | 8 | |
HP:0002269 | Abnormality of neuronal migration | 42 | |
HP:0002266 | Focal clonic seizures | 10 | |
HP:0002267 | Exaggerated startle response | 10 | |
HP:0002265 | Large fleshy ears | 8 | |
HP:0012174 | Glioblastoma multiforme | 12 | |
HP:0000150 | Gonadoblastoma | 8 | |
HP:0000403 | Recurrent otitis media | 58 | |
HP:0005435 | Impaired T cell function | 18 | |
HP:0030056 | Uncombable hair | 4 | |
HP:0030053 | Stiff skin | 5 | |
HP:0008915 | Childhood-onset truncal obesity | 5 | |
HP:0011869 | Abnormal platelet function | 14 | |
HP:0001765 | Hammertoe | 33 | |
HP:0001762 | Talipes equinovarus | 164 | |
HP:0001763 | Pes planus | 102 | |
HP:0001760 | Abnormality of the foot | 37 | |
HP:0001761 | Pes cavus | 126 | |
HP:0011364 | White hair | 7 | |
HP:0001188 | Hand clenching | 9 | |
HP:0001182 | Tapered finger | 49 | |
HP:0001180 | Hand oligodactyly | 8 | |
HP:0001181 | Adducted thumb | 32 | |
HP:0001187 | Hyperextensibility of the finger joints | 12 | |
HP:0005640 | Abnormal vertebral segmentation and fusion | 10 | |
HP:0001982 | Sea-blue histiocytosis | 5 | |
HP:0001980 | Megaloblastic bone marrow | 4 | |
HP:0001987 | Hyperammonemia | 36 | |
HP:0001985 | Hypoketotic hypoglycemia | 14 | |
HP:0001988 | Recurrent hypoglycemia | 8 | |
HP:0001989 | Fetal akinesia sequence | 15 | |
HP:0000589 | Coloboma | 46 | |
HP:0000588 | Optic nerve coloboma | 13 | |
HP:0000581 | Blepharophimosis | 82 | |
HP:0000580 | Pigmentary retinopathy | 87 | |
HP:0000582 | Upslanted palpebral fissure | 123 | |
HP:0000585 | Band keratopathy | 6 | |
HP:0000587 | Abnormality of the optic nerve | 8 | |
HP:0000586 | Shallow orbits | 17 | |
HP:0008357 | Reduced factor XIII activity | 5 | |
HP:0003722 | Neck flexor weakness | 9 | |
HP:0003724 | Shoulder girdle muscle atrophy | 9 | |
HP:0002982 | Tibial bowing | 24 | |
HP:0002980 | Femoral bowing | 26 | |
HP:0002987 | Elbow flexion contracture | 46 | |
HP:0002986 | Radial bowing | 16 | |
HP:0002984 | Hypoplasia of the radius | 27 | |
HP:0000632 | Lacrimation abnormality | 5 | |
HP:0000637 | Long palpebral fissure | 24 | |
HP:0000636 | Upper eyelid coloboma | 5 | |
HP:0000635 | Blue irides | 18 | |
HP:0000639 | Nystagmus | 476 | |
HP:0011462 | Young adult onset | 7 | |
HP:0011463 | Childhood onset | 49 | |
HP:0003584 | Late onset | 10 | |
HP:0003587 | Insidious onset | 10 | |
HP:0003581 | Adult onset | 104 | |
HP:0002671 | Basal cell carcinoma | 26 | |
HP:0002673 | Coxa valga | 33 | |
HP:0030260 | Microphallus | 6 | |
HP:0002678 | Skull asymmetry | 5 | |
HP:0007002 | Motor axonal neuropathy | 5 | |
HP:0030195 | Fatigable weakness of swallowing muscles | 36 | |
HP:0030196 | Fatigable weakness of respiratory muscles | 35 | |
HP:0002189 | Excessive daytime sleepiness | 15 | |
HP:0002188 | Delayed CNS myelination | 12 | |
HP:0002183 | Phonophobia | 12 | |
HP:0002181 | Cerebral edema | 33 | |
HP:0002180 | Neurodegeneration | 59 | |
HP:0002187 | Intellectual disability, profound | 54 | |
HP:0002186 | Apraxia | 31 | |
HP:0002185 | Neurofibrillary tangles | 15 | |
HP:0012726 | Episodic hypokalemia | 5 | |
HP:0200146 | Cystic medial necrosis of the aorta | 14 | |
HP:0004935 | Pulmonary artery atresia | 13 | |
HP:0004936 | Venous thrombosis | 31 | |
HP:0004933 | Ascending aortic dissection | 14 | |
HP:0001371 | Flexion contracture | 133 | |
HP:0001373 | Joint dislocation | 37 | |
HP:0001374 | Congenital hip dislocation | 30 | |
HP:0001377 | Limited elbow extension | 19 | |
HP:0001376 | Limitation of joint mobility | 64 | |
HP:0000356 | Abnormality of the outer ear | 6 | |
HP:0005180 | Tricuspid regurgitation | 7 | |
HP:0005181 | Premature coronary artery atherosclerosis | 9 | |
HP:0008163 | Decreased circulating cortisol level | 13 | |
HP:0000358 | Posteriorly rotated ears | 111 | |
HP:0004859 | Amegakaryocytic thrombocytopenia | 6 | |
HP:0001511 | Intrauterine growth retardation | 269 | |
HP:0001510 | Growth delay | 167 | |
HP:0001513 | Obesity | 172 | |
HP:0001519 | Disproportionate tall stature | 14 | |
HP:0001518 | Small for gestational age | 91 | |
HP:0100699 | Scarring | 6 | |
HP:0100697 | Neurofibrosarcoma | 4 | |
HP:0004586 | Biconcave vertebral bodies | 13 | |
HP:0005328 | Progeroid facial appearance | 11 | |
HP:0010610 | Palmar pits | 4 | |
HP:0010612 | Plantar pits | 4 | |
HP:0005453 | Absent/hypoplastic paranasal sinuses | 5 | |
HP:0000134 | Female hypogonadism | 24 | |
HP:0000135 | Hypogonadism | 157 | |
HP:0000136 | Bifid uterus | 5 | |
HP:0003448 | Decreased sensory nerve conduction velocity | 12 | |
HP:0003119 | Abnormality of lipid metabolism | 10 | |
HP:0003118 | Increased circulating cortisol level | 7 | |
HP:0004325 | Decreased body weight | 33 | |
HP:0004324 | Increased body weight | 6 | |
HP:0003447 | Axonal loss | 10 | |
HP:0004326 | Cachexia | 36 | |
HP:0002860 | Squamous cell carcinoma | 20 | |
HP:0002861 | Melanoma | 21 | |
HP:0002863 | Myelodysplasia | 21 | |
HP:0002864 | Paraganglioma of head and neck | 12 | |
HP:0002866 | Hypoplastic iliac wing | 21 | |
HP:0002803 | Congenital contracture | 15 | |
HP:0002868 | Narrow iliac wings | 7 | |
HP:0002376 | Developmental regression | 135 | |
HP:0011877 | Increased mean platelet volume | 6 | |
HP:0011875 | Abnormal platelet morphology | 9 | |
HP:0002248 | Hematemesis | 4 | |
HP:0002245 | Meckel diverticulum | 5 | |
HP:0002247 | Duodenal atresia | 7 | |
HP:0002240 | Hepatomegaly | 321 | |
HP:0002242 | Abnormal intestine morphology | 8 | |
HP:0012115 | Hepatitis | 10 | |
HP:0012114 | Endometrial carcinoma | 6 | |
HP:0012110 | Hypoplasia of the pons | 13 | |
HP:0012113 | Abnormality of creatine metabolism | 4 | |
HP:0002623 | Overriding aorta | 4 | |
HP:0011703 | Sinus tachycardia | 14 | |
HP:0011705 | First degree atrioventricular block | 5 | |
HP:0011704 | Sick sinus syndrome | 4 | |
HP:0002621 | Atherosclerosis | 11 | |
HP:0000225 | Gingival bleeding | 20 | |
HP:0002155 | Hypertriglyceridemia | 46 | |
HP:0007210 | Lower limb amyotrophy | 5 | |
HP:0100335 | Non-midline cleft lip | 6 | |
HP:0100333 | Unilateral cleft lip | 4 | |
HP:0001741 | Phimosis | 4 | |
HP:0001742 | Nasal obstruction | 5 | |
HP:0001743 | Abnormality of the spleen | 15 | |
HP:0001744 | Splenomegaly | 226 | |
HP:0001746 | Asplenia | 10 | |
HP:0001747 | Accessory spleen | 9 | |
HP:0001748 | Polysplenia | 10 | |
HP:0000033 | Ambiguous genitalia, male | 9 | |
HP:0007502 | Follicular hyperkeratosis | 14 | |
HP:0000742 | Self-mutilation | 18 | |
HP:0007957 | Corneal opacity | 72 | |
HP:0000741 | Apathy | 20 | |
HP:0000740 | Episodic paroxysmal anxiety | 12 | |
HP:0000831 | Insulin-resistant diabetes mellitus | 16 | |
HP:0000830 | Anterior hypopituitarism | 24 | |
HP:0000833 | Glucose intolerance | 16 | |
HP:0000835 | Adrenal hypoplasia | 11 | |
HP:0000836 | Hyperthyroidism | 6 | |
HP:0000839 | Pituitary dwarfism | 4 | |
HP:0010280 | Stomatitis | 4 | |
HP:0008331 | Elevated creatine kinase after exercise | 4 | |
HP:0010864 | Intellectual disability, severe | 153 | |
HP:0000655 | Vitreoretinal degeneration | 10 | |
HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 14 | |
HP:0000657 | Oculomotor apraxia | 48 | |
HP:0000656 | Ectropion | 29 | |
HP:0000651 | Diplopia | 15 | |
HP:0000653 | Sparse eyelashes | 46 | |
HP:0000659 | Peters anomaly | 13 | |
HP:0000544 | External ophthalmoplegia | 13 | |
HP:0100520 | Oliguria | 5 | |
HP:0008743 | Coronal hypospadias | 4 | |
HP:0007021 | Pain insensitivity | 6 | |
HP:0002478 | Progressive spastic quadriplegia | 4 | |
HP:0002472 | Small cerebral cortex | 6 | |
HP:0002476 | Primitive reflex | 9 | |
HP:0002475 | Myelomeningocele | 9 | |
HP:0002474 | Expressive language delay | 5 | |
HP:0003309 | Ovoid thoracolumbar vertebrae | 4 | |
HP:0003302 | Spondylolisthesis | 8 | |
HP:0003300 | Ovoid vertebral bodies | 22 | |
HP:0003301 | Irregular vertebral endplates | 19 | |
HP:0003306 | Spinal rigidity | 21 | |
HP:0003307 | Hyperlordosis | 78 | |
HP:0003304 | Spondylolysis | 5 | |
HP:0003305 | Block vertebrae | 4 | |
HP:0002659 | Increased susceptibility to fractures | 26 | |
HP:0002657 | Spondylometaphyseal dysplasia | 8 | |
HP:0002656 | Epiphyseal dysplasia | 19 | |
HP:0002655 | Spondyloepiphyseal dysplasia | 8 | |
HP:0002654 | Multiple epiphyseal dysplasia | 7 | |
HP:0002653 | Bone pain | 48 | |
HP:0002652 | Skeletal dysplasia | 77 | |
HP:0002651 | Spondyloepimetaphyseal dysplasia | 11 | |
HP:0002650 | Scoliosis | 392 | |
HP:0007688 | Undetectable light- and dark-adapted electroretinogram | 8 | |
HP:0006376 | Limited elbow flexion | 4 | |
HP:0007973 | Retinal dysplasia | 17 | |
HP:0006089 | Palmar hyperhidrosis | 5 | |
HP:0012251 | ST segment elevation | 5 | |
HP:0012256 | Absent outer dynein arms | 4 | |
HP:0006886 | Impaired distal vibration sensation | 6 | |
HP:0006887 | Intellectual disability, progressive | 43 | |
HP:0006888 | Meningoencephalocele | 5 | |
HP:0004950 | Peripheral arterial stenosis | 12 | |
HP:0001350 | Slurred speech | 15 | |
HP:0001357 | Plagiocephaly | 24 | |
HP:0001355 | Megalencephaly | 11 | |
HP:0001685 | Myocardial fibrosis | 4 | |
HP:0001684 | Secundum atrial septal defect | 5 | |
HP:0001681 | Angina pectoris | 15 | |
HP:0001680 | Coarctation of aorta | 39 | |
HP:0001682 | Subvalvular aortic stenosis | 10 | |
HP:0001688 | Sinus bradycardia | 5 | |
HP:0001539 | Omphalocele | 24 | |
HP:0001538 | Protuberant abdomen | 18 | |
HP:0001537 | Umbilical hernia | 105 | |
HP:0001533 | Slender build | 15 | |
HP:0030830 | Rales | 13 | |
HP:0001530 | Mild postnatal growth retardation | 6 | |
HP:0000338 | Hypomimic face | 11 | |
HP:0000336 | Prominent supraorbital ridges | 28 | |
HP:0000337 | Broad forehead | 92 | |
HP:0000331 | Short chin | 19 | |
HP:0000316 | Hypertelorism | 363 | |
HP:0003689 | Multiple mitochondrial DNA deletions | 6 | |
HP:0003688 | Cytochrome C oxidase-negative muscle fibers | 18 | |
HP:0003687 | Centrally nucleated skeletal muscle fibers | 16 | |
HP:0003683 | Large beaked nose | 5 | |
HP:0003680 | Nonprogressive | 16 | |
HP:0001829 | Foot polydactyly | 16 | |
HP:0001821 | Broad nail | 8 | |
HP:0001820 | Leukonychia | 7 | |
HP:0001822 | Hallux valgus | 30 | |
HP:0001824 | Weight loss | 103 | |
HP:0000480 | Retinal coloboma | 7 | |
HP:0000481 | Abnormal cornea morphology | 6 | |
HP:0000482 | Microcornea | 72 | |
HP:0000483 | Astigmatism | 42 | |
HP:0000485 | Megalocornea | 16 | |
HP:0000486 | Strabismus | 379 | |
HP:0000488 | Retinopathy | 42 | |
HP:0005305 | Cerebral venous thrombosis | 6 | |
HP:0005306 | Capillary hemangiomas | 13 | |
HP:0003468 | Abnormal vertebral morphology | 19 | |
HP:0011819 | Submucous cleft soft palate | 4 | |
HP:0002226 | White eyebrow | 7 | |
HP:0002227 | White eyelashes | 8 | |
HP:0002224 | Woolly hair | 17 | |
HP:0002225 | Sparse pubic hair | 38 | |
HP:0002223 | Absent eyebrow | 21 | |
HP:0002221 | Absent axillary hair | 6 | |
HP:0012133 | Erythroid hypoplasia | 4 | |
HP:0012132 | Erythroid hyperplasia | 5 | |
HP:0030018 | Decreased female libido | 4 | |
HP:0030019 | Increased female libido | 18 | |
HP:0030016 | Dyspareunia | 13 | |
HP:0007763 | Retinal telangiectasia | 4 | |
HP:0007766 | Optic disc hypoplasia | 20 | |
HP:0100315 | Lewy bodies | 6 | |
HP:0025175 | Honeycomb lung | 13 | |
HP:0025179 | Ground-glass opacification on pulmonary HRCT | 13 | |
HP:0045045 | Elevated plasma acylcarnitine levels | 4 | |
HP:0045040 | Abnormal lactate dehydrogenase activity | 20 | |
HP:0001051 | Seborrheic dermatitis | 17 | |
HP:3000062 | Abnormal internal carotid artery morphology | 6 | |
HP:0000407 | Sensorineural hearing impairment | 381 | |
HP:0001055 | Erysipelas | 5 | |
HP:0006149 | Increased laxity of fingers | 4 | |
HP:0000819 | Diabetes mellitus | 67 | |
HP:0000818 | Abnormality of the endocrine system | 10 | |
HP:0000813 | Bicornuate uterus | 16 | |
HP:0003401 | Paresthesia | 40 | |
HP:0000817 | Poor eye contact | 21 | |
HP:0000815 | Hypergonadotropic hypogonadism | 44 | |
HP:0008314 | Decreased activity of mitochondrial complex II | 4 | |
HP:0008316 | Abnormal mitochondria in muscle tissue | 26 | |
HP:0010804 | Tented upper lip vermilion | 37 | |
HP:0010807 | Open bite | 27 | |
HP:0010803 | Everted upper lip vermilion | 7 | |
HP:0000678 | Dental crowding | 57 | |
HP:0000677 | Oligodontia | 30 | |
HP:0000675 | Macrodontia of permanent maxillary central incisor | 4 | |
HP:0000674 | Anodontia | 5 | |
HP:0010808 | Protruding tongue | 16 | |
HP:0000670 | Carious teeth | 93 | |
HP:0030223 | Perseveration | 13 | |
HP:0003093 | Limited hip extension | 4 | |
HP:0003090 | Hypoplasia of the capital femoral epiphysis | 11 | |
HP:0003097 | Short femur | 12 | |
HP:0002419 | Molar tooth sign on MRI | 25 | |
HP:0002415 | Leukodystrophy | 46 | |
HP:0002414 | Spina bifida | 11 | |
HP:0002416 | Subependymal cysts | 5 | |
HP:0002411 | Myokymia | 6 | |
HP:0002410 | Aqueductal stenosis | 6 | |
HP:0003324 | Generalized muscle weakness | 80 | |
HP:0003325 | Limb-girdle muscle weakness | 14 | |
HP:0003326 | Myalgia | 73 | |
HP:0003327 | Axial muscle weakness | 7 | |
HP:0003323 | Progressive muscle weakness | 28 | |
HP:0006315 | Single median maxillary incisor | 6 | |
HP:0003100 | Slender long bone | 31 | |
HP:0004979 | Metaphyseal sclerosis | 5 | |
HP:0004970 | Ascending tubular aorta aneurysm | 5 | |
HP:0004975 | Erlenmeyer flask deformity of the femurs | 5 | |
HP:0004976 | Knee dislocation | 4 | |
HP:0004430 | Severe combined immunodeficiency | 15 | |
HP:0001339 | Lissencephaly | 42 | |
HP:0001338 | Partial agenesis of the corpus callosum | 13 | |
HP:0001335 | Bimanual synkinesia | 9 | |
HP:0001334 | Communicating hydrocephalus | 11 | |
HP:0001337 | Tremor | 133 | |
HP:0001336 | Myoclonus | 117 | |
HP:0001331 | Absent septum pellucidum | 34 | |
HP:0001332 | Dystonia | 137 | |
HP:0007401 | Macular atrophy | 9 | |
HP:0007400 | Irregular hyperpigmentation | 40 | |
HP:0009536 | Short 2nd finger | 7 | |
HP:0000311 | Round face | 65 | |
HP:0005144 | Left ventricular septal hypertrophy | 4 | |
HP:0000317 | Facial myokymia | 4 | |
HP:0000319 | Smooth philtrum | 63 | |
HP:0002937 | Hemivertebrae | 34 | |
HP:0001803 | Nail pits | 6 | |
HP:0001802 | Absent toenail | 10 | |
HP:0001800 | Hypoplastic toenails | 31 | |
HP:0001807 | Ridged nail | 15 | |
HP:0001806 | Onycholysis | 9 | |
HP:0001805 | Thick nail | 15 | |
HP:0001804 | Hypoplastic fingernail | 16 | |
HP:0001808 | Fragile nails | 18 | |
HP:0010655 | Epiphyseal stippling | 28 | |
HP:0005365 | Severe B lymphocytopenia | 5 | |
HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 4 | |
HP:0000893 | Bulging of the costochondral junction | 4 | |
HP:0012870 | Vanishing testis | 11 | |
HP:0100820 | Glomerulopathy | 13 | |
HP:0002750 | Delayed skeletal maturation | 180 | |
HP:0002751 | Kyphoscoliosis | 79 | |
HP:0005607 | Abnormal tracheobronchial morphology | 4 | |
HP:0002756 | Pathologic fracture | 23 | |
HP:0000230 | Gingivitis | 12 | |
HP:0002757 | Recurrent fractures | 70 | |
HP:0002206 | Pulmonary fibrosis | 35 | |
HP:0011830 | Abnormality of oral mucosa | 6 | |
HP:0002208 | Coarse hair | 44 | |
HP:0002209 | Sparse scalp hair | 59 | |
HP:0002758 | Osteoarthritis | 37 | |
HP:0002752 | Sparse bone trabeculae | 5 | |
HP:0002753 | Thin bony cortex | 12 | |
HP:0002202 | Pleural effusion | 7 | |
HP:0002204 | Pulmonary embolism | 9 | |
HP:0002205 | Recurrent respiratory infections | 204 | |
HP:0002754 | Osteomyelitis | 23 | |
HP:0005542 | Prolonged whole-blood clotting time | 4 | |
HP:0007359 | Focal seizures | 20 | |
HP:0000417 | Slender nose | 4 | |
HP:0011749 | Adrenocorticotropic hormone excess | 5 | |
HP:0011748 | Adrenocorticotropic hormone deficiency | 7 | |
HP:0000414 | Bulbous nose | 80 | |
HP:0000413 | Atresia of the external auditory canal | 38 | |
HP:0000144 | Decreased fertility | 44 | |
HP:0000411 | Protruding ear | 76 | |
HP:0005968 | Temperature instability | 5 | |
HP:0006121 | Acral ulceration leading to autoamputation of digits | 4 | |
HP:0000879 | Short sternum | 6 | |
HP:0000878 | 11 pairs of ribs | 9 | |
HP:0000875 | Episodic hypertension | 5 | |
HP:0000876 | Oligomenorrhea | 20 | |
HP:0000871 | Panhypopituitarism | 6 | |
HP:0000870 | Prolactin excess | 5 | |
HP:0000873 | Diabetes insipidus | 9 | |
HP:0000872 | Hashimoto thyroiditis | 4 | |
HP:0200034 | Papule | 60 | |
HP:0001476 | Delayed closure of the anterior fontanelle | 18 | |
HP:0000691 | Microdontia | 75 | |
HP:0000690 | Agenesis of maxillary lateral incisor | 4 | |
HP:0000692 | Misalignment of teeth | 14 | |
HP:0000695 | Natal tooth | 13 | |
HP:0000696 | Delayed eruption of permanent teeth | 8 | |
HP:0000699 | Diastema | 6 | |
HP:0000698 | Conical tooth | 14 | |
HP:0011195 | EEG with focal sharp slow waves | 5 | |
HP:0011998 | Postprandial hyperglycemia | 8 | |
HP:0011999 | Paranoia | 11 | |
HP:0002920 | Decreased circulating ACTH level | 14 | |
HP:0002922 | Increased CSF protein | 20 | |
HP:0002925 | Increased thyroid-stimulating hormone level | 11 | |
HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | 5 | |
HP:0003345 | Elevated urinary norepinephrine | 12 | |
HP:0003341 | Junctional split | 6 | |
HP:0003348 | Hyperalaninemia | 15 | |
HP:0002692 | Hypoplastic facial bones | 5 | |
HP:0002691 | Platybasia | 13 | |
HP:0002697 | Parietal foramina | 9 | |
HP:0002694 | Sclerosis of skull base | 7 | |
HP:0006335 | Persistence of primary teeth | 8 | |
HP:0012075 | Personality disorder | 11 | |
HP:0012213 | Decreased glomerular filtration rate | 7 | |
HP:0012210 | Abnormal renal morphology | 4 | |
HP:0012211 | Abnormal renal physiology | 5 | |
HP:0100297 | Increased endomysial connective tissue | 6 | |
HP:0001640 | Cardiomegaly | 53 | |
HP:0001315 | Reduced tendon reflexes | 49 | |
HP:0001642 | Pulmonic stenosis | 58 | |
HP:0001645 | Sudden cardiac death | 34 | |
HP:0001644 | Dilated cardiomyopathy | 78 | |
HP:0001646 | Abnormal aortic valve morphology | 11 | |
HP:0001649 | Tachycardia | 27 | |
HP:0001319 | Neonatal hypotonia | 97 | |
HP:0007420 | Spontaneous hematomas | 8 | |
HP:0007427 | Reticulated skin pigmentation | 7 | |
HP:0000992 | Cutaneous photosensitivity | 66 | |
HP:0000993 | Molluscoid pseudotumors | 6 | |
HP:0005162 | Left ventricular failure | 21 | |
HP:0000991 | Xanthomatosis | 7 | |
HP:0000998 | Hypertrichosis | 37 | |
HP:0004691 | 2-3 toe syndactyly | 33 | |
HP:0001864 | Clinodactyly of the 5th toe | 6 | |
HP:0001863 | Toe clinodactyly | 4 | |
HP:0001869 | Deep plantar creases | 9 | |
HP:0000194 | Open mouth | 63 | |
HP:0010109 | Short hallux | 18 | |
HP:0000190 | Abnormal oral frenulum morphology | 9 | |
HP:0002815 | Abnormality of the knee | 8 | |
HP:0003645 | Prolonged partial thromboplastin time | 13 | |
HP:0002599 | Head titubation | 4 | |
HP:0002591 | Polyphagia | 27 | |
HP:0002816 | Genu recurvatum | 16 | |
HP:0002595 | Ileus | 8 | |
HP:0003540 | Impaired platelet aggregation | 11 | |
HP:0000738 | Hallucinations | 38 | |
HP:0000739 | Anxiety | 141 | |
HP:0000733 | Stereotypy | 55 | |
HP:0000736 | Short attention span | 13 | |
HP:0000737 | Irritability | 85 | |
HP:0000734 | Disinhibition | 21 | |
HP:0008501 | Median cleft lip and palate | 9 | |
HP:0100721 | Mediastinal lymphadenopathy | 11 | |
HP:0011505 | Cystoid macular edema | 4 | |
HP:0004349 | Reduced bone mineral density | 40 | |
HP:0004348 | Abnormality of bone mineral density | 5 | |
HP:0009110 | Diaphragmatic eventration | 6 | |
HP:0009113 | Diaphragmatic weakness | 7 | |
HP:0004432 | Agammaglobulinemia | 14 | |
HP:0004437 | Cranial hyperostosis | 8 | |
HP:0002779 | Tracheomalacia | 17 | |
HP:0002777 | Tracheal stenosis | 9 | |
HP:0011761 | Pituitary null cell adenoma | 5 | |
HP:0011760 | Pituitary growth hormone cell adenoma | 8 | |
HP:0002145 | Frontotemporal dementia | 16 | |
HP:0001302 | Pachygyria | 81 | |
HP:0002637 | Cerebral ischemia | 18 | |
HP:0008994 | Proximal muscle weakness in lower limbs | 10 | |
HP:0001305 | Dandy-Walker malformation | 58 | |
HP:0000008 | Abnormality of female internal genitalia | 15 | |
HP:0007041 | Chronic lymphocytic meningitis | 4 | |
HP:0012531 | Pain | 47 | |
HP:0012534 | Dysesthesia | 10 | |
HP:0100541 | Femoral hernia | 10 | |
HP:0000002 | Abnormality of body height | 18 | |
HP:0006109 | Absent phalangeal crease | 6 | |
HP:0000857 | Neonatal insulin-dependent diabetes mellitus | 9 | |
HP:0000855 | Insulin resistance | 26 | |
HP:0000854 | Thyroid adenoma | 10 | |
HP:0000853 | Goiter | 21 | |
HP:0000852 | Pseudohypoparathyroidism | 5 | |
HP:0000851 | Congenital hypothyroidism | 14 | |
HP:0000859 | Hyperaldosteronism | 17 | |
HP:0000858 | Menstrual irregularities | 7 | |
HP:0009473 | Joint contracture of the hand | 38 | |
HP:0001102 | Angioid streaks of the fundus | 7 | |
HP:0001103 | Abnormal macular morphology | 6 | |
HP:0001100 | Heterochromia iridis | 11 | |
HP:0001107 | Ocular albinism | 15 | |
HP:0001104 | Macular hypoplasia | 4 | |
HP:0001105 | Retinal atrophy | 12 | |
HP:0001450 | Y-linked inheritance | 16 | |
HP:0000501 | Glaucoma | 173 | |
HP:0005750 | Contractures of the joints of the lower limbs | 9 | |
HP:0000505 | Visual impairment | 243 | |
HP:0000504 | Abnormality of vision | 46 | |
HP:0000506 | Telecanthus | 95 | |
HP:0000509 | Conjunctivitis | 39 | |
HP:0000508 | Ptosis | 304 | |
HP:0005758 | Basilar impression | 4 | |
HP:0011970 | Cerebral amyloid angiopathy | 5 | |
HP:0011971 | Dermatographic urticaria | 9 | |
HP:0011976 | Elevated urinary catecholamines | 8 | |
HP:0011974 | Myelofibrosis | 9 | |
HP:0011979 | Elevated urinary dopamine | 13 | |
HP:0002909 | Generalized aminoaciduria | 9 | |
HP:0002908 | Conjugated hyperbilirubinemia | 17 | |
HP:0002902 | Hyponatremia | 22 | |
HP:0002901 | Hypocalcemia | 37 | |
HP:0002900 | Hypokalemia | 32 | |
HP:0002907 | Microscopic hematuria | 9 | |
HP:0002905 | Hyperphosphatemia | 15 | |
HP:0002904 | Hyperbilirubinemia | 21 | |
HP:0003362 | Increased circulating very-low-density lipoprotein levels | 5 | |
HP:0003363 | Abdominal situs inversus | 5 | |
HP:0012054 | Choroidal melanoma | 5 | |
HP:0012055 | Ciliary body melanoma | 5 | |
HP:0012056 | Cutaneous melanoma | 7 | |
HP:0002019 | Constipation | 168 | |
HP:0002018 | Nausea | 28 | |
HP:0009906 | Aplasia/Hypoplasia of the earlobes | 11 | |
HP:0002013 | Vomiting | 134 | |
HP:0002015 | Dysphagia | 169 | |
HP:0002014 | Diarrhea | 128 | |
HP:0002017 | Nausea and vomiting | 98 | |
HP:0012238 | Increased circulating chylomicron levels | 4 | |
HP:0012232 | Shortened QT interval | 7 | |
HP:0001669 | Transposition of the great arteries | 19 | |
HP:0001663 | Ventricular fibrillation | 15 | |
HP:0001662 | Bradycardia | 24 | |
HP:0001660 | Truncus arteriosus | 21 | |
HP:0001667 | Right ventricular hypertrophy | 7 | |
HP:0001664 | Torsade de pointes | 7 | |
HP:0007990 | Hypoplastic iris stroma | 4 | |
HP:0007994 | Peripheral visual field loss | 9 | |
HP:0003028 | Abnormality of the ankles | 6 | |
HP:0007440 | Generalized hyperpigmentation | 26 | |
HP:0007443 | Partial albinism | 8 | |
HP:0011675 | Arrhythmia | 87 | |
HP:0001598 | Concave nail | 9 | |
HP:0001595 | Abnormality of the hair | 35 | |
HP:0001597 | Abnormality of the nail | 35 | |
HP:0001596 | Alopecia | 100 | |
HP:0001591 | Bell-shaped thorax | 17 | |
HP:0001592 | Selective tooth agenesis | 6 | |
HP:0003025 | Metaphyseal irregularity | 27 | |
HP:0002747 | Respiratory insufficiency due to muscle weakness | 52 | |
HP:0000307 | Pointed chin | 46 | |
HP:0005108 | Abnormality of the intervertebral disk | 8 | |
HP:0005109 | Abnormality of the Achilles tendon | 4 | |
HP:0005107 | Abnormality of the sacrum | 6 | |
HP:0005105 | Abnormal nasal morphology | 18 | |
HP:0005101 | High-frequency hearing impairment | 4 | |
HP:0006710 | Aplasia/Hypoplasia of the clavicles | 4 | |
HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | 19 | |
HP:0001849 | Foot oligodactyly | 6 | |
HP:0001848 | Calcaneovalgus deformity | 8 | |
HP:0001847 | Long hallux | 7 | |
HP:0001845 | Overlapping toe | 16 | |
HP:0001842 | Foot acroosteolysis | 6 | |
HP:0001841 | Preaxial foot polydactyly | 6 | |
HP:0001840 | Metatarsus adductus | 30 | |
HP:0000308 | Microretrognathia | 20 | |
HP:0006645 | Thin clavicles | 4 | |
HP:0003621 | Juvenile onset | 83 | |
HP:0003623 | Neonatal onset | 25 | |
HP:0002572 | Episodic vomiting | 4 | |
HP:0002573 | Hematochezia | 10 | |
HP:0002570 | Steatorrhea | 23 | |
HP:0002571 | Achalasia | 11 | |
HP:0002574 | Episodic abdominal pain | 26 | |
HP:0002575 | Tracheoesophageal fistula | 43 | |
HP:0010783 | Erythema | 76 | |
HP:0002578 | Gastroparesis | 5 | |
HP:0002579 | Gastrointestinal dysmotility | 5 | |
HP:0000718 | Aggressive behavior | 106 | |
HP:0000719 | Inappropriate behavior | 12 | |
HP:0007260 | Type II lissencephaly | 11 | |
HP:0000716 | Depressivity | 151 | |
HP:0000717 | Autism | 55 | |
HP:0000710 | Hyperorality | 9 | |
HP:0000711 | Restlessness | 16 | |
HP:0000712 | Emotional lability | 78 | |
HP:0000713 | Agitation | 27 | |
HP:0008523 | Posterior helix pit | 7 | |
HP:0008527 | Congenital sensorineural hearing impairment | 18 | |
HP:0100704 | Cortical visual impairment | 29 | |
HP:0100702 | Arachnoid cyst | 7 | |
HP:0008944 | Distal lower limb amyotrophy | 11 | |
HP:0003196 | Short nose | 175 | |
HP:0009130 | Hand muscle atrophy | 6 | |
HP:0004417 | Intermittent claudication | 4 | |
HP:0004416 | Precocious atherosclerosis | 7 | |
HP:0004415 | Pulmonary artery stenosis | 27 | |
HP:0004414 | Abnormality of the pulmonary artery | 5 | |
HP:0003199 | Decreased muscle mass | 41 | |
HP:0003198 | Myopathy | 85 | |
HP:0002716 | Lymphadenopathy | 80 | |
HP:0002714 | Downturned corners of mouth | 74 | |
HP:0002715 | Abnormality of the immune system | 19 | |
HP:0002718 | Recurrent bacterial infections | 55 | |
HP:0002719 | Recurrent infections | 64 | |
HP:0008422 | Vertebral wedging | 6 | |
HP:0011787 | Central hypothyroidism | 8 | |
HP:0007291 | Posterior fossa cyst | 10 | |
HP:0025116 | Fetal distress | 5 | |
HP:0025114 | Hypergranulosis | 11 | |
HP:0005484 | Postnatal microcephaly | 40 | |
HP:0002084 | Encephalocele | 43 | |
HP:0001730 | Progressive hearing impairment | 9 | |
HP:0007874 | Almond-shaped palpebral fissure | 29 | |
HP:0007875 | Congenital blindness | 4 | |
HP:0001733 | Pancreatitis | 21 | |
HP:0001043 | Prominent scalp veins | 4 | |
HP:0006476 | Abnormality of the pancreatic islet cells | 5 | |
HP:0001737 | Pancreatic cysts | 6 | |
HP:0009738 | Abnormality of the antihelix | 13 | |
HP:0007105 | Infantile encephalopathy | 6 | |
HP:0001126 | Cryptophthalmos | 4 | |
HP:0001433 | Hepatosplenomegaly | 35 | |
HP:0001123 | Visual field defect | 25 | |
HP:0001438 | Abnormality of abdomen morphology | 19 | |
HP:0005736 | Short tibia | 11 | |
HP:0008629 | Pulsatile tinnitus | 12 | |
HP:0010571 | Elevated levels of phytanic acid | 15 | |
HP:0000529 | Progressive visual loss | 51 | |
HP:0000528 | Anophthalmia | 36 | |
HP:0000523 | Subcapsular cataract | 11 | |
HP:0000522 | Alacrima | 10 | |
HP:0000520 | Proptosis | 130 | |
HP:0000527 | Long eyelashes | 55 | |
HP:0000526 | Aniridia | 10 | |
HP:0000525 | Abnormality iris morphology | 15 | |
HP:0000524 | Conjunctival telangiectasia | 14 | |
HP:0011950 | Bronchiolitis | 5 | |
HP:0002965 | Cutaneous anergy | 6 | |
HP:0002967 | Cubitus valgus | 22 | |
HP:0002960 | Autoimmunity | 33 | |
HP:0010314 | Premature thelarche | 5 | |
HP:0010311 | Aplasia/Hypoplasia of the breasts | 14 | |
HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | 22 | |
HP:0031284 | Flushing | 12 | |
HP:0003382 | Hypertrophic nerve changes | 6 | |
HP:0003383 | Onion bulb formation | 24 | |
HP:0003380 | Decreased number of peripheral myelinated nerve fibers | 26 | |
HP:0003387 | Decreased number of large peripheral myelinated nerve fibers | 13 | |
HP:0003384 | Peripheral axonal atrophy | 4 | |
HP:0003388 | Easy fatigability | 31 | |
HP:0005701 | Multiple enchondromatosis | 5 | |
HP:0002389 | Cavum septum pellucidum | 12 | |
HP:0002381 | Aphasia | 18 | |
HP:0002380 | Fasciculations | 31 | |
HP:0002383 | Encephalitis | 11 | |
HP:0002385 | Paraparesis | 8 | |
HP:0002384 | Focal seizures with impairment of consciousness or awareness | 13 | |
HP:0012032 | Lipoma | 9 | |
HP:0011040 | Abnormality of the intrahepatic bile duct | 9 | |
HP:0002033 | Poor suck | 27 | |
HP:0002032 | Esophageal atresia | 28 | |
HP:0009926 | Epiphora | 12 | |
HP:0002037 | Inflammation of the large intestine | 4 | |
HP:0002036 | Hiatus hernia | 22 | |
HP:0002035 | Rectal prolapse | 9 | |
HP:0002039 | Anorexia | 31 | |
HP:0002038 | Protein avoidance | 5 | |
HP:0009928 | Thick nasal alae | 10 | |
HP:0030391 | Spoken Word Recognition Deficit | 8 | |
HP:0005855 | Multiple prenatal fractures | 7 | |
HP:0025356 | Pschomotor retardation | 8 | |
HP:0001609 | Hoarse voice | 43 | |
HP:0001608 | Abnormality of the voice | 55 | |
HP:0001605 | Vocal cord paralysis | 10 | |
HP:0001604 | Vocal cord paresis | 5 | |
HP:0001607 | Subglottic stenosis | 6 | |
HP:0001601 | Laryngomalacia | 21 | |
HP:0001600 | Abnormality of the larynx | 7 | |
HP:0001602 | Laryngeal stenosis | 9 | |
HP:0007468 | Perifollicular hyperkeratosis | 4 | |
HP:0006808 | Cerebral hypomyelination | 14 | |
HP:0006801 | Hyperactive deep tendon reflexes | 12 | |
HP:0000952 | Jaundice | 105 | |
HP:0000951 | Abnormality of the skin | 32 | |
HP:0000956 | Acanthosis nigricans | 24 | |
HP:0000957 | Cafe-au-lait spot | 42 | |
HP:0000954 | Single transverse palmar crease | 48 | |
HP:0000958 | Dry skin | 98 | |
HP:0002435 | Meningocele | 4 | |
HP:0004429 | Recurrent viral infections | 19 | |
HP:0006739 | Squamous cell carcinoma of the skin | 12 | |
HP:0006737 | Extraadrenal pheochromocytoma | 12 | |
HP:0006731 | Follicular thyroid carcinoma | 5 | |
HP:0004422 | Biparietal narrowing | 49 | |
HP:0003431 | Decreased motor nerve conduction velocity | 39 | |
HP:0004420 | Arterial thrombosis | 9 | |
HP:0005386 | Recurrent protozoan infections | 4 | |
HP:0005387 | Combined immunodeficiency | 6 | |
HP:0005381 | Recurrent meningococcal disease | 4 | |
HP:0009106 | Abnormal pelvis bone ossification | 7 | |
HP:0012810 | Wide nasal base | 4 | |
HP:0002217 | Slow-growing hair | 30 | |
HP:0003974 | Absent radius | 18 | |
HP:0002740 | Recurrent E. coli infections | 4 | |
HP:0002215 | Sparse axillary hair | 33 | |
HP:0002557 | Hypoplastic nipples | 25 | |
HP:0002553 | Highly arched eyebrow | 67 | |
HP:0002213 | Fine hair | 65 | |
HP:0002558 | Supernumerary nipple | 18 | |
HP:0002744 | Bilateral cleft lip and palate | 6 | |
HP:0000776 | Congenital diaphragmatic hernia | 35 | |
HP:0000777 | Abnormality of the thymus | 6 | |
HP:0000774 | Narrow chest | 74 | |
HP:0000772 | Abnormality of the ribs | 49 | |
HP:0000773 | Short ribs | 43 | |
HP:0000771 | Gynecomastia | 68 | |
HP:0000778 | Hypoplasia of the thymus | 19 | |
HP:0100764 | Lymphangioma | 5 | |
HP:0100765 | Abnormality of the tonsils | 11 | |
HP:0100763 | Abnormality of the lymphatic system | 15 | |
HP:0100760 | Clubbing of toes | 4 | |
HP:0100761 | Visceral angiomatosis | 15 | |
HP:0004383 | Hypoplastic left heart | 10 | |
HP:0004382 | Mitral valve calcification | 4 | |
HP:0004381 | Supravalvular aortic stenosis | 9 | |
HP:0004380 | Aortic valve calcification | 8 | |
HP:0004387 | Enterocolitis | 5 | |
HP:0004385 | Protracted diarrhea | 7 | |
HP:0100769 | Synovitis | 5 | |
HP:0008402 | Ridged fingernail | 4 | |
HP:0008404 | Nail dystrophy | 64 | |
HP:0005419 | Decreased T cell activation | 6 | |
HP:0000176 | Submucous cleft hard palate | 17 | |
HP:0100022 | Abnormality of movement | 47 | |
HP:0007360 | Aplasia/Hypoplasia of the cerebellum | 49 | |
HP:0002738 | Hypoplastic frontal sinuses | 7 | |
HP:0100027 | Recurrent pancreatitis | 8 | |
HP:0002730 | Chronic noninfectious lymphadenopathy | 7 | |
HP:0002731 | Decreased lymphocyte apoptosis | 4 | |
HP:0100026 | Arteriovenous malformation | 8 | |
HP:0007814 | Retinal pigment epithelial mottling | 8 | |
HP:0100665 | Angioedema | 4 | |
HP:0001419 | X-linked recessive inheritance | 144 | |
HP:0001410 | Decreased liver function | 36 | |
HP:0001144 | Orbital cyst | 4 | |
HP:0001413 | Micronodular cirrhosis | 12 | |
HP:0001414 | Microvesicular hepatic steatosis | 10 | |
HP:0001140 | Epibulbar dermoid | 4 | |
HP:0001417 | X-linked inheritance | 42 | |
HP:0008391 | Dystrophic fingernails | 21 | |
HP:0008392 | Subungual hyperkeratosis | 5 | |
HP:0100958 | Narrow foramen obturatorium | 6 | |
HP:0008398 | Hypoplastic fifth fingernail | 7 | |
HP:0100951 | Enlarged fossa interpeduncularis | 4 | |
HP:0009381 | Short finger | 20 | |
HP:0010550 | Paraplegia | 5 | |
HP:0010557 | Overlapping fingers | 16 | |
HP:0010554 | Cutaneous finger syndactyly | 18 | |
HP:0005249 | Functional intestinal obstruction | 8 | |
HP:0005248 | Intrahepatic biliary atresia | 4 | |
HP:0000548 | Cone/cone-rod dystrophy | 29 | |
HP:0000545 | Myopia | 163 | |
HP:0005716 | Lethal skeletal dysplasia | 10 | |
HP:0000547 | Tapetoretinal degeneration | 4 | |
HP:0000546 | Retinal degeneration | 34 | |
HP:0000541 | Retinal detachment | 46 | |
HP:0000540 | Hypermetropia | 71 | |
HP:0000543 | Optic disc pallor | 62 | |
HP:0003013 | Bulging epiphyses | 5 | |
HP:0003010 | Prolonged bleeding time | 33 | |
HP:0003011 | Abnormality of the musculature | 17 | |
HP:0003016 | Metaphyseal widening | 31 | |
HP:0003015 | Flared metaphysis | 25 | |
HP:0003019 | Abnormality of the wrist | 6 | |
HP:0002944 | Thoracolumbar scoliosis | 8 | |
HP:0002943 | Thoracic scoliosis | 8 | |
HP:0002942 | Thoracic kyphosis | 10 | |
HP:0010885 | Aseptic necrosis | 10 | |
HP:0010880 | Increased nuchal translucency | 8 | |
HP:0002949 | Fused cervical vertebrae | 7 | |
HP:0011933 | Elongated superior cerebellar peduncle | 6 | |
HP:0011069 | Increased number of teeth | 12 | |
HP:0011065 | Conical incisor | 10 | |
HP:0009944 | Partial duplication of thumb phalanx | 6 | |
HP:0009943 | Complete duplication of thumb phalanx | 7 | |
HP:0002057 | Prominent glabella | 7 | |
HP:0002059 | Cerebral atrophy | 141 | |
HP:0002058 | Myopathic facies | 20 | |
HP:0007665 | Curly eyelashes | 14 | |
HP:0007663 | Reduced visual acuity | 104 | |
HP:0001627 | Abnormal heart morphology | 29 | |
HP:0001626 | Abnormality of the cardiovascular system | 24 | |
HP:0001623 | Breech presentation | 11 | |
HP:0001622 | Premature birth | 86 | |
HP:0001621 | Weak voice | 8 | |
HP:0001620 | High pitched voice | 28 | |
HP:0001629 | Ventricular septal defect | 167 | |
HP:0006532 | Recurrent pneumonia | 36 | |
HP:0006530 | Interstitial pulmonary abnormality | 6 | |
HP:0006824 | Cranial nerve paralysis | 16 | |
HP:0006829 | Severe muscular hypotonia | 50 | |
HP:0001083 | Ectopia lentis | 23 | |
HP:0001082 | Cholecystitis | 12 | |
HP:0001081 | Cholelithiasis | 21 | |
HP:0001080 | Biliary tract abnormality | 20 | |
HP:0001087 | Congenital glaucoma | 10 | |
HP:0001085 | Papilledema | 8 | |
HP:0001084 | Corneal arcus | 5 | |
HP:0001088 | Brushfield spots | 4 | |
HP:0410067 | Increased level of L-fucose in urine | 12 | |
HP:0410066 | Increased level of hippuric acid in urine | 7 | |
HP:0000974 | Hyperextensible skin | 39 | |
HP:0000975 | Hyperhidrosis | 94 | |
HP:0000976 | Eczematoid dermatitis | 8 | |
HP:0000970 | Anhidrosis | 18 | |
HP:0000972 | Palmoplantar hyperkeratosis | 22 | |
HP:0000973 | Cutis laxa | 30 | |
HP:0000978 | Bruising susceptibility | 83 | |
HP:0000979 | Purpura | 25 | |
HP:0100299 | Muscle fiber inclusion bodies | 4 | |
HP:0006753 | Neoplasm of the stomach | 22 | |
HP:0040154 | Acne inversa | 4 | |
HP:0012219 | Erythema nodosum | 5 | |
HP:0000286 | Epicanthus | 251 | |
HP:0000282 | Facial edema | 4 | |
HP:0000283 | Broad face | 12 | |
HP:0000280 | Coarse facial features | 147 | |
HP:0006846 | Acute encephalopathy | 5 | |
HP:0000289 | Broad philtrum | 8 | |
HP:0001889 | Megaloblastic anemia | 16 | |
HP:0001888 | Lymphopenia | 41 | |
HP:0001883 | Talipes | 38 | |
HP:0001882 | Leukopenia | 41 | |
HP:0001880 | Eosinophilia | 25 | |
HP:0001884 | Talipes calcaneovalgus | 7 | |
HP:0000028 | Cryptorchidism | 356 | |
HP:0000029 | Testicular atrophy | 9 | |
HP:0004279 | Short palm | 80 | |
HP:0005502 | Increased red cell osmotic fragility | 4 | |
HP:0000751 | Personality changes | 24 | |
HP:0000020 | Urinary incontinence | 49 | |
HP:0000021 | Megacystis | 6 | |
HP:0000027 | Azoospermia | 47 | |
HP:0005505 | Refractory anemia | 4 | |
HP:0100749 | Chest pain | 55 | |
HP:0011219 | Short face | 4 | |
HP:0100743 | Neoplasm of the rectum | 11 | |
HP:0003803 | Type 1 muscle fiber predominance | 10 | |
HP:0010044 | Short 4th metacarpal | 8 | |
HP:0010511 | Long toe | 12 | |
HP:0004458 | Dilatated internal auditory canal | 5 | |
HP:0003484 | Upper limb muscle weakness | 9 | |
HP:0003487 | Babinski sign | 144 | |
HP:0004453 | Overfolding of the superior helices | 4 | |
HP:0004452 | Abnormality of the middle ear ossicles | 4 | |
HP:0002539 | Cortical dysplasia | 15 | |
HP:0002536 | Abnormal cortical gyration | 9 | |
HP:0002533 | Abnormal posturing | 4 | |
HP:0001317 | Abnormality of the cerebellum | 6 | |
HP:0001643 | Patent ductus arteriosus | 101 | |
HP:0003228 | Hypernatremia | 5 | |
HP:0003221 | Chromosomal breakage induced by crosslinking agents | 7 | |
HP:0003220 | Abnormality of chromosome stability | 33 | |
HP:0003223 | Decreased methylcobalamin | 5 | |
HP:0003224 | Increased cellular sensitivity to UV light | 4 | |
HP:0001647 | Bicuspid aortic valve | 26 | |
HP:0001310 | Dysmetria | 75 | |
HP:0002280 | Enlarged cisterna magna | 4 | |
HP:0002282 | Heterotopia | 30 | |
HP:0002283 | Global brain atrophy | 15 | |
HP:0002286 | Fair hair | 10 | |
HP:0002289 | Alopecia universalis | 5 | |
HP:0009882 | Short distal phalanx of finger | 66 | |
HP:0009886 | Trichorrhexis nodosa | 7 | |
HP:0009888 | Abnormality of secondary sexual hair | 7 | |
HP:0009775 | Amniotic constriction ring | 4 | |
HP:0009777 | Absent thumb | 18 | |
HP:0009771 | Osteolytic defects of the phalanges of the hand | 13 | |
HP:0009773 | Symphalangism affecting the phalanges of the hand | 9 | |
HP:0009778 | Short thumb | 37 | |
HP:0012594 | Microalbuminuria | 6 | |
HP:0007340 | Lower limb muscle weakness | 37 | |
HP:0008824 | Hypoplastic iliac body | 4 | |
HP:0001161 | Hand polydactyly | 15 | |
HP:0001162 | Postaxial hand polydactyly | 76 | |
HP:0001163 | Abnormality of the metacarpal bones | 33 | |
HP:0001166 | Arachnodactyly | 58 | |
HP:0001167 | Abnormality of finger | 5 | |
HP:0001169 | Broad palm | 21 | |
HP:0010535 | Sleep apnea | 16 | |
HP:0010534 | Transient global amnesia | 9 | |
HP:0010537 | Wide cranial sutures | 7 | |
HP:0010531 | Spinal myoclonus | 4 | |
HP:0010532 | Paroxysmal vertigo | 12 | |
HP:0000567 | Chorioretinal coloboma | 27 | |
HP:0000565 | Esotropia | 37 | |
HP:0000564 | Lacrimal duct atresia | 4 | |
HP:0000563 | Keratoconus | 95 | |
HP:0000561 | Absent eyelashes | 20 | |
HP:0005268 | Spontaneous abortion | 5 | |
HP:0000568 | Microphthalmia | 143 | |
HP:0003034 | Diaphyseal sclerosis | 4 | |
HP:0003037 | Enlarged joints | 6 | |
HP:0003031 | Ulnar bowing | 11 | |
HP:0003038 | Fibular hypoplasia | 13 | |
HP:0011663 | Right ventricular cardiomyopathy | 8 | |
HP:0011002 | Osteopetrosis | 15 | |
HP:0011003 | High myopia | 37 | |
HP:0011001 | Increased bone mineral density | 24 | |
HP:0002079 | Hypoplasia of the corpus callosum | 162 | |
HP:0002078 | Truncal ataxia | 29 | |
HP:0002076 | Migraine | 75 | |
HP:0002075 | Dysdiadochokinesis | 30 | |
HP:0002074 | Increased neuronal autofluorescent lipopigment | 7 | |
HP:0002073 | Progressive cerebellar ataxia | 24 | |
HP:0002072 | Chorea | 40 | |
HP:0002071 | Abnormality of extrapyramidal motor function | 37 | |
HP:0002070 | Limb ataxia | 41 | |
HP:0007133 | Progressive peripheral neuropathy | 4 | |
HP:0007642 | Congenital stationary night blindness | 14 | |
HP:0007641 | Dyschromatopsia | 9 | |
HP:0008619 | Bilateral sensorineural hearing impairment | 18 | |
HP:0030680 | Abnormality of cardiovascular system morphology | 45 | |
HP:0030682 | Left ventricular noncompaction | 10 | |
HP:0030685 | Decreased adiponectin level | 4 | |
HP:0012432 | Chronic fatigue | 8 | |
HP:0012433 | Abnormal social behavior | 8 | |
HP:0100724 | Hypercoagulability | 11 | |
HP:0006515 | Interstitial pneumonitis | 5 | |
HP:0006517 | Alveolar proteinosis | 6 | |
HP:0006510 | Chronic obstructive pulmonary disease | 15 | |
HP:0006511 | Laryngeal stridor | 4 | |
HP:0006519 | Alveolar cell carcinoma | 15 | |
HP:0000916 | Broad clavicles | 6 | |
HP:0000917 | Superior pectus carinatum | 4 | |
HP:0000914 | Shield chest | 9 | |
HP:0000915 | Pectus excavatum of inferior sternum | 5 | |
HP:0000912 | Sprengel anomaly | 19 | |
HP:0200037 | Skin vesicle | 6 | |
HP:0200035 | Skin plaque | 12 | |
HP:0000997 | Axillary freckling | 6 | |
HP:0006774 | Ovarian papillary adenocarcinoma | 5 | |
HP:0031159 | Thinning of Descemet membrane | 5 | |
HP:0000995 | Melanocytic nevus | 29 | |
HP:0040171 | Decreased serum testosterone level | 6 | |
HP:0005692 | Joint hyperflexibility | 112 | |
HP:0005528 | Bone marrow hypocellularity | 30 | |
HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 21 | |
HP:0000003 | Multicystic kidney dysplasia | 77 | |
HP:0008586 | Hypoplasia of the cochlea | 7 | |
HP:0011274 | Recurrent mycobacterial infections | 7 | |
HP:0011276 | Vascular skin abnormality | 4 | |
HP:0011273 | Anisocytosis | 9 | |
HP:0009193 | Pseudoepiphyses of the metacarpals | 7 | |
HP:0002510 | Spastic tetraplegia | 49 | |
HP:0002511 | Alzheimer disease | 5 | |
HP:0002514 | Cerebral calcification | 44 | |
HP:0002515 | Waddling gait | 51 | |
HP:0002516 | Increased intracranial pressure | 29 | |
HP:0002518 | Abnormality of the periventricular white matter | 18 | |
HP:0005349 | Hypoplasia of the epiglottis | 4 | |
HP:0011493 | Central opacification of the cornea | 5 | |
HP:0011496 | Corneal neovascularization | 13 | |
HP:0003203 | Negative nitroblue tetrazolium reduction test | 4 | |
HP:0003202 | Skeletal muscle atrophy | 211 | |
HP:0003201 | Rhabdomyolysis | 14 | |
HP:0003200 | Ragged-red muscle fibers | 19 | |
HP:0003206 | Decreased activity of NADPH oxidase | 4 | |
HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | 5 | |
HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | 4 | |
HP:0000198 | Absence of Stensen duct | 4 | |
HP:0000199 | Tongue nodules | 4 | |
HP:0005988 | Congenital muscular torticollis | 7 | |
HP:0005989 | Redundant neck skin | 10 | |
HP:0005984 | Elevated maternal serum alpha-fetoprotein | 4 | |
HP:0000193 | Bifid uvula | 40 | |
HP:0000191 | Accessory oral frenulum | 8 | |
HP:0007588 | Reticular hyperpigmentation | 6 | |
HP:0012605 | Hypernatriuria | 6 | |
HP:0012608 | Hypermagnesiuria | 6 | |
HP:0007587 | Numerous pigmented freckles | 4 | |
HP:0006989 | Dysplastic corpus callosum | 6 | |
HP:0006986 | Upper limb spasticity | 6 | |
HP:0006984 | Distal sensory loss of all modalities | 5 | |
HP:0006980 | Progressive leukoencephalopathy | 6 | |
HP:0009756 | Popliteal pterygium | 4 | |
HP:0009755 | Ankyloblepharon | 4 | |
HP:0030148 | Heart murmur | 14 | |
HP:0100021 | Cerebral palsy | 17 | |
HP:0007366 | Atrophy/Degeneration affecting the brainstem | 11 | |
HP:0008807 | Acetabular dysplasia | 6 | |
HP:0008800 | Limited hip movement | 5 | |
HP:0008803 | Narrow sacroiliac notch | 4 | |
HP:0006159 | Mesoaxial hand polydactyly | 5 | |
HP:0010515 | Aplasia/Hypoplasia of the thymus | 5 | |
HP:0010047 | Short 5th metacarpal | 5 | |
HP:0010049 | Short metacarpal | 60 | |
HP:0003642 | Type I transferrin isoform profile | 14 | |
HP:0008242 | Pseudohypoaldosteronism | 8 | |
HP:0008240 | Secondary growth hormone deficiency | 4 | |
HP:0008245 | Pituitary hypothyroidism | 17 | |
HP:0004552 | Scarring alopecia of scalp | 13 | |
HP:0011398 | Central hypotonia | 8 | |
HP:0002891 | Uterine leiomyosarcoma | 14 | |
HP:0002890 | Thyroid carcinoma | 5 | |
HP:0002893 | Pituitary adenoma | 8 | |
HP:0002894 | Neoplasm of the pancreas | 11 | |
HP:0002897 | Parathyroid adenoma | 9 | |
HP:0011027 | Abnormality of the fallopian tube | 15 | |
HP:0002091 | Restrictive ventilatory defect | 13 | |
HP:0002090 | Pneumonia | 44 | |
HP:0002093 | Respiratory insufficiency | 154 | |
HP:0002092 | Pulmonary arterial hypertension | 45 | |
HP:0002094 | Dyspnea | 86 | |
HP:0002097 | Emphysema | 17 | |
HP:0002099 | Asthma | 26 | |
HP:0002098 | Respiratory distress | 72 | |
HP:0007112 | Temporal cortical atrophy | 8 | |
HP:0007110 | Central hypoventilation | 8 | |
HP:0100729 | Large face | 9 | |
HP:0006579 | Prolonged neonatal jaundice | 23 | |
HP:0006572 | Subacute progressive viral hepatitis | 9 | |
HP:0100723 | Gastrointestinal stroma tumor | 6 | |
HP:0100720 | Hypoplasia of the ear cartilage | 9 | |
HP:0000934 | Chondrocalcinosis | 15 | |
HP:0000935 | Thickened cortex of long bones | 6 | |
HP:0000938 | Osteopenia | 139 | |
HP:0000939 | Osteoporosis | 137 | |
HP:0100725 | Lichenification | 5 | |
HP:0200055 | Small hand | 57 | |
HP:0003429 | CNS hypomyelination | 20 | |
HP:0004431 | Complement deficiency | 6 | |
HP:0003423 | Thoracolumbar kyphoscoliosis | 5 | |
HP:0003422 | Vertebral segmentation defect | 23 | |
HP:0000242 | Parietal bossing | 5 | |
HP:0000243 | Trigonocephaly | 19 | |
HP:0000246 | Sinusitis | 42 | |
HP:0000244 | Brachyturricephaly | 7 | |
HP:0000248 | Brachycephaly | 120 | |
HP:0100830 | Round ear | 5 | |
HP:0100838 | Recurrent cutaneous abscess formation | 5 | |
HP:0001226 | Acral ulceration and osteomyelitis leading to autoamputation of digits | 4 | |
HP:0030490 | Exudative vitreoretinopathy | 5 | |
HP:0000066 | Labial hypoplasia | 6 | |
HP:0000062 | Ambiguous genitalia | 41 | |
HP:0000063 | Fused labia minora | 5 | |
HP:0000060 | Clitoral hypoplasia | 24 | |
HP:0000798 | Oligospermia | 15 | |
HP:0000799 | Renal steatosis | 4 | |
HP:0000069 | Abnormality of the ureter | 6 | |
HP:0100785 | Insomnia | 16 | |
HP:0100780 | Conjunctival hamartoma | 8 | |
HP:0004493 | Craniofacial hyperostosis | 16 | |
HP:0004492 | Widely patent fontanelles and sutures | 14 | |
HP:0004490 | Calvarial hyperostosis | 6 | |
HP:0001563 | Fetal polyuria | 10 | |
HP:0000163 | Abnormality of the oral cavity | 4 | |
HP:0005406 | Recurrent bacterial skin infections | 10 | |
HP:0010702 | Increased antibody level in blood | 11 | |
HP:0003261 | Increased IgA level | 6 | |
HP:0002797 | Osteolysis | 34 | |
HP:0002793 | Abnormal pattern of respiration | 24 | |
HP:0002790 | Neonatal breathing dysregulation | 5 | |
HP:0002791 | Hypoventilation | 9 | |
HP:0002139 | Arrhinencephaly | 11 | |
HP:0002132 | Porencephalic cyst | 19 | |
HP:0002133 | Status epilepticus | 39 | |
HP:0002131 | Episodic ataxia | 9 | |
HP:0002136 | Broad-based gait | 29 | |
HP:0002134 | Abnormality of the basal ganglia | 4 | |
HP:0002135 | Basal ganglia calcification | 20 | |
HP:0012622 | Chronic kidney disease | 17 | |
HP:0007565 | Multiple cafe-au-lait spots | 16 | |
HP:0006965 | Acute necrotizing encephalopathy | 20 | |
HP:0030166 | Night sweats | 5 | |
HP:0008866 | Failure to thrive secondary to recurrent infections | 4 | |
HP:0007305 | CNS demyelination | 33 | |
HP:0007308 | Extrapyramidal dyskinesia | 5 | |
HP:0005048 | Synostosis of carpal bones | 14 | |
HP:0010066 | Duplication of phalanx of hallux | 5 | |
HP:0005224 | Rectal abscess | 7 | |
HP:0005222 | Bowel diverticulosis | 6 | |
HP:0004798 | Recurrent infection of the gastrointestinal tract | 5 | |
HP:0004794 | Malrotation of small bowel | 6 | |
HP:0000478 | Abnormality of the eye | 26 | |
HP:0000470 | Short neck | 200 | |
HP:0000473 | Torticollis | 24 | |
HP:0000472 | Long neck | 4 | |
HP:0000475 | Broad neck | 9 | |
HP:0000474 | Thickened nuchal skin fold | 34 | |
HP:0000476 | Cystic hygroma | 26 | |
HP:0100643 | Abnormality of nail color | 7 | |
HP:0100646 | Thyroiditis | 5 | |
HP:0003070 | Elbow ankylosis | 9 | |
HP:0003071 | Flattened epiphysis | 9 | |
HP:0003072 | Hypercalcemia | 35 | |
HP:0003073 | Hypoalbuminemia | 26 | |
HP:0003074 | Hyperglycemia | 20 | |
HP:0003075 | Hypoproteinemia | 11 | |
HP:0004443 | Lambdoidal craniosynostosis | 8 | |
HP:0003077 | Hyperlipidemia | 24 | |
HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 7 | |
HP:0004576 | Sclerotic vertebral endplates | 4 | |
HP:0009017 | Loss of gluteal subcutaneous adipose tissue | 5 | |
HP:0004570 | Increased vertebral height | 6 | |
HP:0002301 | Hemiplegia | 15 | |
HP:0002300 | Mutism | 22 | |
HP:0002305 | Athetosis | 22 | |
HP:0002304 | Akinesia | 17 | |
HP:0002307 | Drooling | 29 | |
HP:0002308 | Arnold-Chiari malformation | 13 | |
HP:0008659 | Multiple small medullary renal cysts | 5 | |
HP:0007178 | Motor polyneuropathy | 7 | |
HP:0100258 | Preaxial polydactyly | 14 | |
HP:0100259 | Postaxial polydactyly | 21 | |
HP:0100257 | Ectrodactyly | 4 | |
HP:0100255 | Metaphyseal dysplasia | 10 | |
HP:0001328 | Specific learning disability | 91 | |
HP:0012473 | Tongue atrophy | 6 | |
HP:0012471 | Thick vermilion border | 50 | |
HP:0006554 | Acute hepatic failure | 7 | |
HP:0200073 | Respiratory insufficiency due to defective ciliary clearance | 10 | |
HP:0009650 | Short distal phalanx of the thumb | 7 | |
HP:0012208 | Nonmotile sperm | 5 | |
HP:0001792 | Small nail | 40 | |
HP:0001790 | Nonimmune hydrops fetalis | 9 | |
HP:0001025 | Urticaria | 25 | |
HP:0001795 | Hyperconvex nail | 7 | |
HP:0001029 | Poikiloderma | 16 | |
HP:0001028 | Hemangioma | 25 | |
HP:0001799 | Short nail | 9 | |
HP:0001798 | Anonychia | 21 | |
HP:0000267 | Cranial asymmetry | 5 | |
HP:0000260 | Wide anterior fontanel | 57 | |
HP:0000262 | Turricephaly | 9 | |
HP:0000263 | Oxycephaly | 5 | |
HP:0000268 | Dolichocephaly | 81 | |
HP:0000269 | Prominent occiput | 32 | |
HP:0100817 | Renovascular hypertension | 10 | |
HP:0001245 | Small thenar eminence | 5 | |
HP:0001241 | Capitate-hamate fusion | 8 | |
HP:0003795 | Short middle phalanx of toe | 4 | |
HP:0003791 | Deposits immunoreactive to beta-amyloid protein | 8 | |
HP:0003798 | Nemaline bodies | 10 | |
HP:0000049 | Shawl scrotum | 10 | |
HP:0010720 | Abnormal hair pattern | 6 | |
HP:0010721 | Abnormal hair whorl | 5 | |
HP:0000040 | Long penis | 9 | |
HP:0005561 | Abnormality of bone marrow cell morphology | 4 | |
HP:0005562 | Multiple renal cysts | 9 | |
HP:0000046 | Scrotal hypoplasia | 30 | |
HP:0005567 | Renal magnesium wasting | 5 | |
HP:0003247 | Overgrowth of external genitalia | 4 | |
HP:0003530 | Glutaric acidemia | 4 | |
HP:0003535 | 3-Methylglutaconic aciduria | 11 | |
HP:0003537 | Hypouricemia | 8 | |
HP:0007068 | Inferior vermis hypoplasia | 4 | |
HP:0005547 | Myeloproliferative disorder | 11 | |
HP:0000064 | Hypoplastic labia minora | 22 | |
HP:0006101 | Finger syndactyly | 71 | |
HP:0000790 | Hematuria | 40 | |
HP:0000061 | Ambiguous genitalia, female | 9 | |
HP:0007455 | Adermatoglyphia | 4 | |
HP:0000068 | Urethral atresia | 4 | |
HP:0009826 | Limb undergrowth | 9 | |
HP:0002110 | Bronchiectasis | 71 | |
HP:0002111 | Restrictive deficit on pulmonary function testing | 7 | |
HP:0002113 | Pulmonary infiltrates | 17 | |
HP:0100786 | Hypersomnia | 13 | |
HP:0007549 | Desquamation of skin soon after birth | 12 | |
HP:0007099 | Arnold-Chiari type I malformation | 9 | |
HP:0009796 | Branchial cyst | 4 | |
HP:0007328 | Impaired pain sensation | 23 | |
HP:0007894 | Hypopigmentation of the fundus | 14 | |
HP:0008843 | Hip osteoarthritis | 6 | |
HP:0008846 | Severe intrauterine growth retardation | 4 | |
HP:0001498 | Carpal bone hypoplasia | 9 | |
HP:0001582 | Redundant skin | 35 | |
HP:0005792 | Short humerus | 20 | |
HP:0000453 | Choanal atresia | 35 | |
HP:0000452 | Choanal stenosis | 15 | |
HP:0000457 | Depressed nasal ridge | 79 | |
HP:0000456 | Bifid nasal tip | 5 | |
HP:0000455 | Broad nasal tip | 55 | |
HP:0000458 | Anosmia | 29 | |
HP:0008200 | Primary hyperparathyroidism | 5 | |
HP:0011358 | Generalized hypopigmentation of hair | 6 | |
HP:0011359 | Dry hair | 10 | |
HP:0008208 | Parathyroid hyperplasia | 6 | |
HP:0008209 | Premature ovarian insufficiency | 37 | |
HP:0004510 | Pancreatic islet-cell hyperplasia | 12 | |
HP:0008675 | Enlarged polycystic ovaries | 9 | |
HP:0008678 | Renal hypoplasia/aplasia | 12 | |
HP:0002329 | Drowsiness | 9 | |
HP:0002323 | Anencephaly | 11 | |
HP:0002322 | Resting tremor | 11 | |
HP:0002321 | Vertigo | 36 | |
HP:0002326 | Transient ischemic attack | 13 | |
HP:0002324 | Hydranencephaly | 5 | |
HP:0012185 | Constrictive median neuropathy | 6 | |
HP:0000104 | Renal agenesis | 41 | |
HP:0012189 | Hodgkin lymphoma | 4 | |
HP:0009020 | Exercise-induced muscle fatigue | 8 | |
HP:0003041 | Humeroradial synostosis | 9 | |
HP:0003043 | Abnormality of the shoulder | 4 | |
HP:0200097 | Oral mucosal blisters | 10 | |
HP:0012450 | Chronic constipation | 7 | |
HP:0002318 | Cervical myelopathy | 6 | |
HP:0001009 | Telangiectasia | 22 | |
HP:0001003 | Multiple lentigines | 11 | |
HP:0001000 | Abnormality of skin pigmentation | 34 | |
HP:0001007 | Hirsutism | 60 | |
HP:0001006 | Hypotrichosis | 51 | |
HP:0001004 | Lymphedema | 29 | |
HP:0100874 | Thick hair | 9 | |
HP:0008070 | Sparse hair | 93 | |
HP:0001269 | Hemiparesis | 36 | |
HP:0001268 | Mental deterioration | 45 | |
HP:0001266 | Choreoathetosis | 45 | |
HP:0001265 | Hyporeflexia | 188 | |
HP:0001264 | Spastic diplegia | 17 | |
HP:0001262 | Excessive daytime somnolence | 18 | |
HP:0000207 | Triangular mouth | 7 | |
HP:0000204 | Cleft upper lip | 84 | |
HP:0000202 | Oral cleft | 21 | |
HP:0000201 | Pierre-Robin sequence | 12 | |
HP:0001919 | Acute kidney injury | 6 | |
HP:0001915 | Aplastic anemia | 10 | |
HP:0010747 | Medial flaring of the eyebrow | 4 | |
HP:0010743 | Short metatarsal | 32 | |
HP:0010741 | Edema of the lower limbs | 4 | |
HP:0005583 | Tubular basement membrane disintegration | 4 | |
HP:0005584 | Renal cell carcinoma | 29 | |
HP:0005588 | Patchy palmoplantar keratoderma | 5 | |
HP:0004233 | Advanced ossification of carpal bones | 6 | |
HP:0003510 | Severe short stature | 68 | |
HP:0003517 | Birth length greater than 97th percentile | 5 | |
HP:0010626 | Anterior pituitary agenesis | 7 | |
HP:0005352 | Severe T-cell immunodeficiency | 4 | |
HP:0009803 | Short phalanx of finger | 41 | |
HP:0009800 | Maternal diabetes | 5 | |
HP:0009806 | Nephrogenic diabetes insipidus | 6 | |
HP:0009804 | Reduced number of teeth | 30 | |
HP:0002176 | Spinal cord compression | 9 | |
HP:0002174 | Postural tremor | 18 | |
HP:0002172 | Postural instability | 22 | |
HP:0002173 | Hypoglycemic seizures | 11 | |
HP:0002170 | Intracranial hemorrhage | 14 | |
HP:0002171 | Gliosis | 54 | |
HP:0002179 | Opisthotonus | 25 | |
HP:0006693 | Myocardial steatosis | 6 | |
HP:0200136 | Oral-pharyngeal dysphagia | 6 | |
HP:0200134 | Epileptic encephalopathy | 53 | |
HP:0006110 | Shortening of all middle phalanges of the fingers | 7 | |
HP:0100025 | Overfriendliness | 8 | |
HP:0008197 | Absence of pubertal development | 22 | |
HP:0008193 | Primary gonadal insufficiency | 10 | |
HP:0008191 | Thyroid agenesis | 7 | |
HP:0004756 | Ventricular tachycardia | 20 | |
HP:0004757 | Paroxysmal atrial fibrillation | 9 | |
HP:0000437 | Depressed nasal tip | 18 | |
HP:0000431 | Wide nasal bridge | 328 | |
HP:0000430 | Underdeveloped nasal alae | 67 | |
HP:0008221 | Adrenal hyperplasia | 14 | |
HP:0008222 | Female infertility | 4 | |
HP:0008223 | Compensated hypothyroidism | 5 | |
HP:0100607 | Dysmenorrhea | 4 | |
HP:0100602 | Preeclampsia | 8 | |
HP:0009053 | Distal lower limb muscle weakness | 7 | |
HP:0009055 | Generalized limb muscle atrophy | 4 | |
HP:0010976 | B lymphocytopenia | 12 | |
HP:0010972 | Anemia of inadequate production | 6 | |
HP:0010978 | Abnormality of immune system physiology | 23 | |
HP:0030353 | Decreased serum insulin-like growth factor 1 | 5 | |
HP:0011883 | Abnormal platelet granules | 4 | |
HP:0003162 | Fasting hypoglycemia | 9 | |
HP:0003160 | Abnormal isoelectric focusing of serum transferrin | 6 | |
HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 20 | |
HP:0003165 | Elevated circulating parathyroid hormone level | 16 | |
HP:0002345 | Action tremor | 5 | |
HP:0002344 | Progressive neurologic deterioration | 22 | |
HP:0002346 | Head tremor | 6 | |
HP:0002342 | Intellectual disability, moderate | 45 | |
HP:0011524 | Iris melanoma | 5 | |
HP:0006266 | Small placenta | 7 | |
HP:0003184 | Decreased hip abduction | 4 | |
HP:0012303 | Abnormal aortic arch morphology | 11 | |
HP:0006489 | Abnormality of the femoral metaphysis | 4 | |
HP:0006482 | Abnormality of dental morphology | 29 | |
HP:0006480 | Premature loss of teeth | 18 | |
HP:0006487 | Bowing of the long bones | 38 | |
HP:0009125 | Lipodystrophy | 25 | |
HP:0009126 | Increased adipose tissue | 4 | |
HP:0001069 | Episodic hyperhidrosis | 17 | |
HP:0001065 | Striae distensae | 17 | |
HP:0001067 | Neurofibromas | 6 | |
HP:0001061 | Acne | 39 | |
HP:0001060 | Axillary pterygia | 6 | |
HP:0001063 | Acrocyanosis | 8 | |
HP:0008053 | Aplasia/Hypoplasia of the iris | 19 | |
HP:0008059 | Aplasia/Hypoplasia of the macula | 10 | |
HP:0001281 | Tetany | 19 | |
HP:0001285 | Spastic tetraparesis | 22 | |
HP:0001284 | Areflexia | 132 | |
HP:0001287 | Meningitis | 32 | |
HP:0001289 | Confusion | 40 | |
HP:0001288 | Gait disturbance | 191 | |
HP:0000220 | Velopharyngeal insufficiency | 8 | |
HP:0000221 | Furrowed tongue | 18 | |
HP:0005616 | Accelerated skeletal maturation | 45 | |
HP:0000884 | Prominent sternum | 4 | |
HP:0000885 | Broad ribs | 15 | |
HP:0000886 | Deformed rib cage | 4 | |
HP:0005619 | Thoracolumbar kyphosis | 4 | |
HP:0000882 | Hypoplastic scapulae | 17 | |
HP:0000883 | Thin ribs | 25 | |
HP:0003750 | Increased muscle fatiguability | 4 | |
HP:0003752 | Episodic flaccid weakness | 5 | |
HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers | 6 | |
HP:0000117 | Renal phosphate wasting | 8 | |
HP:0003758 | Reduced subcutaneous adipose tissue | 17 | |
HP:0005474 | Decreased calvarial ossification | 8 | |
HP:0001933 | Subcutaneous hemorrhage | 10 | |
HP:0001931 | Hypochromic anemia | 4 | |
HP:0001930 | Nonspherocytic hemolytic anemia | 7 | |
HP:0001935 | Microcytic anemia | 17 | |
HP:0001934 | Persistent bleeding after trauma | 8 | |
HP:0001939 | Abnormality of metabolism/homeostasis | 150 | |
HP:0010760 | Absent toe | 8 | |
HP:0010761 | Broad columella | 5 | |
HP:0000085 | Horseshoe kidney | 27 | |
HP:0000086 | Ectopic kidney | 16 | |
HP:0000081 | Duplicated collecting system | 7 | |
HP:0000083 | Renal insufficiency | 92 | |
HP:0000089 | Renal hypoplasia | 52 | |
HP:0003574 | Positive regitine blocking test | 12 | |
HP:0003577 | Congenital onset | 228 | |
HP:0003573 | Increased total bilirubin | 6 | |
HP:0002486 | Myotonia | 10 | |
HP:0002487 | Hyperkinesis | 7 | |
HP:0002483 | Bulbar signs | 6 | |
HP:0002488 | Acute leukemia | 7 | |
HP:0003281 | Increased serum ferritin | 19 | |
HP:0002159 | Heparan sulfate excretion in urine | 6 | |
HP:0002150 | Hypercalciuria | 31 | |
HP:0002151 | Increased serum lactate | 100 | |
HP:0002153 | Hyperkalemia | 18 | |
HP:0002154 | Hyperglycinemia | 9 | |
HP:0002627 | Right aortic arch with mirror image branching | 7 | |
HP:0002156 | Homocystinuria | 8 | |
HP:0002625 | Deep venous thrombosis | 8 | |
HP:0008730 | Female external genitalia in individual with 46,XY karyotype | 15 | |
HP:0008736 | Hypoplasia of penis | 163 | |
HP:0008734 | Decreased testicular size | 108 | |
HP:0025066 | Decreased mean corpuscular volume | 5 | |
HP:0006673 | Reduced systolic function | 6 | |
HP:0200114 | Metabolic alkalosis | 4 | |
HP:0005280 | Depressed nasal bridge | 273 | |
HP:0004736 | Crossed fused renal ectopia | 4 | |
HP:0004734 | Renal cortical microcysts | 5 | |
HP:0001548 | Overgrowth | 20 | |
HP:0001540 | Diastasis recti | 16 | |
HP:0001541 | Ascites | 36 | |
HP:0001547 | Abnormality of the rib cage | 17 | |
HP:0001544 | Prominent umbilicus | 4 | |
HP:0001545 | Anteriorly placed anus | 12 | |
HP:0000148 | Vaginal atresia | 11 | |
HP:0000418 | Narrow nasal ridge | 7 | |
HP:0000141 | Amenorrhea | 18 | |
HP:0000140 | Abnormality of the menstrual cycle | 7 | |
HP:0000143 | Rectovaginal fistula | 11 | |
HP:0005425 | Recurrent sinopulmonary infections | 8 | |
HP:0000147 | Polycystic ovaries | 22 | |
HP:0000410 | Mixed hearing impairment | 15 | |
HP:0011318 | Bicoronal synostosis | 4 | |
HP:0100625 | Enlarged thorax | 22 | |
HP:0100621 | Dysgerminoma | 8 | |
HP:0003148 | Elevated serum acid phosphatase | 4 | |
HP:0003145 | Decreased adenosylcobalamin | 6 | |
HP:0003146 | Hypocholesterolemia | 9 | |
HP:0003141 | Increased circulating low-density lipoprotein levels | 12 | |
HP:0002367 | Visual hallucinations | 7 | |
HP:0002366 | Abnormal lower motor neuron morphology | 11 | |
HP:0002365 | Hypoplasia of the brainstem | 36 | |
HP:0002812 | Coxa vara | 34 | |
HP:0002363 | Abnormality of brainstem morphology | 10 | |
HP:0002362 | Shuffling gait | 8 | |
HP:0002361 | Psychomotor deterioration | 7 | |
HP:0002360 | Sleep disturbance | 54 | |
HP:0002818 | Abnormality of the radius | 4 | |
HP:0001036 | Parakeratosis | 12 | |
HP:0002996 | Limited elbow movement | 10 | |
HP:0007269 | Spinal muscular atrophy | 20 | |
HP:0012499 | Descending aortic dissection | 14 | |
HP:0012368 | Flat face | 66 | |
HP:0007266 | Cerebral dysmyelination | 7 | |
HP:0001047 | Atopic dermatitis | 5 | |
HP:0001045 | Vitiligo | 6 | |
HP:0001732 | Abnormality of the pancreas | 5 | |
HP:0001735 | Acute pancreatitis | 6 | |
HP:0001041 | Facial erythema | 6 | |
HP:0001040 | Multiple pterygia | 4 | |
HP:0001739 | Abnormality of the nasopharynx | 11 | |
HP:0001738 | Exocrine pancreatic insufficiency | 26 | |
HP:0001048 | Cavernous hemangioma | 22 | |
HP:0008002 | Abnormality of macular pigmentation | 22 | |
HP:0010982 | Polygenic inheritance | 13 | |
HP:0010459 | True hermaphroditism | 4 | |
HP:0002666 | Pheochromocytoma | 6 | |
HP:0001954 | Episodic fever | 17 | |
HP:0001956 | Truncal obesity | 21 | |
HP:0001951 | Episodic ammonia intoxication | 4 | |
HP:0001950 | Respiratory alkalosis | 5 | |
HP:0001959 | Polydipsia | 18 | |
HP:0001958 | Nonketotic hypoglycemia | 8 | |
HP:0002191 | Progressive spasticity | 7 | |
HP:0001256 | Intellectual disability, mild | 98 | |
HP:0002193 | Pseudobulbar behavioral symptoms | 5 | |
HP:0000044 | Hypogonadotrophic hypogonadism | 88 | |
HP:0100579 | Mucosal telangiectasiae | 16 | |
HP:0000045 | Abnormality of the scrotum | 11 | |
HP:0003777 | Pili torti | 10 | |
HP:0003774 | Stage 5 chronic kidney disease | 47 | |
HP:0000608 | Macular degeneration | 26 | |
HP:0000609 | Optic nerve hypoplasia | 21 | |
HP:0000602 | Ophthalmoplegia | 118 | |
HP:0000603 | Central scotoma | 15 | |
HP:0000600 | Abnormality of the pharynx | 22 | |
HP:0000601 | Hypotelorism | 38 | |
HP:0000607 | Periorbital wrinkles | 4 | |
HP:0000605 | Supranuclear gaze palsy | 8 | |
HP:0007015 | Poor gross motor coordination | 8 | |
HP:0011121 | Abnormality of skin morphology | 12 | |
HP:0008770 | Obsessive-compulsive trait | 5 | |
HP:0003557 | Increased variability in muscle fiber diameter | 28 | |
HP:0003555 | Muscle fiber splitting | 10 | |
HP:0003554 | Type 2 muscle fiber atrophy | 8 | |
HP:0003805 | Rimmed vacuoles | 17 | |
HP:0003552 | Muscle stiffness | 27 | |
HP:0003551 | Difficulty climbing stairs | 20 | |
HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | 6 | |
HP:0002607 | Bowel incontinence | 9 | |
HP:0002600 | Hyporeflexia of lower limbs | 11 | |
HP:0000078 | Abnormality of the genital system | 23 | |
HP:0007074 | Thick corpus callosum | 4 | |
HP:0008715 | Testicular dysgenesis | 11 | |
HP:0008716 | Urethrovaginal fistula | 6 | |
HP:0100555 | Asymmetric growth | 5 | |
HP:0100559 | Lower limb asymmetry | 7 | |
HP:0007385 | Aplasia cutis congenita of scalp | 7 | |
HP:0007383 | Congenital localized absence of skin | 6 | |
HP:0025269 | Panic attack | 5 | |
HP:0025267 | Snoring | 4 | |
HP:0006655 | Rib segmentation abnormalities | 11 | |
HP:0006380 | Knee flexion contracture | 36 | |
HP:0007924 | Slow decrease in visual acuity | 7 | |
HP:0001388 | Joint laxity | 84 | |
HP:0001382 | Joint hypermobility | 46 | |
HP:0001385 | Hip dysplasia | 43 | |
HP:0001386 | Joint swelling | 34 | |
HP:0001387 | Joint stiffness | 116 | |
HP:0000389 | Chronic otitis media | 60 | |
HP:0000388 | Otitis media | 24 | |
HP:0000387 | Absent earlobe | 12 | |
HP:0000385 | Small earlobe | 13 | |
HP:0000384 | Preauricular skin tag | 23 | |
HP:0000381 | Stapes ankylosis | 4 | |
HP:0008153 | Periodic hypokalemic paresis | 8 | |
HP:0008151 | Prolonged prothrombin time | 11 | |
HP:0008155 | Mucopolysacchariduria | 5 | |
HP:0004712 | Renal malrotation | 5 | |
HP:0004719 | Hyperechogenic kidneys | 4 | |
HP:0001560 | Abnormality of the amniotic fluid | 8 | |
HP:0001561 | Polyhydramnios | 117 | |
HP:0001562 | Oligohydramnios | 55 | |
HP:0030880 | Raynaud phenomenon | 6 | |
HP:0005403 | Decrease in T cell count | 13 | |
HP:0000162 | Glossoptosis | 13 | |
HP:0000161 | Median cleft lip | 10 | |
HP:0000160 | Narrow mouth | 106 | |
HP:0005407 | Decreased proportion of CD4-positive T cells | 6 | |
HP:0000164 | Abnormality of the dentition | 55 | |
HP:0000169 | Gingival fibromatosis | 11 | |
HP:0002983 | Micromelia | 86 | |
HP:0003127 | Hypocalciuria | 5 | |
HP:0003124 | Hypercholesterolemia | 29 | |
HP:0003125 | Reduced factor VIII activity | 4 | |
HP:0003121 | Limb joint contracture | 7 | |
HP:0003128 | Lactic acidosis | 126 | |
HP:0002839 | Urinary bladder sphincter dysfunction | 19 | |
HP:0002837 | Recurrent bronchitis | 26 | |
HP:0002835 | Aspiration | 8 | |
HP:0003443 | Decreased size of nerve terminals | 4 | |
HP:0003076 | Glycosuria | 40 | |
HP:0003445 | EMG: neuropathic changes | 17 | |
HP:0000786 | Primary amenorrhea | 72 | |
HP:0012165 | Oligodactyly | 8 | |
HP:0004440 | Coronal craniosynostosis | 18 | |
HP:0004209 | Clinodactyly of the 5th finger | 152 | |
HP:0012340 | Decreased resting energy expenditure | 4 | |
HP:0007240 | Progressive gait ataxia | 9 | |
HP:0008969 | Leg muscle stiffness | 5 | |
HP:0001719 | Double outlet right ventricle | 10 | |
HP:0001718 | Mitral stenosis | 8 | |
HP:0003256 | Abnormality of the coagulation cascade | 14 | |
HP:0001712 | Left ventricular hypertrophy | 21 | |
HP:0001716 | Wolff-Parkinson-White syndrome | 6 | |
HP:0001714 | Ventricular hypertrophy | 13 | |
HP:0007722 | Retinal pigment epithelial atrophy | 13 | |
HP:0001978 | Extramedullary hematopoiesis | 5 | |
HP:0001977 | Abnormal thrombosis | 8 | |
HP:0001976 | Reduced antithrombin III activity | 7 | |
HP:0001974 | Leukocytosis | 22 | |
HP:0001973 | Autoimmune thrombocytopenia | 24 | |
HP:0001972 | Macrocytic anemia | 22 | |
HP:0001970 | Tubulointerstitial nephritis | 8 | |
HP:0000598 | Abnormality of the ear | 22 | |
HP:0000592 | Blue sclerae | 40 | |
HP:0000593 | Abnormal anterior chamber morphology | 10 | |
HP:0000590 | Progressive external ophthalmoplegia | 12 | |
HP:0000597 | Ophthalmoparesis | 12 | |
HP:0000594 | Shallow anterior chamber | 5 | |
HP:0008368 | Tarsal synostosis | 17 | |
HP:0012905 | Euryblepharon | 9 | |
HP:0003715 | Myofibrillar myopathy | 7 | |
HP:0003710 | Exercise-induced muscle cramps | 7 | |
HP:0003713 | Muscle fiber necrosis | 7 | |
HP:0003712 | Skeletal muscle hypertrophy | 18 | |
HP:0002442 | Dyscalculia | 10 | |
HP:0002446 | Astrocytosis | 8 | |
HP:0002999 | Patellar dislocation | 12 | |
HP:0002444 | Hypothalamic hamartoma | 5 | |
HP:0002445 | Tetraplegia | 14 | |
HP:0002448 | Progressive encephalopathy | 7 | |
HP:0002997 | Abnormality of the ulna | 10 | |
HP:0002990 | Fibular aplasia | 8 | |
HP:0002992 | Abnormality of tibia morphology | 9 | |
HP:0000629 | Periorbital fullness | 14 | |
HP:0000625 | Eyelid coloboma | 16 | |
HP:0000627 | Posterior embryotoxon | 30 | |
HP:0000620 | Dacryocystitis | 4 | |
HP:0000621 | Entropion | 9 | |
HP:0000622 | Blurred vision | 10 | |
HP:0000623 | Supranuclear ophthalmoplegia | 4 | |
HP:0011459 | Esophageal carcinoma | 8 | |
HP:0011109 | Chronic sinusitis | 15 | |
HP:0011108 | Recurrent sinusitis | 31 | |
HP:0011107 | Recurrent aphthous stomatitis | 20 | |
HP:0011106 | Hypovolemia | 12 | |
HP:0011451 | Congenital microcephaly | 5 | |
HP:0011100 | Intestinal atresia | 4 | |
HP:0003826 | Stillbirth | 19 | |
HP:0004298 | Abnormality of the abdominal wall | 12 | |
HP:0003829 | Incomplete penetrance | 88 | |
HP:0003828 | Variable expressivity | 237 | |
HP:0002194 | Delayed gross motor development | 26 | |
HP:0002667 | Nephroblastoma | 17 | |
HP:0002664 | Neoplasm | 32 | |
HP:0002665 | Lymphoma | 33 | |
HP:0002663 | Delayed epiphyseal ossification | 13 | |
HP:0002661 | Painless fractures due to injury | 6 | |
HP:0002198 | Dilated fourth ventricle | 5 | |
HP:0002199 | Hypocalcemic seizures | 6 | |
HP:0002668 | Paraganglioma | 5 | |
HP:0002669 | Osteosarcoma | 9 | |
HP:0100578 | Lipoatrophy | 24 | |
HP:0007018 | Attention deficit hyperactivity disorder | 100 | |
HP:0007016 | Corticospinal tract hypoplasia | 5 | |
HP:0100576 | Amaurosis fugax | 8 | |
HP:0007010 | Poor fine motor coordination | 5 | |
HP:0012758 | Neurodevelopmental delay | 10 | |
HP:0007906 | Increased intraocular pressure | 5 | |
HP:0007902 | Vitreous hemorrhage | 6 | |
HP:0004904 | Maturity-onset diabetes of the young | 11 | |
HP:0001362 | Calvarial skull defect | 18 | |
HP:0001363 | Craniosynostosis | 65 | |
HP:0001360 | Holoprosencephaly | 10 | |
HP:0001361 | Nystagmus-induced head nodding | 9 | |
HP:0001367 | Abnormal joint morphology | 5 | |
HP:0001369 | Arthritis | 57 | |
HP:0000360 | Tinnitus | 19 | |
HP:0000363 | Abnormality of earlobe | 6 | |
HP:0000365 | Hearing impairment | 247 | |
HP:0000364 | Hearing abnormality | 11 | |
HP:0000366 | Abnormality of the nose | 5 | |
HP:0000369 | Low-set ears | 287 | |
HP:0000368 | Low-set, posteriorly rotated ears | 146 | |
HP:0004844 | Coombs-positive hemolytic anemia | 4 | |
HP:0004846 | Prolonged bleeding after surgery | 4 | |
HP:0004840 | Hypochromic microcytic anemia | 10 | |
HP:0004841 | Reduced factor XII activity | 5 | |
HP:0009568 | Aplasia/Hypoplasia of the middle phalanx of the 2nd finger | 5 | |
HP:0001507 | Growth abnormality | 21 | |
HP:0005465 | Facial hyperostosis | 4 | |
HP:0000107 | Renal cyst | 45 | |
HP:0000100 | Nephrotic syndrome | 50 | |
HP:0005462 | Calcification of falx cerebri | 6 | |
HP:0008285 | Transient hypophosphatemia | 4 | |
HP:0005469 | Flat occiput | 36 | |
HP:0008283 | Fasting hyperinsulinemia | 9 | |
HP:0004599 | Absent or minimally ossified vertebral bodies | 8 | |
HP:0002123 | Generalized myoclonic seizures | 45 | |
HP:0010620 | Malar prominence | 7 | |
HP:0010624 | Aplastic/hypoplastic toenail | 13 | |
HP:0010627 | Anterior pituitary hypoplasia | 14 | |
HP:0010194 | Aplasia/Hypoplasia of the middle phalanges of the toes | 5 | |
HP:0010628 | Facial palsy | 87 | |
HP:0010780 | Hyperacusis | 14 | |
HP:0003109 | Hyperphosphaturia | 29 | |
HP:0003458 | EMG: myopathic abnormalities | 37 | |
HP:0011863 | Abnormal sternal ossification | 5 | |
HP:0003452 | Increased serum iron | 7 | |
HP:0003450 | Axonal regeneration | 5 | |
HP:0003103 | Abnormal cortical bone morphology | 38 | |
HP:0003457 | EMG abnormality | 53 | |
HP:0003455 | Elevated long chain fatty acids | 4 | |
HP:0007024 | Pseudobulbar paralysis | 4 | |
HP:0002859 | Rhabdomyosarcoma | 9 | |
HP:0002858 | Meningioma | 19 | |
HP:0002857 | Genu valgum | 67 | |
HP:0002850 | IgM deficiency | 13 | |
HP:0010444 | Pulmonary insufficiency | 6 | |
HP:0010442 | Polydactyly | 34 | |
HP:0002271 | Autonomic dysregulation | 6 | |
HP:0002273 | Tetraparesis | 13 | |
HP:0002275 | Poor motor coordination | 4 | |
HP:0012108 | Open angle glaucoma | 4 | |
HP:0012107 | Increased fibular diameter | 5 | |
HP:0012103 | Abnormality of the mitochondrion | 7 | |
HP:0011565 | Common atrium | 5 | |
HP:0008947 | Infantile muscular hypotonia | 16 | |
HP:0011712 | Right bundle branch block | 7 | |
HP:0011710 | Bundle branch block | 9 | |
HP:0030043 | Hip subluxation | 5 | |
HP:0007730 | Iris hypopigmentation | 27 | |
HP:0007737 | Bone spicule pigmentation of the retina | 19 | |
HP:0100326 | Immunologic hypersensitivity | 13 | |
HP:0100324 | Scleroderma | 7 | |
HP:0003193 | Allergic rhinitis | 4 | |
HP:0001771 | Achilles tendon contracture | 14 | |
HP:0001770 | Toe syndactyly | 61 | |
HP:0001773 | Short foot | 94 | |
HP:0001772 | Talipes equinovalgus | 5 | |
HP:0003191 | Cleft ala nasi | 4 | |
HP:0045074 | Thin eyebrow | 7 | |
HP:0045075 | Sparse eyebrow | 11 | |
HP:0002197 | Generalized seizures | 12 | |
HP:0001199 | Triphalangeal thumb | 14 | |
HP:0001191 | Abnormality of the carpal bones | 5 | |
HP:0001193 | Ulnar deviation of the hand or of fingers of the hand | 5 | |
HP:0001195 | Single umbilical artery | 7 | |
HP:0001196 | Short umbilical cord | 6 | |
HP:0000822 | Hypertension | 150 | |
HP:0000823 | Delayed puberty | 118 | |
HP:0000820 | Abnormality of the thyroid gland | 13 | |
HP:0000821 | Hypothyroidism | 62 | |
HP:0000826 | Precocious puberty | 26 | |
HP:0000824 | Growth hormone deficiency | 38 | |
HP:0000825 | Hyperinsulinemic hypoglycemia | 16 | |
HP:0008167 | Very long chain fatty acid accumulation | 13 | |
HP:0000829 | Hypoparathyroidism | 18 | |
HP:0000105 | Enlarged kidney | 18 | |
HP:0001993 | Ketoacidosis | 13 | |
HP:0001992 | Organic aciduria | 10 | |
HP:0001994 | Renal Fanconi syndrome | 16 | |
HP:0001997 | Gout | 8 | |
HP:0001999 | Abnormal facial shape | 68 | |
HP:0001998 | Neonatal hypoglycemia | 19 | |
HP:0010290 | Short hard palate | 4 | |
HP:0010296 | Ankyloglossia | 7 | |
HP:0010297 | Bifid tongue | 12 | |
HP:0000103 | Polyuria | 21 | |
HP:0007149 | Distal upper limb amyotrophy | 5 | |
HP:0008873 | Disproportionate short-limb short stature | 31 | |
HP:0008282 | Unconjugated hyperbilirubinemia | 4 | |
HP:0000108 | Renal corticomedullary cysts | 7 | |
HP:0008344 | Elevated plasma branched chain amino acids | 5 | |
HP:0008348 | Immunoglobulin IgG2 deficiency | 4 | |
HP:0003737 | Mitochondrial myopathy | 9 | |
HP:0003736 | Autophagic vacuoles | 4 | |
HP:0003738 | Exercise-induced myalgia | 11 | |
HP:0002464 | Spastic dysarthria | 4 | |
HP:0002465 | Poor speech | 72 | |
HP:0002460 | Distal muscle weakness | 83 | |
HP:0002463 | Language impairment | 20 | |
HP:0010874 | Tendon xanthomatosis | 4 | |
HP:0010871 | Sensory ataxia | 9 | |
HP:0000646 | Amblyopia | 25 | |
HP:0000647 | Sclerocornea | 27 | |
HP:0000643 | Blepharospasm | 13 | |
HP:0000640 | Gaze-evoked nystagmus | 13 | |
HP:0000641 | Dysmetric saccades | 10 | |
HP:0000648 | Optic atrophy | 317 | |
HP:0000649 | Abnormality of visual evoked potentials | 28 | |
HP:0011476 | Profound sensorineural hearing impairment | 4 | |
HP:0011473 | Villous atrophy | 17 | |
HP:0003593 | Infantile onset | 358 | |
HP:0003596 | Middle age onset | 4 | |
HP:0030212 | Collectionism | 9 | |
HP:0030213 | Emotional blunting | 9 | |
HP:0007033 | Cerebellar dysplasia | 11 | |
HP:0100519 | Anuria | 4 | |
HP:0100512 | Vitamin D deficiency | 4 | |
HP:0003185 | Short sacroiliac notch | 4 | |
HP:0002643 | Neonatal respiratory distress | 19 | |
HP:0002644 | Abnormality of pelvic girdle bone morphology | 51 | |
HP:0002645 | Wormian bones | 36 | |
HP:0002647 | Aortic dissection | 10 | |
HP:0012735 | Cough | 41 | |
HP:0012736 | Profound global developmental delay | 22 | |
HP:0012733 | Macule | 21 | |
HP:0012732 | Anorectal anomaly | 10 | |
HP:0005261 | Joint hemorrhage | 11 | |
HP:0006610 | Wide intermamillary distance | 65 | |
HP:0006349 | Agenesis of permanent teeth | 8 | |
HP:0004923 | Hyperphenylalaninemia | 5 | |
HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | 5 | |
HP:0001696 | Situs inversus totalis | 28 | |
HP:0001695 | Cardiac arrest | 8 | |
HP:0001341 | Olfactory lobe agenesis | 6 | |
HP:0001342 | Cerebral hemorrhage | 24 | |
HP:0001348 | Brisk reflexes | 11 | |
HP:0001349 | Facial diplegia | 13 | |
HP:0001698 | Pericardial effusion | 7 | |
HP:0001699 | Sudden death | 17 | |
HP:0004823 | Anisopoikilocytosis | 6 | |
HP:0001528 | Hemihypertrophy | 7 | |
HP:0001522 | Death in infancy | 102 | |
HP:0001525 | Severe failure to thrive | 6 | |
HP:0040189 | Scaling skin | 11 | |
HP:0040185 | Macrothrombocytopenia | 6 | |
HP:0000349 | Widow's peak | 6 | |
HP:0000348 | High forehead | 131 | |
HP:0000343 | Long philtrum | 188 | |
HP:0000341 | Narrow forehead | 54 | |
HP:0000340 | Sloping forehead | 82 | |
HP:0000347 | Micrognathia | 391 | |
HP:0003698 | Difficulty standing | 6 | |
HP:0003690 | Limb muscle weakness | 29 | |
HP:0003691 | Scapular winging | 31 | |
HP:0003693 | Distal amyotrophy | 75 | |
HP:0001838 | Rocker bottom foot | 30 | |
HP:0001839 | Split foot | 4 | |
HP:0001833 | Long foot | 15 | |
HP:0001830 | Postaxial foot polydactyly | 26 | |
HP:0001831 | Short toe | 36 | |
HP:0001836 | Camptodactyly of toe | 8 | |
HP:0001837 | Broad toe | 6 | |
HP:0010609 | Skin tags | 13 | |
HP:0005338 | Sparse lateral eyebrow | 14 | |
HP:0000128 | Renal potassium wasting | 5 | |
HP:0000127 | Renal salt wasting | 18 | |
HP:0000125 | Pelvic kidney | 12 | |
HP:0000123 | Nephritis | 8 | |
HP:0000121 | Nephrocalcinosis | 33 | |
HP:0004319 | Decreased circulating aldosterone level | 12 | |
HP:0003474 | Sensory impairment | 10 | |
HP:0004315 | IgG deficiency | 27 | |
HP:0003477 | Peripheral axonal neuropathy | 36 | |
HP:0003470 | Paralysis | 43 | |
HP:0004313 | Decreased antibody level in blood | 51 | |
HP:0002877 | Nocturnal hypoventilation | 6 | |
HP:0002876 | Episodic tachypnea | 22 | |
HP:0002875 | Exertional dyspnea | 46 | |
HP:0002870 | Obstructive sleep apnea | 11 | |
HP:0010464 | Streak ovary | 19 | |
HP:0002879 | Anisospondyly | 4 | |
HP:0002878 | Respiratory failure | 117 | |
HP:0003108 | Hyperglycinuria | 13 | |
HP:0009918 | Ectopia pupillae | 8 | |
HP:0004332 | Abnormal lymphocyte morphology | 11 | |
HP:0001022 | Albinism | 17 | |
HP:0004333 | Bone-marrow foam cells | 5 | |
HP:0011802 | Hamartoma of tongue | 5 | |
HP:0011803 | Bifid nose | 4 | |
HP:0011800 | Midface retrusion | 154 | |
HP:0004331 | Decreased skull ossification | 18 | |
HP:0004336 | Myelin outfoldings | 4 | |
HP:0004337 | Abnormality of amino acid metabolism | 7 | |
HP:0002253 | Colonic diverticula | 16 | |
HP:0002251 | Aganglionic megacolon | 30 | |
HP:0002257 | Chronic rhinitis | 12 | |
HP:0004334 | Dermal atrophy | 32 | |
HP:0002254 | Intermittent diarrhea | 8 | |
HP:0012120 | Methylmalonic aciduria | 14 | |
HP:0012125 | Prostate cancer | 5 | |
HP:0012126 | Stomach cancer | 12 | |
HP:0011734 | Central adrenal insufficiency | 7 | |
HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency | 5 | |
HP:0012385 | Camptodactyly | 58 | |
HP:0007759 | Opacification of the corneal stroma | 40 | |
HP:0007209 | Facial paralysis | 4 | |
HP:0008921 | Neonatal short-limb short stature | 11 | |
HP:0025167 | Fragmented elastic fibers in the dermis | 4 | |
HP:0001756 | Vestibular hypofunction | 11 | |
HP:0001751 | Vestibular dysfunction | 12 | |
HP:0000750 | Delayed speech and language development | 190 | |
HP:0000805 | Enuresis | 8 | |
HP:0000802 | Impotence | 32 | |
HP:0000803 | Renal cortical cysts | 9 | |
HP:0000808 | Penoscrotal hypospadias | 5 | |
HP:0002676 | Cloverleaf skull | 6 | |
HP:0008323 | Abnormal light- and dark-adapted electroretinogram | 5 | |
HP:0000668 | Hypodontia | 96 | |
HP:0000660 | Lipemia retinalis | 5 | |
HP:0000662 | Nyctalopia | 123 | |
HP:0000664 | Synophrys | 63 | |
HP:0000666 | Horizontal nystagmus | 20 | |
HP:0000667 | Phthisis bulbi | 9 | |
HP:0000559 | Corneal scarring | 10 | |
HP:0100534 | Episcleritis | 4 | |
HP:0100533 | Inflammatory abnormality of the eye | 10 | |
HP:0100530 | Abnormality of calcium-phosphate metabolism | 5 | |
HP:0100539 | Periorbital edema | 17 | |
HP:0002451 | Limb dystonia | 11 | |
HP:0002406 | Limb dysmetria | 6 | |
HP:0002404 | Thickened superior cerebellar peduncle | 4 | |
HP:0002403 | Positive Romberg sign | 6 | |
HP:0002401 | Stroke-like episode | 5 | |
HP:0003319 | Abnormality of the cervical spine | 7 | |
HP:0003311 | Hypoplasia of the odontoid process | 20 | |
HP:0003312 | Abnormal form of the vertebral bodies | 42 | |
HP:0003316 | Butterfly vertebrae | 8 | |
HP:0006367 | Crumpled long bones | 5 | |
HP:0025390 | Reticular pattern on pulmonary HRCT | 13 | |
HP:0006097 | 3-4 finger syndactyly | 4 | |
HP:0400008 | Menometrorrhagia | 5 | |
HP:0012240 | Increased intramyocellular lipid droplets | 22 | |
HP:0012246 | Oculomotor nerve palsy | 6 | |
HP:0006895 | Lower limb hypertonia | 5 | |
HP:0006891 | Thick cerebral cortex | 9 | |
HP:0006892 | Frontotemporal cerebral atrophy | 11 | |
HP:0004944 | Dilatation of the cerebral artery | 8 | |
HP:0002459 | Dysautonomia | 22 | |
HP:0004943 | Accelerated atherosclerosis | 4 | |
HP:0004942 | Aortic aneurysm | 17 | |
HP:0002077 | Migraine with aura | 4 | |
HP:0001324 | Muscle weakness | 208 | |
HP:0001325 | Hypoglycemic coma | 11 | |
HP:0001320 | Cerebellar vermis hypoplasia | 51 | |
HP:0001321 | Cerebellar hypoplasia | 110 | |
HP:0007410 | Palmoplantar hyperhidrosis | 7 | |
HP:0007417 | Discoid lupus rash | 4 | |
HP:0004808 | Acute myeloid leukemia | 6 | |
HP:0030799 | Scaphocephaly | 13 | |
HP:0000325 | Triangular face | 82 | |
HP:0000324 | Facial asymmetry | 42 | |
HP:0000327 | Hypoplasia of the maxilla | 83 | |
HP:0000320 | Bird-like facies | 6 | |
HP:0000322 | Short philtrum | 83 | |
HP:0003676 | Progressive | 219 | |
HP:0003677 | Slow progression | 138 | |
HP:0003674 | Onset | 21 | |
HP:0003678 | Rapidly progressive | 35 | |
HP:0001818 | Paronychia | 10 | |
HP:0001814 | Deep-set nails | 5 | |
HP:0001816 | Thin nail | 10 | |
HP:0001817 | Absent fingernail | 10 | |
HP:0001810 | Dystrophic toenail | 16 | |
HP:0001812 | Hyperconvex fingernails | 9 | |
HP:0010669 | Hypoplasia of the zygomatic bone | 24 | |
HP:0000495 | Recurrent corneal erosions | 12 | |
HP:0000494 | Downslanted palpebral fissures | 217 | |
HP:0005317 | Increased pulmonary vascular resistance | 4 | |
HP:0000491 | Keratitis | 26 | |
HP:0000490 | Deeply set eye | 99 | |
HP:0000499 | Abnormality of the eyelashes | 25 | |
HP:0000498 | Blepharitis | 22 | |
HP:0003416 | Spinal canal stenosis | 15 | |
HP:0003417 | Coronal cleft vertebrae | 9 | |
HP:0004375 | Neoplasm of the nervous system | 11 | |
HP:0004372 | Reduced consciousness/confusion | 6 | |
HP:0004370 | Abnormality of temperature regulation | 11 | |
HP:0003251 | Male infertility | 38 | |
HP:0003418 | Back pain | 15 | |
HP:0010489 | Absent palmar crease | 6 | |
HP:0000048 | Bifid scrotum | 19 | |
HP:0011531 | Vitritis | 4 | |
HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | 17 | |
HP:0002235 | Pili canaliculi | 6 | |
HP:0002236 | Frontal upsweep of hair | 4 | |
HP:0002231 | Sparse body hair | 48 | |
HP:0002230 | Generalized hirsutism | 51 | |
HP:0000041 | Chordee | 6 | |
HP:0002239 | Gastrointestinal hemorrhage | 55 | |
HP:0008499 | High hypermetropia | 33 | |
HP:0100490 | Camptodactyly of finger | 108 | |
HP:0010729 | Cherry red spot of the macula | 8 | |
HP:0011755 | Ectopic posterior pituitary | 10 | |
HP:0000047 | Hypospadias | 137 | |
HP:0007772 | Impaired smooth pursuit | 17 | |
HP:0006352 | Failure of eruption of permanent teeth | 4 | |
HP:0003241 | External genital hypoplasia | 22 | |
HP:0005950 | Laryngeal web | 4 | |
HP:0005957 | Breathing dysregulation | 4 | |
HP:0007731 | Chorioretinal dysplasia | 16 | |
HP:0030048 | Colpocephaly | 5 | |
HP:0008905 | Rhizomelia | 36 | |
HP:0007227 | Macrogyria | 19 | |
HP:0006429 | Broad femoral neck | 7 | |
HP:0000868 | Decreased fertility in females | 23 | |
HP:0000869 | Secondary amenorrhea | 34 | |
HP:0000864 | Abnormality of the hypothalamus-pituitary axis | 14 | |
HP:0000863 | Central diabetes insipidus | 5 | |
HP:0000860 | Parathyroid hypoplasia | 4 | |
HP:0040080 | Anteverted ears | 4 | |
HP:0040081 | Abnormal levels of creatine kinase in blood | 16 | |
HP:0040083 | Toe walking | 9 | |
HP:0040084 | Abnormal circulating renin | 4 | |
HP:0040086 | Abnormal prolactin level | 9 | |
HP:0005764 | Polyarticular arthritis | 13 | |
HP:0008305 | Exercise-induced myoglobinuria | 5 | |
HP:0002212 | Curly hair | 16 | |
HP:0000682 | Abnormality of dental enamel | 41 | |
HP:0000680 | Delayed eruption of primary teeth | 12 | |
HP:0000687 | Widely spaced teeth | 44 | |
HP:0000684 | Delayed eruption of teeth | 83 | |
HP:0000685 | Hypoplasia of teeth | 12 | |
HP:0000689 | Dental malocclusion | 66 | |
HP:0003088 | Premature osteoarthritis | 6 | |
HP:0003081 | Increased urinary potassium | 5 | |
HP:0003080 | Hydroxyprolinuria | 9 | |
HP:0003083 | Dislocated radial head | 22 | |
HP:0003085 | Long fibula | 4 | |
HP:0007141 | Sensorimotor neuropathy | 21 | |
HP:0002421 | Poor head control | 24 | |
HP:0002423 | Long-tract signs | 4 | |
HP:0002936 | Distal sensory impairment | 78 | |
HP:0002938 | Lumbar hyperlordosis | 44 | |
HP:0010837 | Decreased serum ceruloplasmin | 5 | |
HP:0003330 | Abnormal bone structure | 4 | |
HP:0003336 | Abnormal enchondral ossification | 4 | |
HP:0002684 | Thickened calvaria | 23 | |
HP:0002680 | J-shaped sella turcica | 8 | |
HP:0002688 | Absent frontal sinuses | 8 | |
HP:0012086 | Abnormal urinary color | 7 | |
HP:0001769 | Broad foot | 29 | |
HP:0012263 | Immotile cilia | 5 | |
HP:0012262 | Abnormal ciliary motility | 5 | |
HP:0008689 | Bilateral cryptorchidism | 6 | |
HP:0012265 | Ciliary dyskinesia | 30 | |
HP:0008684 | Aplasia/hypoplasia of the uterus | 6 | |
HP:0003634 | Amyoplasia | 4 | |
HP:0004969 | Peripheral pulmonary artery stenosis | 16 | |
HP:0004962 | Thoracic aorta calcification | 4 | |
HP:0001300 | Parkinsonism | 57 | |
HP:0001653 | Mitral regurgitation | 41 | |
HP:0001650 | Aortic valve stenosis | 32 | |
HP:0001651 | Dextrocardia | 7 | |
HP:0001304 | Torsion dystonia | 7 | |
HP:0001657 | Prolonged QT interval | 20 | |
HP:0001654 | Abnormal heart valve morphology | 18 | |
HP:0001655 | Patent foramen ovale | 19 | |
HP:0001308 | Tongue fasciculations | 13 | |
HP:0001658 | Myocardial infarction | 25 | |
HP:0001659 | Aortic regurgitation | 32 | |
HP:0007435 | Diffuse palmoplantar keratoderma | 6 | |
HP:0007430 | Generalized edema | 4 | |
HP:0007431 | Congenital ichthyosiform erythroderma | 10 | |
HP:0010579 | Cone-shaped epiphysis | 36 | |
HP:0000303 | Mandibular prognathia | 101 | |
HP:0000300 | Oval face | 7 | |
HP:0002119 | Ventriculomegaly | 193 | |
HP:0003658 | Hypomethioninemia | 4 | |
HP:0004689 | Short fourth metatarsal | 5 | |
HP:0001876 | Pancytopenia | 40 | |
HP:0001874 | Abnormality of neutrophils | 27 | |
HP:0001875 | Neutropenia | 68 | |
HP:0001872 | Abnormal thrombocyte morphology | 5 | |
HP:0001873 | Thrombocytopenia | 149 | |
HP:0001871 | Abnormality of blood and blood-forming tissues | 13 | |
HP:0001878 | Hemolytic anemia | 51 | |
HP:0005487 | Prominent metopic ridge | 27 | |
HP:0010648 | Dermal translucency | 7 | |
HP:0005374 | Cellular immunodeficiency | 21 | |
HP:0000292 | Loss of facial adipose tissue | 4 | |
HP:0008517 | Aplasia/Hypoplasia of the sacrum | 4 | |
HP:0003438 | Absent Achilles reflex | 8 | |
HP:0004359 | Abnormality of fatty-acid metabolism | 5 | |
HP:0004428 | Elfin facies | 10 | |
HP:0009102 | Anterior open-bite malocclusion | 4 | |
HP:0004425 | Flat forehead | 6 | |
HP:0002749 | Osteomalacia | 16 | |
HP:0002748 | Rickets | 19 | |
HP:0002219 | Facial hypertrichosis | 4 | |
HP:0002741 | Recurrent Serratia marcescens infections | 4 | |
HP:0002216 | Premature graying of hair | 26 | |
HP:0002742 | Recurrent Klebsiella infections | 4 | |
HP:0002745 | Oral leukoplakia | 22 | |
HP:0011220 | Prominent forehead | 103 | |
HP:0002211 | White forelock | 12 | |
HP:0011227 | Elevated C-reactive protein level | 25 | |
HP:0008479 | Hypoplastic vertebral bodies | 10 | |
HP:0004395 | Malnutrition | 10 | |
HP:0005974 | Episodic ketoacidosis | 4 | |
HP:0005978 | Type II diabetes mellitus | 18 | |
HP:0006443 | Patellar aplasia | 15 | |
HP:0008848 | Moderately short stature | 4 | |
HP:0000840 | Adrenogenital syndrome | 6 | |
HP:0000841 | Hyperactive renin-angiotensin system | 8 | |
HP:0000842 | Hyperinsulinemia | 99 | |
HP:0000843 | Hyperparathyroidism | 11 | |
HP:0000845 | Growth hormone excess | 15 | |
HP:0000846 | Adrenal insufficiency | 11 | |
HP:0000848 | Increased circulating renin level | 10 | |
HP:0009487 | Ulnar deviation of the hand | 13 | |
HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature | 18 | |
HP:0000512 | Abnormal electroretinogram | 139 | |
HP:0000510 | Rod-cone dystrophy | 128 | |
HP:0000511 | Vertical supranuclear gaze palsy | 5 | |
HP:0000514 | Slow saccadic eye movements | 15 | |
HP:0000518 | Cataract | 327 | |
HP:0000519 | Congenital cataract | 55 | |
HP:0005743 | Avascular necrosis of the capital femoral epiphysis | 9 | |
HP:0004374 | Hemiplegia/hemiparesis | 52 | |
HP:0010580 | Enlarged epiphyses | 4 | |
HP:0010582 | Irregular epiphyses | 11 | |
HP:0010585 | Small epiphyses | 11 | |
HP:0011985 | Acholic stools | 4 | |
HP:0002914 | Hyperchloriduria | 5 | |
HP:0002917 | Hypomagnesemia | 16 | |
HP:0002910 | Elevated hepatic transaminases | 116 | |
HP:0002912 | Methylmalonic acidemia | 11 | |
HP:0002913 | Myoglobinuria | 12 | |
HP:0002919 | Ketonuria | 17 | |
HP:0045084 | Limb myoclonus | 4 | |
HP:0003355 | Aminoaciduria | 45 | |
HP:0003351 | Decreased circulating renin level | 9 | |
HP:0006323 | Premature loss of primary teeth | 17 | |
HP:0012062 | Bone cyst | 14 | |
HP:0002009 | Potter facies | 10 | |
HP:0002002 | Deep philtrum | 27 | |
HP:0002003 | Large forehead | 6 | |
HP:0002000 | Short columella | 12 | |
HP:0002006 | Facial cleft | 10 | |
HP:0002007 | Frontal bossing | 212 | |
HP:0007633 | Bilateral microphthalmos | 12 | |
HP:0012207 | Reduced sperm motility | 8 | |
HP:0012203 | Onychomycosis | 13 | |
HP:0012202 | Increased serum bile acid concentration | 5 | |
HP:0012209 | Juvenile myelomonocytic leukemia | 6 | |
HP:0007182 | Peripheral hypomyelination | 7 | |
HP:0006855 | Cerebellar vermis atrophy | 6 | |
HP:0006585 | Congenital pseudoarthrosis of the clavicle | 5 | |
HP:0001674 | Complete atrioventricular canal defect | 8 | |
HP:0001677 | Coronary artery atherosclerosis | 22 | |
HP:0001670 | Asymmetric septal hypertrophy | 11 | |
HP:0001671 | Abnormal cardiac septum morphology | 33 | |
HP:0001678 | Atrioventricular block | 11 | |
HP:0001580 | Pigmented micronodular adrenocortical disease | 4 | |
HP:0001581 | Recurrent skin infections | 25 | |
HP:0200039 | Pustule | 12 | |
HP:0005177 | Premature arteriosclerosis | 8 | |
HP:0000987 | Atypical scarring of skin | 87 | |
HP:0000980 | Pallor | 56 | |
HP:0000982 | Palmoplantar keratoderma | 70 | |
HP:0000989 | Pruritus | 71 | |
HP:0000988 | Skin rash | 58 | |
HP:0001852 | Sandal gap | 34 | |
HP:0000189 | Narrow palate | 29 | |
HP:0000188 | Short upper lip | 9 | |
HP:0010615 | Angiofibromas | 7 | |
HP:0005356 | Decreased serum complement factor I | 4 | |
HP:0000187 | Broad alveolar ridges | 6 | |
HP:0000180 | Lobulated tongue | 6 | |
HP:0000183 | Difficulty in tongue movements | 5 | |
HP:0000130 | Abnormality of the uterus | 5 | |
HP:0000131 | Uterine leiomyoma | 4 | |
HP:0000132 | Menorrhagia | 21 | |
HP:0009924 | Aplasia/Hypoplasia involving the nose | 7 | |
HP:0012841 | Retinal vascular tortuosity | 7 | |
HP:0000133 | Gonadal dysgenesis | 23 | |
HP:0003639 | Elevated urinary epinephrine | 12 | |
HP:0003982 | Aplasia of the ulna | 4 | |
HP:0003635 | Loss of subcutaneous adipose tissue in limbs | 9 | |
HP:0009921 | Duane anomaly | 6 | |
HP:0002583 | Colitis | 8 | |
HP:0000729 | Autistic behavior | 37 | |
HP:0000720 | Mood swings | 8 | |
HP:0000723 | Restrictive behavior | 11 | |
HP:0000722 | Obsessive-compulsive behavior | 36 | |
HP:0000727 | Frontal lobe dementia | 7 | |
HP:0000726 | Dementia | 75 | |
HP:0100735 | Hypertensive crisis | 4 | |
HP:0003180 | Flat acetabular roof | 16 | |
HP:0003182 | Shallow acetabular fossae | 7 | |
HP:0003183 | Wide pubic symphysis | 5 | |
HP:0004409 | Hyposmia | 28 | |
HP:0003186 | Inverted nipples | 13 | |
HP:0003187 | Breast hypoplasia | 34 | |
HP:0003189 | Long nose | 22 | |
HP:0004406 | Spontaneous, recurrent epistaxis | 4 | |
HP:0002761 | Generalized joint laxity | 11 | |
HP:0003113 | Hypochloremia | 7 | |
HP:0003444 | EMG: chronic denervation signs | 7 | |
HP:0008450 | Narrow vertebral interpedicular distance | 5 | |
HP:0008981 | Calf muscle hypertrophy | 17 | |
HP:0008064 | Ichthyosis | 61 | |
HP:0008065 | Aplasia/Hypoplasia of the skin | 22 | |
HP:0005914 | Aplasia/Hypoplasia involving the metacarpal bones | 5 | |
HP:0002869 | Flared iliac wings | 18 | |
HP:0007843 | Attenuation of retinal blood vessels | 26 | |
HP:0012548 | Fatty replacement of skeletal muscle | 5 | |
HP:0011204 | EEG with continuous slow activity | 9 | |
HP:0006461 | Proximal femoral epiphysiolysis | 4 | |
HP:0006466 | Ankle contracture | 15 | |
HP:0009729 | Cardiac rhabdomyoma | 5 | |
HP:0009720 | Adenoma sebaceum | 19 | |
HP:0009721 | Shagreen patch | 4 | |
HP:0007206 | Hemimegalencephaly | 4 | |
HP:0009462 | Radial deviation of the 3rd finger | 4 | |
HP:0009465 | Ulnar deviation of finger | 24 | |
HP:0009464 | Ulnar deviation of the 2nd finger | 5 | |
HP:0009467 | Radial deviation of the 2nd finger | 5 | |
HP:0009466 | Radial deviation of finger | 42 | |
HP:0001442 | Somatic mosaicism | 8 | |
HP:0001440 | Metatarsal synostosis | 4 | |
HP:0001115 | Posterior polar cataract | 5 | |
HP:0001114 | Xanthelasma | 6 | |
HP:0000534 | Abnormal eyebrow morphology | 16 | |
HP:0000535 | Sparse and thin eyebrow | 55 | |
HP:0000537 | Epicanthus inversus | 5 | |
HP:0000532 | Abnormal chorioretinal morphology | 30 | |
HP:0000533 | Chorioretinal atrophy | 12 | |
HP:0000538 | Pseudopapilledema | 4 | |
HP:0030642 | Fundus albipunctatus | 4 | |
HP:0100518 | Dysuria | 5 | |
HP:0010562 | Keloids | 4 | |
HP:0010566 | Hamartoma | 5 | |
HP:0011961 | Non-obstructive azoospermia | 38 | |
HP:0011962 | Obstructive azoospermia | 13 | |
HP:0011969 | Elevated circulating luteinizing hormone level | 19 | |
HP:0011968 | Feeding difficulties | 231 | |
HP:0002979 | Bowing of the legs | 14 | |
HP:0002974 | Radioulnar synostosis | 36 | |
HP:0002972 | Reduced delayed hypersensitivity | 4 | |
HP:0002970 | Genu varum | 24 | |
HP:0010306 | Short thorax | 39 | |
HP:0010307 | Stridor | 10 | |
HP:0010300 | Abnormally low-pitched voice | 12 | |
HP:0003378 | Axonal degeneration/regeneration | 7 | |
HP:0003376 | Steppage gait | 31 | |
HP:0003375 | Narrow greater sacrosciatic notches | 9 | |
HP:0003370 | Flat capital femoral epiphysis | 10 | |
HP:0002398 | Degeneration of anterior horn cells | 10 | |
HP:0002392 | EEG with polyspike wave complexes | 4 | |
HP:0002396 | Cogwheel rigidity | 5 | |
HP:0002395 | Lower limb hyperreflexia | 20 | |
HP:0012049 | Laryngeal dystonia | 7 | |
HP:0012048 | Oromandibular dystonia | 6 | |
HP:0012043 | Pendular nystagmus | 18 | |
HP:0012041 | Decreased fertility in males | 8 | |
HP:0012047 | Hemeralopia | 5 | |
HP:0012045 | Retinal flecks | 7 | |
HP:0002028 | Chronic diarrhea | 36 | |
HP:0009914 | Cyclopia | 4 | |
HP:0002024 | Malabsorption | 102 | |
HP:0002025 | Anal stenosis | 20 | |
HP:0002027 | Abdominal pain | 119 | |
HP:0002020 | Gastroesophageal reflux | 133 | |
HP:0002021 | Pyloric stenosis | 44 | |
HP:0002023 | Anal atresia | 61 | |
HP:0012227 | Urethral stricture | 5 | |
HP:0001618 | Dysphonia | 26 | |
HP:0001615 | Hoarse cry | 5 | |
HP:0001612 | Weak cry | 21 | |
HP:0001611 | Nasal speech | 54 | |
HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 11 | |
HP:0007475 | Congenital bullous ichthyosiform erythroderma | 4 | |
HP:0007477 | Abnormal dermatoglyphics | 30 | |
HP:0001641 | Abnormal pulmonary valve morphology | 30 | |
HP:0006870 | Lobar holoprosencephaly | 15 | |
HP:0005116 | Arterial tortuosity | 5 | |
HP:0005110 | Atrial fibrillation | 25 | |
HP:0005113 | Aortic arch aneurysm | 7 | |
HP:0006709 | Aplasia/Hypoplasia of the nipples | 8 | |
HP:0006703 | Aplasia/Hypoplasia of the lungs | 16 | |
HP:0001901 | Polycythemia | 8 | |
HP:0008207 | Primary adrenal insufficiency | 17 | |
HP:0100660 | Dyskinesia | 20 | |
HP:0008081 | Pes valgus | 11 | |
HP:0003613 | Antiphospholipid antibody positivity | 4 | |
HP:0002561 | Absent nipple | 4 | |
HP:0002566 | Intestinal malrotation | 29 | |
HP:0000703 | Dentinogenesis imperfecta | 7 | |
HP:0000707 | Abnormality of the nervous system | 12 | |
HP:0000705 | Amelogenesis imperfecta | 19 | |
HP:0000704 | Periodontitis | 22 | |
HP:0000709 | Psychosis | 36 | |
HP:0000708 | Behavioral abnormality | 51 | |
HP:0008554 | Cochlear malformation | 5 | |
HP:0100710 | Impulsivity | 16 | |
HP:0100716 | Self-injurious behavior | 20 | |
HP:0008551 | Microtia | 63 | |
HP:0011228 | Horizontal eyebrow | 8 | |
HP:0011229 | Broad eyebrow | 6 | |
HP:0008559 | Hypoplastic superior helix | 6 | |
HP:0004394 | Multiple gastric polyps | 4 | |
HP:0004467 | Preauricular pit | 31 | |
HP:0004396 | Poor appetite | 26 | |
HP:0004390 | Hamartomatous polyposis | 11 | |
HP:0004398 | Peptic ulcer | 5 | |
HP:0004469 | Chronic bronchitis | 13 | |
HP:0002705 | High, narrow palate | 66 | |
HP:0002700 | Large foramen magnum | 6 | |
HP:0000953 | Hyperpigmentation of the skin | 44 | |
HP:0005576 | Tubulointerstitial fibrosis | 13 | |
HP:0008434 | Hypoplastic cervical vertebrae | 4 | |
HP:0008430 | Anterior beaking of lumbar vertebrae | 4 | |
HP:0011343 | Moderate global developmental delay | 7 | |
HP:0007281 | Developmental stagnation | 8 | |
HP:0005938 | Abnormal respiratory motile cilium morphology | 4 | |
HP:0005930 | Abnormality of epiphysis morphology | 55 | |
HP:0008935 | Generalized neonatal hypotonia | 10 | |
HP:0008936 | Muscular hypotonia of the trunk | 82 | |
HP:0009701 | Metacarpal synostosis | 4 | |
HP:0009702 | Carpal synostosis | 14 | |
HP:0001139 | Choroideremia | 6 | |
HP:0001138 | Optic neuropathy | 5 | |
HP:0001133 | Constriction of peripheral visual field | 52 | |
HP:0001131 | Corneal dystrophy | 15 | |
HP:0001135 | Chorioretinal dystrophy | 5 | |
HP:0001425 | Heterogeneous | 238 | |
HP:0001427 | Mitochondrial inheritance | 44 | |
HP:0001426 | Multifactorial inheritance | 4 | |
HP:0001423 | X-linked dominant inheritance | 78 | |
HP:0001428 | Somatic mutation | 71 | |
HP:0000558 | Rieger anomaly | 8 | |
HP:0010543 | Opsoclonus | 5 | |
HP:0000556 | Retinal dystrophy | 58 | |
HP:0000557 | Buphthalmos | 13 | |
HP:0000554 | Uveitis | 9 | |
HP:0000552 | Tritanomaly | 4 | |
HP:0005257 | Thoracic hypoplasia | 19 | |
HP:0000550 | Undetectable electroretinogram | 20 | |
HP:0002953 | Vertebral compression fractures | 21 | |
HP:0002955 | Granulomatosis | 8 | |
HP:0002958 | Immune dysregulation | 5 | |
HP:0002959 | Impaired Ig class switch recombination | 4 | |
HP:0008672 | Calcium oxalate nephrolithiasis | 9 | |
HP:0003391 | Gowers sign | 35 | |
HP:0003390 | Sensory axonal neuropathy | 13 | |
HP:0003393 | Thenar muscle atrophy | 5 | |
HP:0003394 | Muscle cramps | 72 | |
HP:0003396 | Syringomyelia | 6 | |
HP:0001407 | Hepatic cysts | 9 | |
HP:0011947 | Respiratory tract infection | 6 | |
HP:0012023 | Galactosuria | 4 | |
HP:0009939 | Mandibular aplasia | 14 | |
HP:0002046 | Heat intolerance | 9 | |
HP:0002047 | Malignant hyperthermia | 12 | |
HP:0002044 | Zollinger-Ellison syndrome | 6 | |
HP:0002045 | Hypothermia | 5 | |
HP:0002043 | Esophageal stricture | 9 | |
HP:0002040 | Esophageal varix | 7 | |
HP:0002041 | Intractable diarrhea | 6 | |
HP:0002049 | Proximal renal tubular acidosis | 5 | |
HP:0012795 | Abnormality of the optic disc | 21 | |
HP:0007678 | Lacrimal duct stenosis | 4 | |
HP:0007676 | Hypoplasia of the iris | 17 | |
HP:0007677 | Vitelliform-like macular lesions | 4 | |
HP:0007675 | Progressive night blindness | 76 | |
HP:0001631 | Atrial septal defect | 122 | |
HP:0001634 | Mitral valve prolapse | 46 | |
HP:0001635 | Congestive heart failure | 79 | |
HP:0001636 | Tetralogy of Fallot | 52 | |
HP:0001638 | Cardiomyopathy | 61 | |
HP:0001639 | Hypertrophic cardiomyopathy | 112 | |
HP:0007495 | Prematurely aged appearance | 24 | |
HP:0025318 | Ovarian carcinoma | 4 | |
HP:0010547 | Muscle flaccidity | 5 | |
HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 21 | |
HP:0006813 | Hemiclonic seizures | 4 | |
HP:0001094 | Iridocyclitis | 9 | |
HP:0001095 | Hypertensive retinopathy | 13 | |
HP:0001096 | Keratoconjunctivitis | 4 | |
HP:0001097 | Keratoconjunctivitis sicca | 8 | |
HP:0001090 | Abnormally large globe | 11 | |
HP:0001092 | Absent lacrimal punctum | 5 | |
HP:0001093 | Optic nerve dysplasia | 7 | |
HP:0000943 | Dysostosis multiplex | 18 | |
HP:0000944 | Abnormality of the metaphysis | 78 | |
HP:0000947 | Dumbbell-shaped long bone | 4 | |
HP:0000946 | Hypoplastic ilia | 12 | |
HP:0002101 | Abnormal lung lobation | 11 | |
HP:0006721 | Acute lymphoblastic leukemia | 8 | |
HP:0006725 | Pancreatic adenocarcinoma | 8 | |
HP:0000551 | Abnormality of color vision | 41 | |
HP:0001894 | Thrombocytosis | 15 | |
HP:0001895 | Normochromic anemia | 6 | |
HP:0001896 | Reticulocytopenia | 12 | |
HP:0001897 | Normocytic anemia | 6 | |
HP:0001890 | Autoimmune hemolytic anemia | 16 | |
HP:0001891 | Iron deficiency anemia | 9 | |
HP:0001892 | Abnormal bleeding | 45 | |
HP:0001898 | Increased red blood cell mass | 4 | |
HP:0001899 | Increased hematocrit | 5 | |
HP:0005390 | Recurrent opportunistic infections | 6 | |
HP:0001344 | Absent speech | 75 | |
HP:0040129 | Abnormal nerve conduction velocity | 4 | |
HP:0001347 | Hyperreflexia | 294 | |
HP:0012804 | Corneal ulceration | 6 | |
HP:0012802 | Broad jaw | 6 | |
HP:0000142 | Abnormality of the vagina | 12 | |
HP:0000765 | Abnormality of the thorax | 22 | |
HP:0000764 | Peripheral axonal degeneration | 6 | |
HP:0000767 | Pectus excavatum | 131 | |
HP:0000766 | Abnormality of the sternum | 27 | |
HP:0000763 | Sensory neuropathy | 21 | |
HP:0000762 | Decreased nerve conduction velocity | 34 | |
HP:0008572 | External ear malformation | 40 | |
HP:0000768 | Pectus carinatum | 75 | |
HP:0100774 | Hyperostosis | 4 | |
HP:0100777 | Exostoses | 13 | |
HP:0100776 | Recurrent pharyngitis | 4 | |
HP:0100771 | Hypoperistalsis | 4 | |
HP:0003498 | Disproportionate short stature | 11 | |
HP:0003496 | Increased IgM level | 17 | |
HP:0009161 | Aplasia/Hypoplasia of the middle phalanx of the 5th finger | 5 | |
HP:0004442 | Sagittal craniosynostosis | 8 | |
HP:0100779 | Urogenital sinus anomaly | 17 | |
HP:0003493 | Antinuclear antibody positivity | 21 | |
HP:0004447 | Poikilocytosis | 6 | |
HP:0100585 | Telangiectasia of the skin | 44 | |
HP:0004389 | Intestinal pseudo-obstruction | 12 | |
HP:0004388 | Microcolon | 6 | |
HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 6 | |
HP:0002542 | Olivopontocerebellar atrophy | 6 | |
HP:0002540 | Inability to walk | 36 | |
HP:0030084 | Clinodactyly | 79 | |
HP:0003233 | Decreased circulating high-density lipoprotein levels | 11 | |
HP:0003236 | Elevated serum creatine phosphokinase | 139 | |
HP:0003237 | Increased IgG level | 4 | |
HP:0003234 | Decreased plasma carnitine | 9 | |
HP:0003235 | Hypermethioninemia | 7 | |
HP:0002729 | Follicular hyperplasia | 5 | |
HP:0002728 | Chronic mucocutaneous candidiasis | 9 | |
HP:0002726 | Recurrent Staphylococcus aureus infections | 5 | |
HP:0002725 | Systemic lupus erythematosus | 8 | |
HP:0002724 | Recurrent Aspergillus infections | 4 | |
HP:0002723 | Absence of bactericidal oxidative respiratory burst in phagocytes | 4 | |
HP:0002721 | Immunodeficiency | 116 | |
HP:0002720 | IgA deficiency | 21 | |
HP:0000837 | Increased circulating gonadotropin level | 27 | |
HP:0007517 | Palmoplantar cutis laxa | 4 | |
HP:0001520 | Large for gestational age | 14 | |
HP:0007807 | Optic nerve compression | 7 | |
HP:0009896 | Abnormality of the antitragus | 7 | |
HP:0009890 | High anterior hairline | 14 | |
HP:0009891 | Underdeveloped supraorbital ridges | 46 | |
HP:0009892 | Anotia | 8 | |
HP:0009767 | Aplasia/Hypoplasia of the phalanges of the hand | 6 | |
HP:0009765 | Low hanging columella | 7 | |
HP:0008850 | Severe postnatal growth retardation | 23 | |
HP:0001159 | Syndactyly | 50 | |
HP:0001409 | Portal hypertension | 31 | |
HP:0001408 | Bile duct proliferation | 12 | |
HP:0001155 | Abnormality of the hand | 43 | |
HP:0001406 | Intrahepatic cholestasis | 12 | |
HP:0001404 | Hepatocellular necrosis | 19 | |
HP:0001403 | Macrovesicular hepatic steatosis | 5 | |
HP:0001402 | Hepatocellular carcinoma | 29 | |
HP:0001153 | Septate vagina | 4 | |
HP:0001152 | Saccadic smooth pursuit | 8 | |
HP:0008388 | Abnormal toenail morphology | 24 | |
HP:0030502 | Retinoschisis | 4 | |
HP:0030500 | Yellow/white lesions of the macula | 5 | |
HP:0010529 | Echolalia | 23 | |
HP:0010526 | Dysgraphia | 19 | |
HP:0010522 | Dyslexia | 9 | |
HP:0010523 | Alexia | 8 | |
HP:0000570 | Abnormality of saccadic eye movements | 4 | |
HP:0000571 | Hypometric saccades | 4 | |
HP:0000572 | Visual loss | 65 | |
HP:0000573 | Retinal hemorrhage | 6 | |
HP:0000575 | Scotoma | 19 | |
HP:0000577 | Exotropia | 28 | |
HP:0005274 | Prominent nasal tip | 5 | |
HP:0000579 | Nasolacrimal duct obstruction | 10 | |
HP:0005272 | Prominent nasolabial fold | 8 | |
HP:0003001 | Glomus jugular tumor | 4 | |
HP:0003003 | Colon cancer | 17 | |
HP:0003002 | Breast carcinoma | 38 | |
HP:0011924 | Decreased activity of mitochondrial complex III | 4 | |
HP:0011923 | Decreased activity of mitochondrial complex I | 6 | |
HP:0011073 | Abnormality of dental color | 5 | |
HP:0002069 | Generalized tonic-clonic seizures | 48 | |
HP:0002061 | Lower limb spasticity | 22 | |
HP:0002062 | Morphological abnormality of the pyramidal tract | 14 | |
HP:0002063 | Rigidity | 65 | |
HP:0002066 | Gait ataxia | 71 | |
HP:0002067 | Bradykinesia | 42 | |
HP:0007651 | Ectropion of lower eyelids | 4 | |
HP:0007126 | Proximal amyotrophy | 16 | |
HP:0008609 | Morphological abnormality of the middle ear | 7 | |
HP:0006682 | Ventricular extrasystoles | 6 | |
HP:0005871 | Metaphyseal chondrodysplasia | 8 | |
HP:0006297 | Hypoplasia of dental enamel | 42 | |
HP:0006528 | Chronic lung disease | 6 | |
HP:0000969 | Edema | 57 | |
HP:0000968 | Ectodermal dysplasia | 22 | |
HP:0000963 | Thin skin | 66 | |
HP:0000962 | Hyperkeratosis | 65 | |
HP:0000961 | Cyanosis | 15 | |
HP:0000960 | Sacral dimple | 24 | |
HP:0000967 | Petechiae | 17 | |
HP:0000966 | Hypohidrosis | 43 | |
HP:0000965 | Cutis marmorata | 44 | |
HP:0000964 | Eczema | 48 | |
HP:0200020 | Corneal erosion | 23 | |
HP:0200021 | Down-sloping shoulders | 24 | |
HP:0006744 | Adrenocortical carcinoma | 6 | |
HP:0006747 | Ganglioneuroblastoma | 7 | |
HP:0006740 | Transitional cell carcinoma of the bladder | 19 | |
HP:0006748 | Adrenal pheochromocytoma | 12 | |
HP:0000294 | Low anterior hairline | 47 | |
HP:0000297 | Facial hypotonia | 13 | |
HP:0000293 | Full cheeks | 81 | |
HP:0000126 | Hydronephrosis | 90 | |
HP:0000298 | Mask-like facies | 28 | |
HP:0000124 | Renal tubular dysfunction | 19 | |
HP:0004602 | Cervical C2/C3 vertebral fusion | 4 | |
HP:0000122 | Unilateral renal agenesis | 27 | |
HP:0001212 | Prominent fingertip pads | 7 | |
HP:0001216 | Delayed ossification of carpal bones | 6 | |
HP:0001217 | Clubbing | 12 | |
HP:0000039 | Epispadias | 7 | |
HP:0005518 | Increased mean corpuscular volume | 7 | |
HP:0000748 | Inappropriate laughter | 5 | |
HP:0000746 | Delusions | 13 | |
HP:0005513 | Increased megakaryocyte count | 6 | |
HP:0000035 | Abnormality of the testis | 76 | |
HP:0000034 | Hydrocele testis | 11 | |
HP:0000037 | Male pseudohermaphroditism | 21 | |
HP:0000036 | Abnormality of the penis | 8 | |
HP:0100759 | Clubbing of fingers | 17 | |
HP:0100758 | Gangrene | 4 | |
HP:0011267 | Microtia, third degree | 9 | |
HP:0100753 | Schizophrenia | 9 | |
HP:0100750 | Atelectasis | 11 | |
HP:0003473 | Fatigable weakness | 12 | |
HP:0002529 | Neuronal loss in central nervous system | 32 | |
HP:0002524 | Cataplexy | 11 | |
HP:0002527 | Falls | 13 | |
HP:0002521 | Hypsarrhythmia | 44 | |
HP:0002522 | Areflexia of lower limbs | 10 | |
HP:0011483 | Anterior synechiae of the anterior chamber | 7 | |
HP:0003218 | Oroticaciduria | 5 | |
HP:0003219 | Ethylmalonic aciduria | 6 | |
HP:0003214 | Prolonged G2 phase of cell cycle | 4 | |
HP:0003215 | Dicarboxylic aciduria | 5 | |
HP:0003216 | Generalized amyloid deposition | 6 | |
HP:0003210 | Decreased methylmalonyl-CoA mutase activity | 4 | |
HP:0003212 | Increased IgE level | 11 | |
HP:0003213 | Deficient excision of UV-induced pyrimidine dimers in DNA | 4 | |
HP:0002297 | Red hair | 7 | |
HP:0002293 | Alopecia of scalp | 5 | |
HP:0002299 | Brittle hair | 35 | |
HP:0002871 | Central apnea | 8 | |
HP:0011120 | Concave nasal ridge | 7 | |
HP:0006191 | Deep palmar crease | 12 | |
HP:0009748 | Large earlobe | 14 | |
HP:0009743 | Distichiasis | 6 | |
HP:0008839 | Hypoplastic pelvis | 12 | |
HP:0007354 | Amyotrophic lateral sclerosis | 41 | |
HP:0001260 | Dysarthria | 273 | |
HP:0001177 | Preaxial hand polydactyly | 16 | |
HP:0001176 | Large hands | 28 | |
HP:0001171 | Split hand | 40 | |
HP:0001178 | Ulnar claw | 8 | |
HP:0005072 | Hyperextensibility at wrists | 4 | |
HP:0100523 | Liver abscess | 4 | |
HP:0100526 | Neoplasm of the lung | 4 | |
HP:0007020 | Progressive spastic paraplegia | 5 | |
HP:0010502 | Fibular bowing | 7 | |
HP:0010055 | Broad hallux | 37 | |
HP:0010508 | Metatarsus valgus | 16 | |
HP:0010059 | Broad hallux phalanx | 11 | |
HP:0005216 | Chewing difficulties | 4 | |
HP:0005214 | Intestinal obstruction | 18 | |
HP:0011907 | Reduced alpha/beta synthesis ratio | 4 | |
HP:0003029 | Enlargement of the ankles | 5 | |
HP:0011904 | Persistence of hemoglobin F | 7 | |
HP:0011902 | Abnormal hemoglobin | 9 | |
HP:0011900 | Hypofibrinogenemia | 5 | |
HP:0003022 | Hypoplasia of the ulna | 27 | |
HP:0003021 | Metaphyseal cupping | 10 | |
HP:0003020 | Enlargement of the wrists | 7 | |
HP:0003027 | Mesomelia | 13 | |
HP:0003026 | Short long bone | 31 | |
HP:0002888 | Ependymoma | 7 | |
HP:0002883 | Hyperventilation | 6 | |
HP:0002884 | Hepatoblastoma | 5 | |
HP:0002885 | Medulloblastoma | 12 | |
HP:0002080 | Intention tremor | 29 | |
HP:0002086 | Abnormality of the respiratory system | 4 | |
HP:0002085 | Occipital encephalocele | 17 | |
HP:0002089 | Pulmonary hypoplasia | 69 | |
HP:0030329 | Retinal thinning | 9 | |
HP:0008625 | Severe sensorineural hearing impairment | 5 | |
HP:0007103 | Hypointensity of cerebral white matter on MRI | 5 | |
HP:0007108 | Demyelinating peripheral neuropathy | 10 | |
HP:0007109 | Periventricular cysts | 7 | |
HP:0025354 | Abnormal cellular phenotype | 4 | |
HP:0006501 | Aplasia/Hypoplasia of the radius | 36 | |
HP:0000907 | Anterior rib cupping | 7 | |
HP:0000900 | Thickened ribs | 6 | |
HP:0000902 | Rib fusion | 21 | |
HP:0200044 | Porokeratosis | 5 | |
HP:0200042 | Skin ulcer | 58 | |
HP:0200043 | Verrucae | 12 | |
HP:0200040 | Epidermoid cyst | 5 | |
HP:0200041 | Skin erosion | 13 | |
HP:0006767 | Pituitary prolactin cell adenoma | 8 | |
HP:0006765 | Chondrosarcoma | 4 | |
HP:0040160 | Generalized osteoporosis | 9 | |
HP:0008214 | Decreased serum estradiol | 27 | |
HP:0005681 | Juvenile rheumatoid arthritis | 12 | |
HP:0005684 | Distal arthrogryposis | 11 | |
HP:0011342 | Mild global developmental delay | 19 | |
HP:0011344 | Severe global developmental delay | 57 | |
HP:0008213 | Gonadotropin deficiency | 6 | |
HP:0001238 | Slender finger | 11 | |
HP:0001239 | Wrist flexion contracture | 7 | |
HP:0001230 | Broad metacarpals | 6 | |
HP:0001231 | Abnormality of the fingernails | 78 | |
HP:0001233 | 2-3 finger syndactyly | 9 | |
HP:0000013 | Hypoplasia of the uterus | 36 | |
HP:0000012 | Urinary urgency | 20 | |
HP:0000011 | Neurogenic bladder | 8 | |
HP:0000010 | Recurrent urinary tract infections | 35 | |
HP:0000016 | Urinary retention | 6 | |
HP:0000015 | Bladder diverticulum | 11 | |
HP:0004484 | Craniofacial asymmetry | 5 | |
HP:0004485 | Cessation of head growth | 5 | |
HP:0004481 | Progressive macrocephaly | 24 | |
HP:0004482 | Relative macrocephaly | 18 | |
HP:0000940 | Abnormal diaphysis morphology | 10 | |
HP:0200008 | Intestinal polyposis | 6 | |
HP:0002506 | Diffuse cerebral atrophy | 10 | |
HP:0002503 | Spinocerebellar tract degeneration | 4 | |
HP:0002500 | Abnormality of the cerebral white matter | 28 | |
HP:0002509 | Limb hypertonia | 13 | |
HP:0003275 | Narrow pelvis bone | 8 | |
HP:0003272 | Abnormality of the hip bone | 19 | |
HP:0003273 | Hip contracture | 20 | |
HP:0003270 | Abdominal distention | 62 | |
HP:0001141 | Severe visual impairment | 27 | |
HP:0012384 | Rhinitis | 10 | |
HP:0005994 | Nodular goiter | 4 | |
HP:0005990 | Thyroid hypoplasia | 5 | |
HP:0007754 | Macular dystrophy | 13 | |
HP:0007750 | Hypoplasia of the fovea | 13 | |
HP:0007201 | Cerebral artery atherosclerosis | 6 | |
HP:0007598 | Bilateral single transverse palmar creases | 44 | |
HP:0006977 | Grammar-specific speech disorder | 8 | |
HP:0006979 | Sleep-wake cycle disturbance | 5 | |
HP:0001156 | Brachydactyly | 188 | |
HP:0030151 | Cholangitis | 4 | |
HP:0007371 | Corpus callosum atrophy | 8 | |
HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 31 | |
HP:0100018 | Nuclear cataract | 7 | |
HP:0008818 | Large iliac wings | 4 | |
HP:0001151 | Impaired horizontal smooth pursuit | 6 | |
HP:0000463 | Anteverted nares | 280 | |
HP:0000460 | Narrow nose | 11 | |
HP:0000467 | Neck muscle weakness | 26 | |
HP:0000464 | Abnormality of the neck | 20 | |
HP:0000465 | Webbed neck | 48 | |
HP:0008258 | Congenital adrenal hyperplasia | 5 | |
HP:0100658 | Cellulitis | 12 | |
HP:0100659 | Abnormality of the cerebral vasculature | 9 | |
HP:0008250 | Infantile hypercalcemia | 4 | |
HP:0100651 | Type I diabetes mellitus | 9 | |
HP:0008255 | Transient neonatal diabetes mellitus | 5 | |
HP:0008256 | Adrenocortical adenoma | 5 | |
HP:0011386 | Narrow internal auditory canal | 8 | |
HP:0003049 | Ulnar deviation of the wrist | 10 | |
HP:0009023 | Abdominal wall muscle weakness | 8 | |
HP:0009025 | Increased connective tissue | 9 | |
HP:0003040 | Arthropathy | 14 | |
HP:0009027 | Foot dorsiflexor weakness | 44 | |
HP:0003042 | Elbow dislocation | 34 | |
HP:0002312 | Clumsiness | 14 | |
HP:0002313 | Spastic paraparesis | 22 | |
HP:0002310 | Orofacial dyskinesia | 8 | |
HP:0002311 | Incoordination | 17 | |
HP:0002317 | Unsteady gait | 45 | |
HP:0002314 | Degeneration of the lateral corticospinal tracts | 8 | |
HP:0002315 | Headache | 40 | |
HP:0011039 | Abnormality of the helix | 16 | |
HP:0011034 | Amyloidosis | 4 | |
HP:0007166 | Paroxysmal dyskinesia | 4 | |
HP:0007165 | Periventricular gray matter heterotopia | 7 | |
HP:0005830 | Flexion contracture of toe | 8 | |
HP:0012400 | Abnormal aldolase level | 15 | |
HP:0012407 | Scissor gait | 5 | |
HP:0007787 | Posterior subcapsular cataract | 8 | |
HP:0006568 | Increased hepatic glycogen content | 4 | |
HP:0006565 | Increased hepatocellular lipid droplets | 13 | |
HP:0006562 | Viral hepatitis | 4 | |
HP:0000926 | Platyspondyly | 73 | |
HP:0000925 | Abnormality of the vertebral column | 5 | |
HP:0000924 | Abnormality of the skeletal system | 12 | |
HP:0000923 | Beaded ribs | 4 | |
HP:0000922 | Posterior rib cupping | 5 | |
HP:0000921 | Missing ribs | 10 | |
HP:0000920 | Enlargement of the costochondral junction | 6 | |
HP:0200063 | Colorectal polyposis | 10 | |
HP:0006785 | Limb-girdle muscular dystrophy | 6 | |
HP:0001032 | Absent distal interphalangeal creases | 4 | |
HP:0001030 | Fragile skin | 21 | |
HP:0001031 | Subcutaneous lipoma | 9 | |
HP:0001788 | Premature rupture of membranes | 5 | |
HP:0001789 | Hydrops fetalis | 31 | |
HP:0001034 | Hypermelanotic macule | 46 | |
HP:0001786 | Narrow foot | 4 | |
HP:0001780 | Abnormality of toe | 4 | |
HP:0001783 | Broad metatarsal | 6 | |
HP:0000253 | Progressive microcephaly | 50 | |
HP:0000256 | Macrocephaly | 209 | |
HP:0100825 | Cheilitis | 9 | |
HP:0100829 | Galactorrhea | 5 | |
HP:0009237 | Short 5th finger | 11 | |
HP:0009239 | Aplasia/Hypoplasia of the distal phalanx of the 5th finger | 7 | |
HP:0001257 | Spasticity | 291 | |
HP:0001254 | Lethargy | 99 | |
HP:0001252 | Muscular hypotonia | 427 | |
HP:0001251 | Ataxia | 342 | |
HP:0001258 | Spastic paraplegia | 66 | |
HP:0001259 | Coma | 65 | |
HP:0000075 | Renal duplication | 5 | |
HP:0000074 | Ureteropelvic junction obstruction | 10 | |
HP:0000077 | Abnormality of the kidney | 11 | |
HP:0100798 | Fingernail dysplasia | 7 | |
HP:0000070 | Ureterocele | 5 | |
HP:0000073 | Ureteral duplication | 10 | |
HP:0000072 | Hydroureter | 23 | |
HP:0100792 | Acantholysis | 7 | |
HP:0100790 | Hernia | 12 | |
HP:0100797 | Toenail dysplasia | 6 | |
HP:0100796 | Orchitis | 14 | |
HP:0100775 | Dural ectasia | 4 | |
HP:0003785 | Decreased CSF homovanillic acid | 4 | |
HP:0003782 | Eunuchoid habitus | 19 | |
HP:0003781 | Excessive salivation | 9 | |
HP:0000789 | Infertility | 43 | |
HP:0010719 | Abnormality of hair texture | 6 | |
HP:0000787 | Nephrolithiasis | 45 | |
HP:0003259 | Elevated serum creatinine | 10 | |
HP:0004444 | Spherocytosis | 5 | |
HP:0003521 | Disproportionate short-trunk short stature | 19 | |
HP:0003524 | Decreased methionine synthase activity | 5 | |
HP:0004445 | Elliptocytosis | 8 | |
HP:0004446 | Stomatocytosis | 9 | |
HP:0002948 | Vertebral fusion | 26 | |
HP:0002789 | Tachypnea | 25 | |
HP:0002788 | Recurrent upper respiratory tract infections | 26 | |
HP:0002781 | Upper airway obstruction | 7 | |
HP:0002780 | Bronchomalacia | 9 | |
HP:0002783 | Recurrent lower respiratory tract infections | 12 | |
HP:0410018 | Recurrent ear infections | 4 | |
HP:0009830 | Peripheral neuropathy | 62 | |
HP:0009836 | Broad distal phalanx of finger | 5 | |
HP:0001531 | Failure to thrive in infancy | 40 | |
HP:0009835 | Aplasia/Hypoplasia of the distal phalanges of the hand | 5 | |
HP:0002121 | Absence seizures | 22 | |
HP:0002120 | Cerebral cortical atrophy | 113 | |
HP:0009839 | Osteolytic defects of the distal phalanges of the hand | 4 | |
HP:0002127 | Abnormal upper motor neuron morphology | 13 | |
HP:0002126 | Polymicrogyria | 77 | |
HP:0012658 | Abnormal brain FDG positron emission tomography | 11 | |
HP:0006956 | Dilation of lateral ventricles | 7 | |
HP:0006957 | Loss of ability to walk | 7 | |
HP:0006958 | Abnormal auditory evoked potentials | 8 | |
HP:0007311 | Short stepped shuffling gait | 6 | |
HP:0008872 | Feeding difficulties in infancy | 230 | |
HP:0005789 | Generalized osteosclerosis | 5 | |
HP:0000888 | Horizontal ribs | 10 | |
HP:0004782 | Hypotrichosis of the scalp | 10 | |
HP:0000448 | Prominent nose | 40 | |
HP:0000444 | Convex nasal ridge | 49 | |
HP:0000445 | Wide nose | 66 | |
HP:0000446 | Narrow nasal bridge | 17 | |
HP:0100678 | Premature skin wrinkling | 8 | |
HP:0100679 | Lack of skin elasticity | 18 | |
HP:0100670 | Rough bone trabeculation | 17 | |
HP:0100671 | Abnormal trabecular bone morphology | 6 | |
HP:0003067 | Madelung deformity | 5 | |
HP:0003063 | Abnormality of the humerus | 6 | |
HP:0004565 | Severe platyspondyly | 5 | |
HP:0009004 | Hypoplasia of the musculature | 6 | |
HP:0004568 | Beaking of vertebral bodies | 12 | |
HP:0002335 | Agenesis of cerebellar vermis | 6 | |
HP:0002331 | Recurrent paroxysmal headache | 13 | |
HP:0002333 | Motor deterioration | 7 | |
HP:0008660 | Renotubular dysgenesis | 4 | |
HP:0008661 | Urethral stenosis | 12 | |
HP:0008665 | Clitoral hypertrophy | 54 | |
HP:0008669 | Abnormal spermatogenesis | 5 | |
HP:0100242 | Sarcoma | 11 | |
HP:0005819 | Short middle phalanx of finger | 16 | |
HP:0005815 | Supernumerary ribs | 11 | |
HP:0012465 | Elevated hepatic iron concentration | 4 | |
HP:0012469 | Infantile spasms | 18 | |
HP:0006543 | Cardiorespiratory arrest | 4 | |
HP:0006237 | Prominent interphalangeal joints | 4 | |
HP:0006549 | Unilateral primary pulmonary dysgenesis | 5 | |
HP:0200084 | Giant cell hepatitis | 4 | |
HP:0001014 | Angiokeratoma | 4 | |
HP:0001015 | Prominent superficial veins | 5 | |
HP:0001017 | Anemic pallor | 4 | |
HP:0001010 | Hypopigmentation of the skin | 25 | |
HP:0001012 | Multiple lipomas | 11 | |
HP:0001013 | Eruptive xanthomas | 5 | |
HP:0001019 | Erythroderma | 34 | |
HP:0008069 | Neoplasm of the skin | 15 | |
HP:0008066 | Abnormal blistering of the skin | 64 | |
HP:0100807 | Long fingers | 12 | |
HP:0100806 | Sepsis | 9 | |
HP:0001278 | Orthostatic hypotension | 16 | |
HP:0001279 | Syncope | 27 | |
HP:0001270 | Motor delay | 217 | |
HP:0001271 | Polyneuropathy | 31 | |
HP:0001272 | Cerebellar atrophy | 158 | |
HP:0001273 | Abnormality of the corpus callosum | 7 | |
HP:0001274 | Agenesis of corpus callosum | 127 | |
HP:0001276 | Hypertonia | 114 | |
HP:0040079 | Irregular dentition | 4 | |
HP:0040078 | Axonal degeneration | 8 | |
HP:0000076 | Vesicoureteral reflux | 69 | |
HP:0000278 | Retrognathia | 109 | |
HP:0000273 | Facial grimacing | 4 | |
HP:0000272 | Malar flattening | 157 | |
HP:0000271 | Abnormality of the face | 13 | |
HP:0000270 | Delayed cranial suture closure | 40 | |
HP:0003469 | Peripheral dysmyelination | 4 | |
HP:0000275 | Narrow face | 62 | |
HP:0000274 | Small face | 10 | |
HP:0004308 | Ventricular arrhythmia | 11 | |
HP:0001909 | Leukemia | 18 | |
HP:0010818 | Generalized tonic seizures | 10 | |
HP:0001902 | Giant platelets | 7 | |
HP:0001903 | Anemia | 171 | |
HP:0001900 | Increased hemoglobin | 6 | |
HP:0010819 | Atonic seizures | 15 | |
HP:0001907 | Thromboembolism | 5 | |
HP:0001904 | Autoimmune neutropenia | 5 | |
HP:0001905 | Congenital thrombocytopenia | 4 | |
HP:0000058 | Abnormality of the labia | 11 | |
HP:0000055 | Abnormality of female external genitalia | 9 | |
HP:0000054 | Micropenis | 139 | |
HP:0000053 | Macroorchidism | 8 | |
HP:0000051 | Perineal hypospadias | 5 | |
HP:0000050 | Hypoplastic male external genitalia | 8 | |
HP:0003508 | Proportionate short stature | 8 | |
HP:0004220 | Short middle phalanx of the 5th finger | 13 | |
HP:0003502 | Mild short stature | 16 | |
HP:0100864 | Short femoral neck | 26 | |
HP:0410030 | Cleft lip | 6 | |
HP:0009816 | Lower limb undergrowth | 4 | |
HP:0002100 | Recurrent aspiration pneumonia | 4 | |
HP:0002107 | Pneumothorax | 8 | |
HP:0009811 | Abnormality of the elbow | 7 | |
HP:0002105 | Hemoptysis | 6 | |
HP:0002104 | Apnea | 70 | |
HP:0000079 | Abnormality of the urinary system | 27 | |
HP:0007552 | Abnormal subcutaneous fat tissue distribution | 6 | |
HP:0007556 | Plantar hyperkeratosis | 7 | |
HP:0100582 | Nasal polyposis | 12 | |
HP:0100589 | Urogenital fistula | 4 | |
HP:0007334 | Generalized tonic-clonic seizures with focal onset | 7 | |
HP:0007333 | Hypoplasia of the frontal lobes | 23 | |
HP:0001482 | Subcutaneous nodule | 63 | |
HP:0001480 | Freckling | 36 | |
HP:0001488 | Bilateral ptosis | 11 | |
HP:0006934 | Congenital nystagmus | 4 | |
HP:0006685 | Endocardial fibrosis | 5 | |
HP:0005019 | Diaphyseal thickening | 11 | |
HP:0010034 | Short 1st metacarpal | 16 | |
HP:0010693 | Pulverulent cataract | 5 | |
HP:0000426 | Prominent nasal bridge | 84 | |
HP:0000421 | Epistaxis | 50 | |
HP:0011341 | Long upper lip | 5 | |
HP:0100615 | Ovarian neoplasm | 18 | |
HP:0100613 | Death in early adulthood | 17 | |
HP:0011611 | Interrupted aortic arch | 8 | |
HP:0009064 | Generalized lipodystrophy | 4 | |
HP:0002359 | Frequent falls | 24 | |
HP:0002356 | Writer's cramp | 12 | |
HP:0002357 | Dysphasia | 38 | |
HP:0002354 | Memory impairment | 42 | |
HP:0002355 | Difficulty walking | 57 | |
HP:0002352 | Leukoencephalopathy | 34 | |
HP:0002353 | EEG abnormality | 136 | |
HP:0002350 | Cerebellar cyst | 8 | |
HP:0012197 | Insulinoma | 5 | |
HP:0012191 | B-cell lymphoma | 7 | |
HP:0006288 | Advanced eruption of teeth | 8 | |
HP:0006535 | Recurrent intrapulmonary hemorrhage | 4 | |
HP:0006286 | Yellow-brown discoloration of the teeth | 5 | |
HP:0012448 | Delayed myelination | 45 | |
HP:0012444 | Brain atrophy | 19 | |
HP:0012334 | Extrahepatic cholestasis | 8 | |
HP:0001075 | Atrophic scars | 19 | |
HP:0001072 | Thickened skin | 27 | |
HP:0001073 | Cigarette-paper scars | 5 | |
HP:0001070 | Mottled pigmentation | 4 | |
HP:0100869 | Palmar telangiectasia | 5 | |
HP:0008046 | Abnormality of the retinal vasculature | 84 | |
HP:0001291 | Abnormality of the cranial nerves | 8 | |
HP:0001297 | Stroke | 27 | |
HP:0001298 | Encephalopathy | 55 | |
HP:0000219 | Thin upper lip vermilion | 118 | |
HP:0000218 | High palate | 266 | |
HP:0000215 | Thick upper lip vermilion | 7 | |
HP:0000214 | Lip telangiectasia | 4 | |
HP:0000217 | Xerostomia | 50 | |
HP:0000216 | Broad secondary alveolar ridge | 4 | |
HP:0000211 | Trismus | 9 | |
HP:0000212 | Gingival overgrowth | 45 | |
HP:0003743 | Genetic anticipation | 7 | |
HP:0003741 | Congenital muscular dystrophy | 15 | |
HP:0003745 | Sporadic | 84 | |
HP:0003749 | Pelvic girdle muscle weakness | 10 | |
HP:0000977 | Soft skin | 18 | |
HP:0001928 | Abnormality of coagulation | 36 | |
HP:0001929 | Reduced factor XI activity | 5 | |
HP:0001924 | Sideroblastic anemia | 10 | |
HP:0001927 | Acanthocytosis | 8 | |
HP:0001920 | Renal artery stenosis | 13 | |
HP:0001922 | Vacuolated lymphocytes | 8 | |
HP:0001923 | Reticulocytosis | 23 | |
HP:0010759 | Prominence of the premaxilla | 4 | |
HP:0010751 | Dimple chin | 10 | |
HP:0005590 | Spotty hypopigmentation | 4 | |
HP:0005592 | Giant melanosomes in melanocytes | 4 | |
HP:0005595 | Generalized hyperkeratosis | 18 | |
HP:0005599 | Hypopigmentation of hair | 18 |
ID | Description | # Genes | Add |
---|---|---|---|
DISEASE783 | Asthma | 60 | |
DISEASE782 | Systemic lupus erythematosus | 90 | |
DISEASE1430 | Menarche and menopause (age at onset) | 5 | |
DISEASE787 | Narcolepsy | 8 | |
DISEASE786 | Shingles | 19 | |
DISEASE785 | Central corneal thickness | 4 | |
DISEASE1385 | Glycemic traits | 5 | |
DISEASE1381 | Severe influenza A (H1N1) infection | 24 | |
DISEASE877 | Body mass index (joint analysis main effects and smoking interaction) | 31 | |
DISEASE873 | Proinsulin levels | 8 | |
DISEASE872 | Attention deficit hyperactivity disorder | 5 | |
DISEASE1659 | Serum total cholesterol levels | 5 | |
DISEASE124 | Hepcidin levels | 4 | |
DISEASE121 | Atopic march | 7 | |
DISEASE129 | HDL Cholesterol - Triglycerides (HDLC-TG) | 8 | |
DISEASE128 | Homeostasis model assessment of beta-cell function | 8 | |
DISEASE1432 | Brown vs. non-brown hair color | 4 | |
DISEASE1389 | Axial length | 4 | |
DISEASE1434 | Type 2 diabetes | 117 | |
DISEASE1715 | Lymphocyte counts | 152 | |
DISEASE309 | Pulse pressure | 62 | |
DISEASE308 | Fasting blood insulin (BMI interaction) | 5 | |
DISEASE306 | Vitamin D levels (dietary vitamin D intake interaction) | 5 | |
DISEASE303 | Waist circumference adjusted for BMI in active individuals | 43 | |
DISEASE301 | Hypertension | 15 | |
DISEASE1712 | Macrophage inflammatory protein 1b levels | 50 | |
DISEASE270 | Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor | 7 | |
DISEASE277 | P wave duration | 13 | |
DISEASE1710 | Neuroblastoma | 5 | |
DISEASE660 | Lipid traits | 12 | |
DISEASE662 | Anti-thyroid drug induced agranulocytosis | 4 | |
DISEASE663 | Total cholesterol levels | 57 | |
DISEASE665 | Subclinical trait of interstitial lung disease (basilar peel-core ratio of high attentuation areas on CT scan) | 5 | |
DISEASE669 | Chronic inflammatory diseases (ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | 153 | |
DISEASE463 | Lung cancer in ever smokers | 26 | |
DISEASE460 | Allergic sensitization | 10 | |
DISEASE466 | Glaucoma (primary angle closure) | 9 | |
DISEASE464 | Systemic lupus erythematosus or rheumatoid arthritis | 8 | |
DISEASE465 | Pericardial adipose tissue adjusted for height and weight | 4 | |
DISEASE1731 | Celiac disease | 43 | |
DISEASE1732 | Optic disc area | 15 | |
DISEASE1177 | Vitamin D levels | 18 | |
DISEASE1453 | BMI (adjusted for smoking behaviour) | 34 | |
DISEASE1392 | Intelligence | 17 | |
DISEASE1390 | Lipoprotein phospholipase A2 activity in cardiovascular disease | 11 | |
DISEASE1396 | Alzheimer's disease (cognitive decline) | 13 | |
DISEASE1397 | Systemic sclerosis | 19 | |
DISEASE1394 | Orofacial clefts | 10 | |
DISEASE1395 | Vitamin B levels in ischemic stroke | 4 | |
DISEASE426 | Age-related macular degeneration (geographic atrophy) | 4 | |
DISEASE840 | Birth weight | 52 | |
DISEASE842 | Atrial fibrillation | 25 | |
DISEASE843 | Glycerophospholipid levels | 11 | |
DISEASE1644 | Common traits (Other) | 7 | |
DISEASE689 | Breast size | 9 | |
DISEASE420 | Neutrophil percentage of granulocytes | 146 | |
DISEASE1642 | Bipolar disorder lithium response (categorical) or schizophrenia | 4 | |
DISEASE1265 | Acute lymphoblastic leukemia (B-cell precursor) | 7 | |
DISEASE687 | Thyroid peroxidase antibody levels | 4 | |
DISEASE685 | Coronary artery disease | 195 | |
DISEASE1651 | Ulcerative colitis | 99 | |
DISEASE1454 | Alcohol consumption | 10 | |
DISEASE1154 | Freckling | 4 | |
DISEASE1157 | Myopia (pathological) | 28 | |
DISEASE1179 | Endometrial cancer | 4 | |
DISEASE1701 | Acute lymphoblastic leukemia (childhood) | 12 | |
DISEASE1703 | Permanent tooth development | 4 | |
DISEASE207 | Allergic disease (asthma, hay fever or eczema) | 111 | |
DISEASE200 | C-reactive protein and white blood cell count | 8 | |
DISEASE209 | Squamous cell carcinoma | 13 | |
DISEASE518 | Blood and toenail selenium levels | 6 | |
DISEASE512 | Trans fatty acid levels | 5 | |
DISEASE513 | Mean corpuscular hemoglobin concentration | 83 | |
DISEASE515 | Male-pattern baldness | 44 | |
DISEASE1706 | Immune reponse to smallpox (secreted IFN-alpha) | 13 | |
DISEASE676 | Advanced age-related macular degeneration | 35 | |
DISEASE1092 | Cholelithiasis-related traits in sickle cell anemia | 8 | |
DISEASE1098 | Amyotrophic lateral sclerosis (sporadic) | 8 | |
DISEASE1554 | Esophageal cancer | 8 | |
DISEASE475 | Putamen volume | 5 | |
DISEASE1254 | Alcohol dependence | 5 | |
DISEASE478 | Complement C3 and C4 levels | 13 | |
DISEASE1258 | Coronary heart disease | 29 | |
DISEASE1466 | QRS complex (12-leadsum) | 13 | |
DISEASE1556 | Vitamin B12 levels | 7 | |
DISEASE1745 | Cutaneous lupus erythematosus | 6 | |
DISEASE1747 | Granulocyte count | 127 | |
DISEASE1417 | HDL cholesterol levels | 61 | |
DISEASE1410 | Crohn's disease | 166 | |
DISEASE1679 | Photic sneeze reflex | 19 | |
DISEASE859 | IgG galactosylation phenotypes (multivariate analysis) | 7 | |
DISEASE858 | Black vs. blond hair color | 4 | |
DISEASE854 | QRS complex (Sokolow-Lyon) | 4 | |
DISEASE853 | Gut microbiota (beta diversity) | 14 | |
DISEASE1078 | Endometriosis | 13 | |
DISEASE1071 | Esophageal squamous cell carcinoma | 5 | |
DISEASE692 | C-reactive protein levels or triglyceride levels (pleiotropy) | 16 | |
DISEASE694 | Febrile seizures (MMR vaccine-related) | 4 | |
DISEASE1096 | Limited cutaneous systemic scleroderma | 5 | |
DISEASE1167 | D-dimer levels | 4 | |
DISEASE1683 | Chronic lymphocytic leukemia | 44 | |
DISEASE1686 | Body mass index in physically inactive individuals | 4 | |
DISEASE922 | Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) | 46 | |
DISEASE921 | Diastolic blood pressure | 84 | |
DISEASE1126 | Renal function-related traits (sCR) | 7 | |
DISEASE215 | Fasting blood glucose | 23 | |
DISEASE217 | Polycystic ovary syndrome | 13 | |
DISEASE211 | Immune reponse to smallpox (secreted IL-2) | 6 | |
DISEASE212 | HIV-1 control | 4 | |
DISEASE219 | Exudative age-related macular degeneration | 7 | |
DISEASE1517 | Body mass index (adult) | 7 | |
DISEASE501 | Thyroid peroxidase antibody positivity | 4 | |
DISEASE503 | Alzheimer's disease | 14 | |
DISEASE505 | Immature fraction of reticulocytes | 110 | |
DISEASE1086 | Venous thromboembolism | 13 | |
DISEASE1087 | Cutaneous malignant melanoma | 4 | |
DISEASE1084 | Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction) | 13 | |
DISEASE1085 | Select biomarker traits | 4 | |
DISEASE1082 | Thyroid hormone levels | 17 | |
DISEASE1080 | Renal cell carcinoma | 12 | |
DISEASE1089 | High light scatter reticulocyte percentage of red cells | 151 | |
DISEASE1241 | Waist-to-hip ratio adjusted for BMI in non-smokers | 14 | |
DISEASE1246 | Bone mineral density (spine) | 17 | |
DISEASE443 | Mean arterial pressure | 7 | |
DISEASE449 | Plateletcrit | 216 | |
DISEASE489 | Eosinophil percentage of white cells | 159 | |
DISEASE997 | Cerebrospinal fluid t-tau:AB1-42 ratio | 17 | |
DISEASE994 | IgG bisecting N-acetyl glucosamine phenotypes (multivariate analysis) | 4 | |
DISEASE992 | Age-related hearing impairment (SNP x SNP interaction) | 10 | |
DISEASE993 | Esophageal adenocarcinoma | 5 | |
DISEASE1408 | Nodular sclerosis Hodgkin lymphoma | 8 | |
DISEASE1402 | Adiponectin levels | 12 | |
DISEASE89 | Paget's disease | 6 | |
DISEASE82 | White matter hyperintensity burden | 9 | |
DISEASE81 | Waist-hip ratio | 31 | |
DISEASE80 | Alcohol consumption in current drinkers | 6 | |
DISEASE86 | Diisocyanate-induced asthma | 5 | |
DISEASE1669 | Cirrhosis (alcohol related) | 4 | |
DISEASE1667 | Neutrophil count | 137 | |
DISEASE1664 | Essential tremor | 7 | |
DISEASE1665 | Telomere length | 6 | |
DISEASE1660 | Eosinophilic esophagitis | 6 | |
DISEASE1069 | Bone mineral density (hip) | 8 | |
DISEASE1062 | Body fat percentage | 12 | |
DISEASE1063 | Multiple sclerosis | 103 | |
DISEASE1065 | Gut microbiota (functional units) | 24 | |
DISEASE765 | Basophil percentage of granulocytes | 47 | |
DISEASE763 | Prostate-specific antigen levels | 26 | |
DISEASE1728 | Sjögren's syndrome | 11 | |
DISEASE1638 | Celiac disease or Rheumatoid arthritis | 11 | |
DISEASE1387 | Calcium levels | 5 | |
DISEASE1637 | Obesity (early onset extreme) | 6 | |
DISEASE441 | C-reactive protein levels or total cholesterol levels (pleiotropy) | 18 | |
DISEASE1636 | Response to antipsychotic treatment | 4 | |
DISEASE442 | Depressive symptoms (multi-trait analysis) | 47 | |
DISEASE198 | Gut microbiota (bacterial taxa) | 30 | |
DISEASE228 | Sitting height ratio | 7 | |
DISEASE229 | IgG glycosylation | 16 | |
DISEASE226 | Schizophrenia or bipolar disorder | 4 | |
DISEASE539 | Abdominal aortic aneurysm | 9 | |
DISEASE535 | Nasopharyngeal carcinoma | 8 | |
DISEASE537 | Prostate-specific antigen levels (conditioned on lead SNPs) | 6 | |
DISEASE531 | Oral cavity and pharyngeal cancer | 6 | |
DISEASE532 | Bladder cancer | 14 | |
DISEASE451 | Cutaneous squamous cell carcinoma | 8 | |
DISEASE450 | Lymphoma | 5 | |
DISEASE1275 | Lung function (FEV1/FVC) | 35 | |
DISEASE1274 | Daytime sleepiness | 4 | |
DISEASE1270 | Waist Circumference - Triglycerides (WC-TG) | 6 | |
DISEASE1278 | Amyotrophic lateral sclerosis | 10 | |
DISEASE1729 | Total bilirubin levels in HIV-1 infection | 9 | |
DISEASE989 | Subcutaneous adipose tissue | 6 | |
DISEASE988 | Ovarian cancer in BRCA1 mutation carriers | 4 | |
DISEASE1188 | B-cell malignancies (chronic lymphocytic leukemia, Hodgkin lymphoma or multiple myeloma) (pleiotropy) | 8 | |
DISEASE984 | Systemic lupus erythematosus and Systemic sclerosis | 8 | |
DISEASE1185 | Post bronchodilator FEV1/FVC ratio | 26 | |
DISEASE1182 | Self-reported allergy | 13 | |
DISEASE982 | Coffee consumption | 8 | |
DISEASE1479 | Urinary metabolites | 22 | |
DISEASE1478 | Hematology traits | 13 | |
DISEASE1474 | Pre bronchodilator FEV1/FVC ratio | 4 | |
DISEASE1473 | Magnesium levels | 4 | |
DISEASE1470 | Alopecia areata | 8 | |
DISEASE94 | Heart rate variability traits (SDNN) | 7 | |
DISEASE93 | Serous invasive ovarian cancer | 10 | |
DISEASE1691 | Cerebrospinal fluid AB1-42 levels | 10 | |
DISEASE1690 | Total body bone mineral density (age 0-15) | 8 | |
DISEASE1567 | Optic cup area | 15 | |
DISEASE1695 | Hypothyroidism | 20 | |
DISEASE1566 | Pursuit maintenance gain in psychotic disorders | 4 | |
DISEASE1502 | Resistin levels | 4 | |
DISEASE1059 | IgA nephropathy | 17 | |
DISEASE1058 | Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) | 11 | |
DISEASE1056 | Metabolite levels (lipoprotein measures) | 29 | |
DISEASE1050 | Idiopathic membranous nephropathy | 19 | |
DISEASE912 | Renal function and chronic kidney disease | 4 | |
DISEASE189 | Non-albumin protein levels | 4 | |
DISEASE188 | Gamma gluatamyl transferase levels | 4 | |
DISEASE238 | Heart rate | 16 | |
DISEASE231 | Invasive epithelial ovarian cancer | 8 | |
DISEASE230 | Phospholipid levels in medium HDL | 4 | |
DISEASE522 | Pancreatic cancer | 15 | |
DISEASE521 | Lobe attachment (rater scored) | 6 | |
DISEASE1235 | Daytime nap | 4 | |
DISEASE1237 | C-reactive protein levels or LDL-cholesterol levels (pleiotropy) | 18 | |
DISEASE1236 | Plasma omega-3 polyunsaturated fatty acid levels (alphalinolenic acid) | 9 | |
DISEASE428 | Cancer (pleiotropy) | 13 | |
DISEASE421 | Ankylosing spondylitis | 22 | |
DISEASE1107 | Graves' disease | 14 | |
DISEASE900 | Subjective well-being | 10 | |
DISEASE1101 | Testicular germ cell cancer | 5 | |
DISEASE1198 | Coffee consumption (cups per day) | 5 | |
DISEASE1199 | Peripheral arterial disease (traffic-related air pollution interaction) | 6 | |
DISEASE1195 | Bipolar disorder | 23 | |
DISEASE1197 | Carotid intima media thickness | 7 | |
DISEASE1191 | Lipoprotein-associated phospholipase A2 activity and mass | 11 | |
DISEASE1192 | Fasting blood glucose (BMI interaction) | 21 | |
DISEASE1193 | Sex hormone levels | 6 | |
DISEASE733 | Coenzyme Q10 levels | 4 | |
DISEASE736 | Depressive symptoms | 17 | |
DISEASE737 | Eosinophil percentage of granulocytes | 159 | |
DISEASE32 | Itch intensity from mosquito bite adjusted by bite size | 30 | |
DISEASE738 | Activated partial thromboplastin time | 7 | |
DISEASE884 | N-glycan levels | 6 | |
DISEASE886 | Myeloid white cell count | 128 | |
DISEASE889 | Ischemic stroke (large artery atherosclerosis) | 4 | |
DISEASE1046 | Migraine without aura | 8 | |
DISEASE1044 | Phosphorus levels | 6 | |
DISEASE1518 | Joint mobility (Beighton score) | 13 | |
DISEASE1519 | Inflammatory skin disease | 42 | |
DISEASE1049 | Obesity | 28 | |
DISEASE1076 | Glomerular filtration rate | 20 | |
DISEASE958 | Homocysteine levels | 15 | |
DISEASE952 | Dementia with Lewy bodies | 4 | |
DISEASE950 | Eotaxin levels | 9 | |
DISEASE957 | Selective IgA deficiency | 7 | |
DISEASE955 | Acute graft versus host disease in bone marrow transplantation (recipient effect) | 5 | |
DISEASE1362 | BMI in smokers | 6 | |
DISEASE1754 | Plasma plasminogen activator levels | 4 | |
DISEASE1755 | Bilirubin levels | 18 | |
DISEASE1613 | Sudden cardiac arrest | 9 | |
DISEASE1738 | Brain connectivity | 7 | |
DISEASE1616 | L-arginine levels | 4 | |
DISEASE557 | Total cholesterol levels in LDL | 5 | |
DISEASE555 | Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) | 6 | |
DISEASE552 | Intracranial aneurysm | 5 | |
DISEASE551 | Mean corpuscular volume | 271 | |
DISEASE558 | Influenza A (H1N1) infection | 13 | |
DISEASE439 | Clopidogrel active metabolite levels | 6 | |
DISEASE1219 | Circulating vasoactive peptide levels | 4 | |
DISEASE1217 | Primary sclerosing cholangitis | 16 | |
DISEASE1216 | Chronic bronchitis and chronic obstructive pulmonary disease | 4 | |
DISEASE1213 | Bone properties (heel) | 8 | |
DISEASE432 | Chronic hepatitis B infection | 12 | |
DISEASE1211 | Thionamide-induced agranulocytosis in Graves' disease | 4 | |
DISEASE968 | Hematological and biochemical traits | 18 | |
DISEASE1323 | Serum parathyroid hormone levels | 6 | |
DISEASE1320 | Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour) | 34 | |
DISEASE725 | Dupuytren's disease | 16 | |
DISEASE728 | 3-hydroxypropylmercapturic acid levels in smokers | 23 | |
DISEASE1329 | Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) | 6 | |
DISEASE73 | Diarrhoea in darapladib-treated cardiovascular disease (time to event) | 4 | |
DISEASE70 | Rheumatoid arthritis | 94 | |
DISEASE74 | Nose size | 9 | |
DISEASE75 | BMI in non-smokers | 23 | |
DISEASE78 | Cotinine glucuronidation | 5 | |
DISEASE79 | Follicular lymphoma | 7 | |
DISEASE899 | Warfarin maintenance dose | 7 | |
DISEASE898 | Antineutrophil cytoplasmic antibody-associated vasculitis | 12 | |
DISEASE890 | Diabetic retinopathy | 4 | |
DISEASE897 | Erythrocyte sedimentation rate | 4 | |
DISEASE896 | Black vs. red hair color | 5 | |
DISEASE1036 | Psoriasis | 64 | |
DISEASE1034 | Serum uric acid levels | 4 | |
DISEASE1031 | Hip circumference adjusted for BMI | 87 | |
DISEASE1529 | Iron status biomarkers (transferrin saturation) | 9 | |
DISEASE1528 | Monocyte percentage of white cells | 168 | |
DISEASE1148 | Aortic root size | 9 | |
DISEASE1140 | Chin dimples | 27 | |
DISEASE1147 | Total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes | 4 | |
DISEASE1146 | Cognitive decline rate in late mild cognitive impairment | 15 | |
DISEASE1547 | Creatinine levels | 7 | |
DISEASE1545 | Phospholipid levels in large HDL | 5 | |
DISEASE1544 | C-reactive protein levels | 18 | |
DISEASE1540 | Alcohol consumption (transferrin glycosylation) | 4 | |
DISEASE1510 | Renal function-related traits (eGRFcrea) | 6 | |
DISEASE544 | Bone mineral density (paediatric, upper limb) | 5 | |
DISEASE547 | Lipoprotein(a) levels adjusted for apolipoprotein(a) isoforms | 7 | |
DISEASE542 | Sporadic neuroblastoma | 6 | |
DISEASE549 | Epilepsy | 5 | |
DISEASE401 | Barrett's esophagus | 5 | |
DISEASE403 | Urate levels | 33 | |
DISEASE1208 | Iron status biomarkers (ferritin levels) | 5 | |
DISEASE1204 | Smoking behavior | 10 | |
DISEASE1205 | Glaucoma | 9 | |
DISEASE1207 | Lung cancer | 59 | |
DISEASE1200 | Chronic obstructive pulmonary disease | 25 | |
DISEASE1202 | White blood cell count (basophil) | 57 | |
DISEASE1267 | vWF levels | 4 | |
DISEASE1332 | Cleft lip with or without cleft palate | 12 | |
DISEASE1336 | Glycated hemoglobin levels | 49 | |
DISEASE1338 | Systolic blood pressure (long-term average) | 4 | |
DISEASE1339 | Obesity-related traits | 14 | |
DISEASE1449 | Atopic dermatitis | 36 | |
DISEASE47 | Plantar warts | 15 | |
DISEASE40 | White blood cell count | 159 | |
DISEASE49 | Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid) | 10 | |
DISEASE48 | Pediatric autoimmune diseases | 24 | |
DISEASE435 | Chronic kidney disease | 26 | |
DISEASE437 | Monocyte count | 169 | |
DISEASE963 | Iron status biomarkers (total iron binding capacity) | 10 | |
DISEASE1538 | Progressive supranuclear palsy | 6 | |
DISEASE431 | Intelligence (multi-trait analysis) | 255 | |
DISEASE1534 | Serous borderline ovarian cancer | 4 | |
DISEASE430 | Cerebrospinal P-tau181p levels | 4 | |
DISEASE1024 | Cutaneous psoriasis | 5 | |
DISEASE1025 | Vogt-Koyanagi-Harada syndrome | 4 | |
DISEASE1027 | Hemoglobin | 10 | |
DISEASE1021 | Liver enzyme levels | 9 | |
DISEASE1023 | Childhood body mass index | 16 | |
DISEASE1168 | IgG N-glycosylation phenotypes (multivariate analysis) | 7 | |
DISEASE1166 | Menarche (age at onset) | 98 | |
DISEASE1158 | Chronic obstructive pulmonary disease (severe) | 5 | |
DISEASE970 | Melanoma | 20 | |
DISEASE971 | Morning vs. evening chronotype | 29 | |
DISEASE972 | Cervical cancer | 7 | |
DISEASE1709 | Red blood cell count | 182 | |
DISEASE391 | Ear morphology | 4 | |
DISEASE392 | Educational attainment (years of education) | 106 | |
DISEASE393 | 1,5-anhydroglucitol levels | 5 | |
DISEASE395 | Waist circumference adjusted for BMI (adjusted for smoking behaviour) | 51 | |
DISEASE396 | Lung disease severity in cystic fibrosis | 4 | |
DISEASE397 | Renal function-related traits (BUN) | 7 | |
DISEASE399 | Interleukin-18 levels | 10 | |
DISEASE152 | Wilms tumor | 4 | |
DISEASE150 | White blood cell types | 11 | |
DISEASE156 | Subjective well-being (multi-trait analysis) | 28 | |
DISEASE154 | Total body bone mineral density | 102 | |
DISEASE159 | Alzheimer disease and age of onset | 17 | |
DISEASE571 | Prostate cancer | 82 | |
DISEASE572 | Elevated serum carcinoembryonic antigen levels | 10 | |
DISEASE573 | Lipid metabolism phenotypes | 25 | |
DISEASE574 | Sarcoidosis | 5 | |
DISEASE379 | PR segment | 7 | |
DISEASE721 | Metabolic syndrome | 21 | |
DISEASE1321 | Lung function (forced vital capacity) | 5 | |
DISEASE417 | Local histogram emphysema pattern | 8 | |
DISEASE416 | Breast cancer (estrogen-receptor negative) | 25 | |
DISEASE415 | Age-related macular degeneration | 22 | |
DISEASE413 | Vertical cup-disc ratio | 24 | |
DISEASE412 | Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) | 6 | |
DISEASE1239 | Hepatitis B | 8 | |
DISEASE1238 | Response to statins (LDL cholesterol change) | 5 | |
DISEASE1459 | Skin aging (microtopography measurement) | 4 | |
DISEASE702 | Pre bronchodilator FEV1 | 4 | |
DISEASE706 | Waist-to-hip ratio adjusted for body mass index | 68 | |
DISEASE1305 | Cognitive function | 5 | |
DISEASE1304 | TRAIL levels | 11 | |
DISEASE1306 | Breast cancer (early onset) | 6 | |
DISEASE1301 | Serum total protein level | 4 | |
DISEASE1300 | Sum neutrophil eosinophil counts | 124 | |
DISEASE1302 | Coronary artery disease or large artery stroke | 16 | |
DISEASE1287 | Waist circumference adjusted for body mass index | 102 | |
DISEASE1495 | Neuroticism | 97 | |
DISEASE1494 | Iron status biomarkers (iron levels) | 7 | |
DISEASE1496 | Monobrow | 36 | |
DISEASE1491 | Hematological parameters | 11 | |
DISEASE1493 | Iron status biomarkers (transferrin levels) | 9 | |
DISEASE1018 | Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular) | 22 | |
DISEASE1548 | Bilirubin levels in extreme obesity | 9 | |
DISEASE1011 | Free cholesterol levels in large LDL | 4 | |
DISEASE1010 | Pulmonary function | 23 | |
DISEASE1015 | Hemoglobin levels | 14 | |
DISEASE1016 | Presence of antiphospholipid antibodies | 4 | |
DISEASE409 | Esophageal cancer (squamous cell) | 8 | |
DISEASE1781 | Caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) | 4 | |
DISEASE1780 | Glomerular filtration rate in non diabetics (creatinine) | 34 | |
DISEASE1783 | End-stage coagulation | 11 | |
DISEASE1782 | Perceived unattractiveness to mosquitoes | 6 | |
DISEASE1509 | LDL cholesterol levels | 59 | |
DISEASE59 | Total body bone mineral density (age over 60) | 14 | |
DISEASE961 | Myocardial infarction | 25 | |
DISEASE966 | Itch intensity from mosquito bite | 46 | |
DISEASE964 | Triglycerides | 82 | |
DISEASE50 | Ischemic stroke | 4 | |
DISEASE55 | Cognitive ability | 21 | |
DISEASE56 | Initial pursuit acceleration in psychotic disorders | 6 | |
DISEASE57 | Triglyceride levels | 50 | |
DISEASE1438 | Helix rolling | 4 | |
DISEASE1437 | Myopia | 45 | |
DISEASE383 | Heart rate variability traits (pvRSA/HF) | 4 | |
DISEASE382 | Bone mineral density | 56 | |
DISEASE388 | Reticulocyte count | 156 | |
DISEASE140 | Leprosy | 19 | |
DISEASE142 | Lung adenocarcinoma | 23 | |
DISEASE144 | Gestational age at birth (maternal effect) | 5 | |
DISEASE690 | Hemoglobin concentration | 110 | |
DISEASE1455 | Age-related diseases, mortality and associated endophenotypes | 31 | |
DISEASE1527 | Kawasaki disease | 11 | |
DISEASE1520 | Hodgkin's lymphoma | 10 | |
DISEASE1523 | Breast cancer | 204 | |
DISEASE1439 | Asthma (childhood onset) | 10 | |
DISEASE567 | Refractive error | 21 | |
DISEASE565 | Emphysema imaging phenotypes | 4 | |
DISEASE564 | Mosquito bite size | 34 | |
DISEASE563 | Fibrinogen levels | 43 | |
DISEASE367 | Corneal structure | 19 | |
DISEASE366 | Vitiligo | 58 | |
DISEASE696 | Autism spectrum disorder or schizophrenia | 136 | |
DISEASE1227 | IgG digalactosylation phenotypes (multivariate analysis) | 4 | |
DISEASE1224 | Non-glioblastoma glioma | 15 | |
DISEASE1225 | Parental lifespan | 4 | |
DISEASE1223 | Large HDL particle concentration | 4 | |
DISEASE1220 | Cerebrospinal fluid levels of Alzheimer's disease-related proteins | 6 | |
DISEASE1318 | QT interval | 47 | |
DISEASE778 | Cardiovascular disease risk factors | 18 | |
DISEASE779 | Red cell distribution width | 178 | |
DISEASE1313 | 3-hydroxy-1-methylpropylmercapturic acid levels in smokers | 20 | |
DISEASE1317 | Pneumonia | 12 | |
DISEASE770 | Light vs. dark hair color | 4 | |
DISEASE1487 | Hair shape | 9 | |
DISEASE1485 | Body mass index (joint analysis main effects and physical activity interaction) | 49 | |
DISEASE603 | Inflammatory biomarkers | 10 | |
DISEASE600 | Nonsyndromic cleft lip with cleft palate | 23 | |
DISEASE601 | Bone ultrasound measurement (velocity of sound) | 6 | |
DISEASE1008 | Myocardial infarction (early onset) | 9 | |
DISEASE1004 | Lipoprotein (a) - cholesterol levels | 8 | |
DISEASE1002 | Infant length | 9 | |
DISEASE1000 | Height | 296 | |
DISEASE916 | Sex hormone-binding globulin levels | 9 | |
DISEASE1176 | Hypertriglyceridemia | 8 | |
DISEASE1175 | Mean platelet volume | 240 | |
DISEASE1378 | Blood protein levels | 334 | |
DISEASE1178 | Tuberculosis | 20 | |
DISEASE26 | Tanning | 8 | |
DISEASE755 | Oral cavity cancer | 4 | |
DISEASE1622 | Bone mineral density (paediatric, lower limb) | 5 | |
DISEASE828 | Spherical equivalent (joint analysis main effects and education interaction) | 20 | |
DISEASE820 | Thyroid cancer | 5 | |
DISEASE826 | Alcoholic chronic pancreatitis | 17 | |
DISEASE1624 | GIP levels in response to oral glucose tolerance test (120 minutes) | 4 | |
DISEASE1243 | Kidney stones | 4 | |
DISEASE943 | Vascular endothelial growth factor levels | 9 | |
DISEASE944 | Bone ultrasound measurement (broadband ultrasound attenuation) | 7 | |
DISEASE1145 | Bone mineral density (paediatric, skull) | 4 | |
DISEASE946 | Acylcarnitine levels | 8 | |
DISEASE175 | Primary biliary cholangitis | 47 | |
DISEASE176 | Beta-2 microglubulin plasma levels | 6 | |
DISEASE173 | Gamma glutamyl transpeptidase | 6 | |
DISEASE179 | Blood metabolite levels | 147 | |
DISEASE281 | QRS complex (Cornell) | 5 | |
DISEASE6 | Iron status biomarkers | 8 | |
DISEASE2 | HDL cholesterol | 104 | |
DISEASE8 | Waist circumference adjusted for BMI in non-smokers | 37 | |
DISEASE9 | Multiple myeloma | 18 | |
DISEASE592 | Monocyte chemoattractant protein-1 levels | 14 | |
DISEASE590 | Body mass index | 225 | |
DISEASE596 | Beard thickness | 4 | |
DISEASE595 | Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1) | 5 | |
DISEASE599 | Ovarian cancer | 8 | |
DISEASE355 | Breast Cancer in BRCA1 mutation carriers | 7 | |
DISEASE357 | Myasthenia gravis | 5 | |
DISEASE351 | Progranulin levels | 4 | |
DISEASE352 | Clinical laboratory measurements | 5 | |
DISEASE766 | Preterm birth (maternal effect) | 4 | |
DISEASE1183 | Growth-regulated protein alpha levels | 6 | |
DISEASE1327 | Febrile seizures | 6 | |
DISEASE1180 | Platelet-derived growth factor BB levels | 5 | |
DISEASE1576 | Cognitive ability (multi-trait analysis) | 60 | |
DISEASE1577 | Peak insulin response | 4 | |
DISEASE1573 | Major depressive disorder | 9 | |
DISEASE611 | Protein quantitative trait loci | 5 | |
DISEASE610 | Hepatitis B vaccine response | 5 | |
DISEASE617 | Metabolic syndrome (bivariate traits) | 6 | |
DISEASE619 | Mammographic density (dense area) | 8 | |
DISEASE1763 | Pulmonary function (smoking interaction) | 16 | |
DISEASE1761 | PR interval in Tripanosoma cruzi seropositivity | 6 | |
DISEASE1766 | Childhood ear infection | 13 | |
DISEASE1588 | Lifespan | 9 | |
DISEASE1582 | Age-related diseases and mortality | 8 | |
DISEASE1580 | Phospholipid levels (plasma) | 22 | |
DISEASE1104 | Lipoprotein (a) levels | 12 | |
DISEASE34 | Metabolite levels (small molecules and protein measures) | 32 | |
DISEASE35 | Angiotensin-converting enzyme inhibitor intolerance | 5 | |
DISEASE909 | Resting heart rate | 71 | |
DISEASE1109 | Testicular germ cell tumor | 48 | |
DISEASE839 | LDL cholesterol | 98 | |
DISEASE831 | Systolic blood pressure | 78 | |
DISEASE833 | Fibrinogen | 27 | |
DISEASE834 | Sphingolipid levels | 10 | |
DISEASE1162 | Bipolar disorder lithium response (continuous) or schizophrenia | 7 | |
DISEASE1563 | Inflammatory bowel disease | 186 | |
DISEASE169 | Neuroticism (multi-trait analysis) | 23 | |
DISEASE163 | Blood pressure traits (multi-trait analysis) | 5 | |
DISEASE162 | Hepatocellular carcinoma | 4 | |
DISEASE167 | Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) | 52 | |
DISEASE294 | Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio) | 9 | |
DISEASE293 | Scalp hair shape | 4 | |
DISEASE580 | Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) | 17 | |
DISEASE582 | Reticulocyte fraction of red cells | 159 | |
DISEASE585 | Colorectal cancer | 41 | |
DISEASE1696 | Autoimmune thyroid diseases (Graves disease or Hashimoto's thyroiditis) | 4 | |
DISEASE346 | Age-related disease endophenotypes | 28 | |
DISEASE344 | Red blood cell fatty acid levels | 10 | |
DISEASE348 | IgG fucosylation phenotypes (multivariate analysis) | 5 | |
DISEASE1507 | Eosinophil counts | 168 | |
DISEASE750 | Renal underexcretion gout | 6 | |
DISEASE751 | Uric acid levels | 11 | |
DISEASE754 | Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy) | 5 | |
DISEASE1379 | Headache | 26 | |
DISEASE1375 | Lobe attachment (rater-scored or self-reported) | 43 | |
DISEASE1373 | Restless legs syndrome | 6 | |
DISEASE624 | Bone mineral density (paediatric, total body less head) | 10 | |
DISEASE626 | Educational attainment | 16 | |
DISEASE620 | Malaria | 5 | |
DISEASE623 | Primary tooth development (number of teeth) | 12 | |
DISEASE1770 | Urinary metabolites (H-NMR features) | 12 | |
DISEASE1771 | Interstitial lung disease | 8 | |
DISEASE1773 | Serum albumin level | 5 | |
DISEASE1778 | Prevalent atrial fibrillation | 9 | |
DISEASE1779 | EGFR mutation-positive lung adenocarcinoma | 5 | |
DISEASE1590 | Inflammatory bowel disease (early onset) | 5 | |
DISEASE1591 | Platelet count | 252 | |
DISEASE1595 | Eye color | 4 | |
DISEASE1596 | Mild influenza (H1N1) infection | 29 | |
DISEASE1597 | Autism | 4 | |
DISEASE931 | Lung function (FEV1) | 16 | |
DISEASE932 | Waist circumference | 35 | |
DISEASE933 | Heart rate variability traits (RMSSD) | 7 | |
DISEASE934 | Nonalcoholic fatty liver disease | 4 | |
DISEASE935 | Body mass index in physically active individuals | 32 | |
DISEASE1110 | Cancer | 4 | |
DISEASE1113 | Mumps | 5 | |
DISEASE1119 | Circulating cell-free DNA | 9 | |
DISEASE808 | Alzheimer's disease biomarkers | 5 | |
DISEASE800 | Glioma | 8 | |
DISEASE802 | Myositis | 4 | |
DISEASE1093 | Venous thromboembolism (SNP x SNP interaction) | 14 | |
DISEASE1094 | Amyloid A serum levels | 4 | |
DISEASE118 | Immune reponse to smallpox (secreted IL-1beta) | 4 | |
DISEASE117 | Cerebrospinal fluid biomarker levels | 55 | |
DISEASE114 | Multiple sclerosis (OCB status) | 4 | |
DISEASE115 | Parkinson's disease | 55 | |
DISEASE112 | Subcortical brain region volumes | 7 | |
DISEASE113 | Hair color | 10 | |
DISEASE111 | Age at first birth | 9 | |
DISEASE776 | IgG sialylation phenotypes (multivariate analysis) | 5 | |
DISEASE1700 | Liver enzyme levels (alkaline phosphatase) | 12 | |
DISEASE473 | Type 1 diabetes | 64 | |
DISEASE472 | Alcohol consumption (drinkers vs non-drinkers) | 4 | |
DISEASE1601 | Urea levels | 4 | |
DISEASE1257 | Hypospadias | 16 | |
DISEASE1602 | Low high density lipoprotein cholesterol levels | 6 | |
DISEASE476 | Non-cardia gastric cancer | 5 | |
DISEASE1606 | Palmitoleic acid (16:1n-7) levels | 5 | |
DISEASE1708 | Renal overload gout | 4 | |
DISEASE22 | Liver enzyme levels (gamma-glutamyl transferase) | 22 | |
DISEASE337 | Risky sexual behaviors (alcohol dependence interaction) | 7 | |
DISEASE249 | Sum basophil neutrophil counts | 136 | |
DISEASE243 | Age-related macular degeneration (choroidal neovascularisation) | 6 | |
DISEASE240 | Coronary artery disease or ischemic stroke | 12 | |
DISEASE246 | Body mass index (SNP x SNP interaction) | 7 | |
DISEASE247 | Metabolite levels | 75 | |
DISEASE245 | C-reactive protein | 11 | |
DISEASE747 | Glycemic traits (pregnancy) | 6 | |
DISEASE1340 | Total body bone mineral density (age 30-45) | 7 | |
DISEASE745 | Low vWF levels | 5 | |
DISEASE744 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 27 | |
DISEASE1345 | Platelet distribution width | 165 | |
DISEASE1344 | Glomerular filtration rate (creatinine) | 65 | |
DISEASE741 | Disease progression in age-related macular degeneration | 5 | |
DISEASE1346 | Gout | 12 | |
DISEASE1348 | Allergy | 21 | |
DISEASE749 | Nonsyndromic cleft lip with or without cleft palate | 5 | |
DISEASE639 | Menopause (age at onset) | 43 | |
DISEASE633 | Stem cell growth factor beta levels | 9 | |
DISEASE631 | Plasma omega-3 polyunsaturated fatty acid levels (docosapentaenoic acid) | 11 | |
DISEASE630 | Interleukin-16 levels | 4 | |
DISEASE1297 | Dehydroepiandrosterone sulphate levels | 8 | |
DISEASE1294 | Barrett's esophagus or Esophageal adenocarcinoma | 12 | |
DISEASE1123 | Modified Stumvoll Insulin Sensitivity Index (BMI interaction) | 4 | |
DISEASE1125 | Nicotine dependence | 5 | |
DISEASE1124 | Sum eosinophil basophil counts | 162 | |
DISEASE1127 | Hirschsprung disease | 5 | |
DISEASE920 | Squamous cell lung carcinoma | 33 | |
DISEASE17 | Intraocular pressure | 38 | |
DISEASE11 | Triglycerides-Blood Pressure (TG-BP) | 6 | |
DISEASE12 | High light scatter reticulocyte count | 158 | |
DISEASE19 | Lymphocyte percentage of white cells | 115 | |
DISEASE604 | Behcet's disease | 9 | |
DISEASE816 | Corrected insulin response | 7 | |
DISEASE819 | Bronchodilator response in asthma (inhaled corticosteroid treatment interaction) | 4 | |
DISEASE609 | Red blood cell traits | 45 | |
DISEASE1550 | Lung function (FVC) | 9 | |
DISEASE1553 | Serum metabolite levels | 21 | |
DISEASE105 | Intrinsic epigenetic age acceleration | 6 | |
DISEASE106 | Psoriatic arthritis | 4 | |
DISEASE100 | Corneal curvature | 4 | |
DISEASE269 | Metabolite levels (lipid measures) | 6 | |
DISEASE1647 | Glaucoma (primary open-angle) | 9 | |
DISEASE325 | Folate pathway vitamin levels | 7 | |
DISEASE326 | Mean corpuscular hemoglobin | 230 | |
DISEASE320 | Amino acid levels | 7 | |
DISEASE323 | Educational attainment (college completion) | 27 | |
DISEASE322 | Schizophrenia | 177 | |
DISEASE328 | middle facial morphology traits (quantitative measurement) | 4 | |
DISEASE251 | Skin colour saturation | 6 | |
DISEASE250 | TB-LM or TBLH-BMD (pleiotropy) | 11 | |
DISEASE252 | Post bronchodilator FEV1 | 15 | |
DISEASE257 | Epithelial ovarian cancer | 19 | |
DISEASE1356 | Fasting plasma glucose | 20 | |
DISEASE1355 | Alzheimer's disease (late onset) | 29 | |
DISEASE1352 | Prostate cancer aggressiveness | 4 | |
DISEASE1350 | Primary tooth development (time to first tooth eruption) | 10 | |
DISEASE1358 | Ease of getting up in the morning | 6 | |
DISEASE1670 | Stearic acid (18:0) levels | 5 | |
DISEASE1672 | Tonsillectomy | 56 | |
DISEASE1677 | Serum prostate-specific antigen levels | 5 | |
DISEASE646 | Granulocyte percentage of myeloid white cells | 157 | |
DISEASE645 | Blood pressure | 30 | |
DISEASE643 | Hematocrit | 108 | |
DISEASE1172 | PR interval | 10 | |
DISEASE1758 | Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) | 49 | |
DISEASE1759 | Tumor biomarkers | 8 | |
DISEASE1173 | Basal cell carcinoma | 27 | |
DISEASE482 | Tooth agenesis | 4 | |
DISEASE914 | Glioblastoma | 9 | |
DISEASE29 | Idiopathic pulmonary fibrosis | 6 | |
DISEASE1289 | Type 1 diabetes and autoimmune thyroid diseases | 7 | |
DISEASE913 | QRS duration | 29 | |
DISEASE910 | Chronic obstructive pulmonary disease-related biomarkers | 9 | |
DISEASE691 | Hip circumference | 52 | |
DISEASE24 | Electrocardiographic conduction measures | 4 | |
DISEASE27 | Waist-to-hip ratio adjusted for BMI in active individuals | 22 | |
DISEASE1070 | IgE levels | 6 | |
DISEASE1139 | Fractional exhaled nitric oxide (childhood) | 6 | |
DISEASE1131 | Metabolic traits | 46 | |
DISEASE799 | Skin pigmentation | 5 | |
DISEASE791 | Asthma and hay fever | 10 | |
DISEASE1657 | Motion sickness | 17 | |
DISEASE861 | White blood cell count (monocyte) | 4 | |
DISEASE1655 | Total body bone mineral density (age 45-60) | 13 | |
DISEASE131 | Nephropathy | 4 | |
DISEASE132 | Incident atrial fibrillation | 4 | |
DISEASE133 | Migraine | 38 | |
DISEASE135 | Thrombosis | 6 | |
DISEASE138 | Neutrophil percentage of white cells | 112 | |
DISEASE722 | Blood metabolite ratios | 50 | |
DISEASE1653 | Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) | 5 | |
DISEASE319 | Psoriasis vulgaris | 20 | |
DISEASE714 | Chronotype | 21 | |
DISEASE715 | C-reactive protein levels or HDL-cholesterol levels (pleiotropy) | 17 | |
DISEASE710 | Thiopurine S-methyltransferase activity | 4 | |
DISEASE1335 | Hand grip strength | 16 | |
DISEASE265 | Basophil percentage of white cells | 49 | |
DISEASE260 | Adolescent idiopathic scoliosis | 6 | |
DISEASE261 | Protein C levels | 6 | |
DISEASE1726 | Weight | 8 | |
DISEASE1722 | Serum protein levels (sST2) | 5 | |
DISEASE654 | Cholesterol, total | 119 | |
DISEASE653 | Urate levels in overweight individuals | 9 | |
DISEASE497 | Immune response to smallpox vaccine (IL-6) | 8 | |
DISEASE494 | Electrocardiographic traits | 10 | |
DISEASE493 | High-grade serous ovarian cancer | 10 |