Diagnosis list

Find by Diagnosis:

Diagnosis MIM number ICD10 Orphanet Code Nr. of samples
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY, PTPS 261640 G24 ORPHA13 2
AARSKOG-SCOTT SYNDROME 305400 Q87.1 ORPHA915 26
ACHONDROPLASIA 100800 Q77.4 ORPHA15 27
ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF 254900 ORPHA163696 2
ACUTE NECROTIZING ENCEPHALOPATHY; ANE 608033 ORPHA88619 2
ACYL-CoA DEHYDROGENASE, LONG CHAIN, DEFICIENCY 201475 E71.3 ORPHA99900 55
ADAMS-OLIVER SYNDROME; AOS 100300 Q87.2 ORPHA974 1
ADENOSIN MONOPHOSPHATE DEAMINASE DEFICIENCY 615511 G71.3 ORPHA45 2
ADENOSINE DEAMINASE 102700 D81.3 ORPHA277 4
ADRENAL HYPERPLASIA III 201910 E25.0 ORPHA794 1
ADRENOLEUKODYSTROPHY 300100 E71.3 ORPHA43 7
AGANGLIONOSIS, TOTAL INTESTINAL 202550 4
AICARDI SYNDROME 304050 Q04.0 ORPHA50 14
AICARDI-GOUTIERES SYNDROME 2 (RNASEH2B) 610326 G31.8 ORPHA51 18
AICARDI-GOUTIERES SYNDROME 5 (SAMHD1) 606754 G31.8 ORPHA51 2
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