Diseases List
 
 
DiagnosisOmim NumberSample Count
ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM1001001
ABETALIPOPROTEINEMIA; ABL2001003
ACHONDROGENESIS; TYPE 1 - 200600; TYPE 2 - 200610; OR GREBE TYPE - 2007002006001
ACHONDROGENESIS; TYPE 1 - 200600; TYPE 2 - 200610; OR GREBE TYPE - 2007002006101
ACHONDROGENESIS; TYPE 1 - 200600; TYPE 2 - 200610; OR GREBE TYPE - 2007002007001
ACHONDROPLASIA; ACH1008007
ACHROMATOPSIA 2; ACHM22169001
ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ2011002
ACUTE LYMPHOCYTIC LEUKEMIA1870407
ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF2014601
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF20145018
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF2014704
ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB6003011
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF2014754
ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT 2,8-@DIHYDROXYADENINE UROLITHIASIS, INCLUDED10260011
ADENOCARCINOMA OF THE ENDOMETRIUM 1
ADENOMATOUS POLYPOSIS OF THE COLON; APC17510043
ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY 8
ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD11027706
ADENYLATE KINASE 1; AK11030001
ADRENAL HYPERPLASIA II2018102
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY2019108
ADRENAL HYPOPLASIA WITH ADDITIONAL CONGENITAL MALFORMATIONS3002005
ADRENAL HYPOPLASIA, CONGENITAL; AHC3002007
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM2023708
ADRENOLEUKODYSTROPHY; ALD30010017
ALAGILLE SYNDROME; AGS11845013
ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A2031004
ALBINISM, OCULOCUTANEOUS, TYPE II; OCA22032002
ALBINISM: TYPE UNKNOWN 2
ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO1035805
ALBUMIN; ALB DYSALBUMINEMIC HYPERTHYROXINEMIA, INCLUDED1036001
ALEXANDER DISEASE2034503
ALKAPTONURIA2035001
ALLERGIC ASTHMATIC 1
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS2037002
ALZHEIMER DISEASE, FAMILIAL, TYPE 3607822170
ALZHEIMER DISEASE, FAMILIAL, TYPE 46068897
ALZHEIMER DISEASE; AD104300416
AMAUROSIS CONGENITA OF LEBER; TYPE I OR II - 204000 OR 2041002040004
AMAUROSIS CONGENITA OF LEBER; TYPE I OR II - 204000 OR 2041002041004
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS11054002119
ANDROGEN RECEPTOR; AR31370010
ANENCEPHALY2065002
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC 43
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 21
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 13 6
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 18 13
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 8 5
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 9 11
ANGELMAN SYNDROME; AS10583013
ANGIOSARCOMA OF THE LIVER 1
ANIRIDIA, GENITOURINARY ABNORMALITIES, & VASCULITIS 1
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE1062601
APERT SYNDROME1012002
APOLIPOPROTEIN C-II DEFICIENCY, TYPE I HYPERLIPOPROTEINEMIA DUE TO2077501
APPARENTLY HEALTHY INDIVIDUAL WITH NORMAL VISUAL SCREENING 32
ARGININEMIA2078009
ARGININOSUCCINIC ACIDURIA20790025
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY2080006
ARTERIOVENOUS FISTULAS10801012
ASPARTYLGLUCOSAMINURIA2084007
ASPHYXIATING THORACIC DYSTROPHY; ATD2085002
ATAXIA-TELANGIECTASIA; AT208900204
ATP SYNTHASE 6; MTATP65160601
ATRANSFERRINEMIA2093005
ATRIOVENTRICULAR SEPTAL DEFECT; AVSD6003095
AUTISTIC DISORDER209850183
AVM-RUPTURED108010149
AVM-UNRUPTURED108010165
AZOOSPERMIA FACTOR C41500012