Diseases List
 
 
DiagnosisOmim NumberSample Count
HARTNUP DISORDER2345002
HEMI DYSTONIA 10
HEMOCHROMATOSIS, NEONATAL23110010
HEMOCHROMATOSIS; HFE23520033
HEMOGLOBIN F, HEREDITARY PERSISTENCE OF14174910
HEMOGLOBIN, GAMMA A; HBG11422001
HEMOGLOBIN--ALPHA LOCUS 1; HBA11418007
HEMOGLOBIN--ALPHA LOCUS 2; HBA21418503
HEMOGLOBIN--BETA LOCUS; HBB14190044
HEMOGLOBIN--DELTA LOCUS; HBD1420003
HEMOPHILIA B; HEMB3069003
HEREDITARY HEMORRHAGIC TELANGIECTASIA1873001259
HERMANSKY-PUDLAK SYNDROME 2; HPS26082331
HERMANSKY-PUDLAK SYNDROME; HPS2033005
HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 14288014280041
HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 14288014286041
HLA HISTOCOMPATIBILITY TYPE: 142800 THROUGH 142860 & 14288014288041
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY2532706
HOLOPROSENCEPHALY 12
HOLT-ORAM SYNDROME; HOS1429002
HOMOCYSTINURIA23620042
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY2362501
HUNTINGTON DISEASE; HD 143100153
HUNTINGTON DISEASE; HD143100214
HURLER SYNDROME60701417
HURLER-SCHEIE SYNDROME60701512
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS17667050
HYDATIDIFORM MOLE2310901
HYPER IGM, TYPE UNKNOWN 1
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH6038135
HYPERCHOLESTEROLEMIA, FAMILIAL; FHC14389027
HYPERGLYCEROLEMIA30703012
HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I23830010
HYPERGLYCINEMIA, ISOLATED NONKETOTIC, TYPE I23831010
HYPERLIPIDEMIA, FAMILIAL COMBINED1442501
HYPERLIPOPROTEINEMIA, TYPE I2386001
HYPERLYSINEMIA2387001
HYPERPIPECOLATEMIA2394001
HYPOCHONDROPLASIA; HCH1460001
HYPOMELANOSIS OF ITO; HMI3003372
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD; SANJAD-SAKATI SYNDROME2414101
HYPOPHOSPHATASIA, INFANTILE2415002
HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 24151024150026
HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 24151024151026
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT3078002
HYPOPLASTIC LEFT HEART SYNDROME2415501