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3HMG
see
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
HAD deficiency
see
3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Haddad syndrome
see
congenital central hypoventilation syndrome
HADH deficiency
see
3-hydroxyacyl-coenzyme A dehydrogenase deficiency
HADHSC deficiency
see
3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Haemochromatosis
see
hemochromatosis
Hair Diseases and Hair Loss
Hall-Hittner syndrome
see
CHARGE syndrome
Hall-Pallister syndrome
see
Pallister-Hall syndrome
Hallervorden-Spatz Syndrome
see
infantile neuroaxonal dystrophy
;
pantothenate kinase-associated neurodegeneration
Hallgren syndrome
see
Usher syndrome
hand-foot-genital syndrome
Hand-foot-uterus syndrome
see
hand-foot-genital syndrome
Hand Injuries and Disorders
harlequin ichthyosis
Haw River syndrome
see
dentatorubral-pallidoluysian atrophy
HbS disease
see
sickle cell disease
HC
see
hemochromatosis
HCH
see
hypochondroplasia
HDL Lipoprotein Deficiency Disease
see
Tangier disease
Head and Brain Malformations
Hearing Disorders and Deafness
Hearing Problems in Children
Heart Diseases
Heart-hand syndrome, type 1
see
Holt-Oram syndrome
HED
see
hypohidrotic ectodermal dysplasia
Hemangioma, Cavernous, Central Nervous System
see
cerebral cavernous malformation
Hematoporphyria
see
porphyria
hematuria-nephropathy-deafness syndrome
see
Alport syndrome
hematuric hereditary nephritis
see
Alport syndrome
Hemiplegic Migraine, Familial
see
familial hemiplegic migraine
Hemiplegic-ophthalmoplegic migraine
see
familial hemiplegic migraine
Hemochromatoses
see
hemochromatosis
hemochromatosis
hemoglobin M disease
see
methemoglobinemia, beta-globin type
Hemoglobin S Disease
see
sickle cell disease
Hemoglobinuria, Paroxysmal
see
paroxysmal nocturnal hemoglobinuria
hemophilia
see
factor V Leiden thrombophilia
;
hemophilia
;
prothrombin deficiency
;
thrombotic thrombocytopenic purpura
;
von Willebrand disease
;
Wiskott-Aldrich syndrome
hemorrhagic familial nephritis
see
Alport syndrome
hemorrhagic hereditary nephritis
see
Alport syndrome
hepatic AGT deficiency
see
primary hyperoxaluria
hepatic ductular hypoplasia
see
Alagille syndrome
Hepatic methionine adenosyltransferase deficiency
see
hypermethioninemia
hepatic veno-occlusive disease with immunodeficiency
hepatofacioneurocardiovertebral syndrome
see
Alagille syndrome
Hepatolenticular degeneration syndrome
see
Wilson disease
hereditary arthro-ophthalmo-dystrophy
see
Stickler syndrome
Hereditary arthro-ophthalmopathy
see
Stickler syndrome
Hereditary Autosomal Dominant Spastic Paraplegia
see
spastic paraplegia type 3A
;
spastic paraplegia type 4
Hereditary Central Nervous System Demyelinating Diseases
hereditary ceruloplasmin deficiency
see
aceruloplasminemia
Hereditary dystopic lipidosis
see
Fabry disease
hereditary essential tremor
see
essential tremor
hereditary familial congenital hemorrhagic nephritis
see
Alport syndrome
hereditary ferritinopathy
see
neuroferritinopathy
hereditary glaucoma
see
early-onset glaucoma
hereditary hematuria syndrome
see
Alport syndrome
hereditary hemorrhagic telangiectasia
Hereditary inclusion body myopathy
see
inclusion body myopathy 2
hereditary interstitial pyelonephritis
see
Alport syndrome
Hereditary iron-loading anemia
see
X-linked sideroblastic anemia
hereditary leiomyomatosis and renal cell cancer
Hereditary lymphedema type I
see
Milroy disease
hereditary motor and sensory neuropathy
see
Charcot-Marie-Tooth disease
hereditary motor and sensory neuropathy with agenesis of the corpus callosum
see
Andermann syndrome
hereditary motor neuronopathy
see
spinal muscular atrophy
hereditary multiple exostoses
Hereditary nephritis
see
Alport syndrome
hereditary neuropathy with liability to pressure palsies
Hereditary nonpolyposis colorectal cancer
see
Lynch syndrome
Hereditary Nonpolyposis Colorectal Neoplasms
see
Lynch syndrome
hereditary oligophrenic cerebello-lental degeneration
see
Marinesco-Sjögren syndrome
Hereditary onycho-osteodysplasia
see
nail-patella syndrome
Hereditary Opalescent Dentin
see
dentinogenesis imperfecta
Hereditary optic neuroretinopathy
see
Leber hereditary optic neuropathy
Hereditary Osteo-Onychodysplasias
see
nail-patella syndrome
Hereditary Periodic Fever Syndromes
see
familial Mediterranean fever
Hereditary Polyposis Coli
see
familial adenomatous polyposis
hereditary pulmonary emphysema
see
alpha-1 antitrypsin deficiency
Hereditary resistance to activated protein C
see
factor V Leiden thrombophilia
Hereditary Spastic Paraplegia
Hereditary spinal ataxia
see
Friedreich ataxia
Hereditary Spinal Sclerosis
see
Friedreich ataxia
Hereditary Tyrosinemias
see
tyrosinemia
Hereditary X-linked Recessive Spastic Paraplegia
see
spastic paraplegia type 2
Heredodegenerative Disorders, Nervous System
Heterotopic Ossification
see
progressive osseous heteroplasia
Heterozygous OSMED
see
Weissenbacher-Zweymüller syndrome
Heterozygous otospondylomegaepiphyseal dysplasia
see
Weissenbacher-Zweymüller syndrome
HexA deficiency
see
Tay-Sachs disease
Hexosaminidase A and B Deficiency Disease
see
Sandhoff disease
Hexosaminidase A deficiency
see
Tay-Sachs disease
Hexosaminidase activator deficiency
see
GM2-gangliosidosis, AB variant
Hexosaminidase alpha-subunit deficiency (variant B)
see
Tay-Sachs disease
HFG syndrome
see
hand-foot-genital syndrome
HFGS
see
hand-foot-genital syndrome
HFU syndrome
see
hand-foot-genital syndrome
2-HGA
see
2-hydroxyglutaric aciduria
HGPS
see
Hutchinson-Gilford progeria syndrome
HH
see
hemochromatosis
HHH syndrome
see
ornithine translocase deficiency
HHT
see
hereditary hemorrhagic telangiectasia
HI
see
harlequin ichthyosis
HIBM
see
inclusion body myopathy 2
HIE syndrome
see
Job syndrome
HIES
see
Job syndrome
HIGM1
see
X-linked hyper IgM syndrome
Hippel-Lindau Disease
see
von Hippel-Lindau syndrome
Hirschsprung Disease-Mental Retardation Syndrome
see
Mowat-Wilson syndrome
HLAH
see
hemochromatosis
HLCS deficiency
see
holocarboxylase synthetase deficiency
HLRCC
see
hereditary leiomyomatosis and renal cell cancer
HMCS
see
McKusick-Kaufman syndrome
HMG
see
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
HMN V
see
distal hereditary motor neuropathy, type V
HMSN
see
Charcot-Marie-Tooth disease
HMSN/ACC
see
Andermann syndrome
HNPCC
see
Lynch syndrome
HNPP
see
hereditary neuropathy with liability to pressure palsies
HOKPP
see
hypokalemic periodic paralysis
holocarboxylase synthetase deficiency
Holt-Oram syndrome
homocystinuria
Homogentisic acid oxidase deficiency
see
alkaptonuria
Homogentisic acidura
see
alkaptonuria
Hornstein-Knickenberg syndrome
see
Birt-Hogg-Dubé syndrome
HOS
see
Holt-Oram syndrome
HP1
see
primary hyperoxaluria
HP2
see
primary hyperoxaluria
HSAN Type III
see
familial dysautonomia
HSAN3
see
familial dysautonomia
HSN-III
see
familial dysautonomia
Hunter Syndrome
see
mucopolysaccharidosis type II
Huntington disease
Huntington disease-like syndrome
Huntington's Disease
see
Huntington disease
;
Huntington disease-like syndrome
Hurler-Scheie Syndrome
see
mucopolysaccharidosis type I
Hurler Syndrome
see
mucopolysaccharidosis type I
Hutchinson-Gilford progeria syndrome
Hydrocephalus
see
L1 syndrome
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
see
McKusick-Kaufman syndrome
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
see
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency
see
long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
3-hydroxyacyl-coenzyme A dehydrogenase deficiency
4-hydroxybutyric aciduria
see
succinic semialdehyde dehydrogenase deficiency
4-hydroxybutyricaciduria
see
succinic semialdehyde dehydrogenase deficiency
2-hydroxyglutaric aciduria
21-hydroxylase deficiency
Hydroxymethylglutaric aciduria
see
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
Hyper-IgE Syndrome
see
Job syndrome
Hyper-IgM syndrome 1
see
X-linked hyper IgM syndrome
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
see
21-hydroxylase deficiency
Hyperargininemia
see
arginase deficiency
Hypercalcemia-Supravalvar Aortic Stenosis
see
Williams syndrome
hypercholesterolemia
Hyperchylomicronemia, Familial
see
familial lipoprotein lipase deficiency
Hyperdibasic aminoaciduria
see
lysinuric protein intolerance
Hyperglycinemia, Nonketotic
see
glycine encephalopathy
hyperglycinemia with ketoacidosis and leukopenia
see
propionic acidemia
Hyperimmunoglobulin E-Recurrent Infection Syndrome
see
Job syndrome
hyperkalemic periodic paralysis
HyperKPP
see
hyperkalemic periodic paralysis
Hyperlipoproteinemia Type I
see
familial lipoprotein lipase deficiency
hypermethioninemia
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
see
ornithine translocase deficiency
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
see
ornithine translocase deficiency
Hyperoxaluria, Primary
see
primary hyperoxaluria
Hyperphenylalaninemia caused by a defect in biopterin metabolism
see
tetrahydrobiopterin deficiency
Hyperphenylalaninemia, Non-Phenylketonuric
see
tetrahydrobiopterin deficiency
HyperPP
see
hyperkalemic periodic paralysis
hyperprolinemia
hyperprothrombinemia
see
prothrombin thrombophilia
Hyperpyrexia, Malignant
see
malignant hyperthermia
hypertelorism-hypospadias sydrome
see
Opitz G/BBB syndrome
hypertelorism with esophageal abnormalities and hypospadias
see
Opitz G/BBB syndrome
Hyperthermia, Malignant
see
malignant hyperthermia
Hypertyrosinemia
see
tyrosinemia
hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells
see
chylomicron retention disease
hypoceruloplasminemia
see
aceruloplasminemia
Hypochondrodysplasia
see
hypochondroplasia
hypochondrogenesis
hypochondroplasia
Hypochromic anemia
see
X-linked sideroblastic anemia
Hypocupremia, Congenital
see
Menkes syndrome
Hypogammaglobulinemia
see
X-linked agammaglobulinemia
hypogonadotropic hypogonadism and anosmia
see
Kallmann syndrome
hypogonadotropic hypogonadism-anosmia syndrome
see
Kallmann syndrome
hypohidrotic ectodermal dysplasia
hypokalemic periodic paralysis
HypoKPP
see
hypokalemic periodic paralysis
Hypolipoproteinemia
Hypomelia hypotrichosis facial hemangioma syndrome
see
Roberts syndrome
hypophosphatasia
HypoPP
see
hypokalemic periodic paralysis
Hypoprothrombinemia
see
prothrombin deficiency
Hypoprothrombinemias
see
prothrombin deficiency
hypothalamic hamartoblastoma syndrome
see
Pallister-Hall syndrome
Hypotonia, obesity, and prominent incisors
see
Cohen syndrome
hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency
see
Lesch-Nyhan syndrome
Published: January 23, 2009