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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
HAE see hereditary angioedema
Haemochromatosis see hemochromatosis
Hair Loss see androgenetic alopecia
HAL deficiency see histidinemia
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
HANE see hereditary angioedema
harlequin ichthyosis
Haw River syndrome see dentatorubral-pallidoluysian atrophy
HbS disease see sickle cell disease
HC see hemochromatosis
HCC see hypomyelination and congenital cataract
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; hereditary antithrombin deficiency; protein C deficiency; protein S deficiency; 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 angioedema
hereditary antithrombin deficiency
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 myoclonus see myoclonus-dystonia
hereditary essential tremor see essential tremor
hereditary familial congenital hemorrhagic nephritis see Alport syndrome
hereditary ferritinopathy see neuroferritinopathy
hereditary folate malabsorption
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 neuralgic amyotrophy
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 spastic paraplegia 8 see spastic paraplegia type 8
Hereditary spinal ataxia see Friedreich ataxia
Hereditary Spinal Sclerosis see Friedreich ataxia
hereditary thrombophilia due to protein C deficiency see protein C deficiency
hereditary thrombophilia due to protein S deficiency see protein S deficiency
Hereditary Tyrosinemias see tyrosinemia
Hereditary X-linked Recessive Spastic Paraplegia see spastic paraplegia type 2
heredofamilial neuritis with brachial plexus predilection see hereditary neuralgic amyotrophy
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
HGPPS see horizontal gaze palsy with progressive scoliosis
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
HIS deficiency see histidinemia
histidase deficiency see histidinemia
histidine ammonia-lyase deficiency see histidinemia
histidinemia
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
HNA see hereditary neuralgic amyotrophy
HNPCC see Lynch syndrome
HNPP see hereditary neuropathy with liability to pressure palsies
HOGA see gyrate atrophy of the choroid and retina
HOKPP see hypokalemic periodic paralysis
holocarboxylase synthetase deficiency
Holt-Oram syndrome
homocystinuria
Homogentisic acid oxidase deficiency see alkaptonuria
Homogentisic acidura see alkaptonuria
horizontal gaze palsy with progressive scoliosis
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
HSD10 deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
HSN-III see familial dysautonomia
HSP-TCC see spastic paraplegia type 11
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-2-methylbutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
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
hydroxyacyl-CoA dehydrogenase II deficiency see 17β-hydroxysteroid dehydrogenase type 10 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
hyperbilirubinemia II see Dubin-Johnson syndrome
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
hyperhistidinemia see histidinemia
Hyperimmunoglobulin E-Recurrent Infection Syndrome see Job syndrome
hyperkalemic periodic paralysis
HyperKPP see hyperkalemic periodic paralysis
Hyperlipoproteinemia Type I see familial lipoprotein lipase deficiency
hyperlysinemia
hypermethioninemia
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome see ornithine translocase deficiency
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome see ornithine translocase deficiency
hyperornithinemia with gyrate atrophy of choroid and retina see gyrate atrophy of the choroid and retina
hyperostosis corticalis generalisata see SOST-related sclerosing bone dysplasia
hyperotosis corticalis generalisata familiaris see SOST-related sclerosing bone dysplasia
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
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
hypomyelination and congenital cataract
hypophosphatasia
hypoplastic congenital anemia see Diamond-Blackfan anemia
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


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