Disorder
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Mutation
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Chromosome
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اكتناز الحديد see hemochromatosis
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Hallgren syndrome see Usher syndrome
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Hb S disease see sickle cell anemia
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HCH see hypochondroplasia
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HCP see hereditary coproporphyria
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Head and Brain Malformations
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Hearing Disorders and Deafness
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Hearing Problems in Children
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HEF2A see hemochromatosis, type 2
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HEF2B see hemochromatosis, type 2
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Hematoporphyria see porphyria
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Heme synthetase deficiency see erythropoietic protoporphyria
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Hemochromatoses see hemochromatosis
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hemochromatosis
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hemoglobin M disease see methemoglobinemia, beta-globin type
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Hemoglobin S disease see sickle cell anemia
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hemophilia
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HEP see hepatoerythropoietic porphyria
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hepatic AGT deficiency see hyperoxaluria, primary
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hepatoerythropoietic porphyria
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Hepatolenticular degeneration syndrome see Wilson disease
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hereditary arthro-ophthalmopathy see Stickler syndrome
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hereditary coproporphyria
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hereditary dystopic lipidosis see Fabry disease
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hereditary Hemochromatosis (HHC) see hemochromatosis
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hereditary iron-loading anemia see X-linked sideroblastic anemia
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hereditary motor and sensory neuropathy see Charcot-Marie-Tooth disease
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hereditary motor neuronopathy see spinal muscular atrophy
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hereditary motor neuronopathy, type V see distal spinal muscular atrophy, type V
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hereditary neuropathy with liability to pressure palsies
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hereditary nonpolyposis colorectal cancer
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DNA mismatch repair dysfunction usually in MSH2 and MLH1 genes
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usually chromosomes 2 and 3
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hereditary Periodic Fever syndromes see Mediterranean fever, familial
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hereditary Polyposis Coli see familial adenomatous polyposis
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hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency
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hereditary resistance to activated protein C see factor V Leiden thrombophilia
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hereditary sensory and autonomic neuropathy type III see familial dysautonomia
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hereditary Spastic Paraplegia see infantile-onset ascending hereditary spastic paralysis
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hereditary spinal ataxia see Friedreich ataxia
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hereditary Spinal Sclerosis see Friedreich ataxia
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Herrick's anemia see sickle cell anemia
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Heterozygous OSMED see Weissenbacher-Zweymüller syndrome
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Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome
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HexA deficiency see Tay-Sachs disease
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Hexosaminidase A deficiency see Tay-Sachs disease
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Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease
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HFE-associated hemochromatosis see hemochromatosis
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HGPS see Hutchinson-Gilford progeria syndrome
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Hippel-Lindau disease see von Hippel-Lindau disease
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HLAH see hemochromatosis
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HMN V see distal spinal muscular atrophy, type V
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HMSN see Charcot-Marie-Tooth disease
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HNPCC see hereditary nonpolyposis colorectal cancer
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HNPP see hereditary neuropathy with liability to pressure palsies
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homocystinuria
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Homogentisic acid oxidase deficiency see alkaptonuria
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Homogentisic acidura see alkaptonuria
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Homozygous porphyria cutanea tarda see hepatoerythropoietic porphyria
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HP1 see hyperoxaluria, primary
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HP2 see hyperoxaluria, primary
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HPA see hyperphenylalaninemia
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HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
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HSAN Type III see familial dysautonomia
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HSAN3 see familial dysautonomia
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HSN-III see familial dysautonomia
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Human dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type
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داء هنتنغتون
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داء هنتنغتون see داء هنتنغتون
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Hutchinson-Gilford progeria syndrome
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Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency
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Hyperchylomicronemia, familial see lipoprotein lipase deficiency, familial
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hyperglycinemia with ketoacidosis and leukopenia see propionic acidemia
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Hyperlipoproteinemia Type I see lipoprotein lipase deficiency, familial
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hyperoxaluria, primary
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hyperphenylalaninaemia see hyperphenylalaninemia
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hyperphenylalaninemia
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Hypochondrodysplasia see hypochondroplasia
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hypochondrogenesis
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hypochondroplasia
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Hypochromic anemia see X-linked sideroblastic anemia
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Hypocupremia, Congenital see Menkes syndrome
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hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome
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