skip to main |
skip to sidebar
H - Health Conditions - Genetics Home Reference - NIH
H - Health Conditions - Genetics Home Reference - NIH
- H-CK, see Isolated hyperCKemia
- Haberland syndrome (formerly), see Encephalocraniocutaneous lipomatosis
- HAD deficiency, see 3-hydroxyacyl-CoA dehydrogenase deficiency
- Haddad syndrome, see Congenital central hypoventilation syndrome
- HADH deficiency, see 3-hydroxyacyl-CoA dehydrogenase deficiency
- HADHSC deficiency, see 3-hydroxyacyl-CoA dehydrogenase deficiency
- HAE, see Hereditary angioedema
- haemochromatosis, see Hereditary hemochromatosis
- haemophilia, see Hemophilia
- haemophilia C, see Factor XI deficiency
- Hailey-Hailey disease, see Benign chronic pemphigus
- Hajdu-Cheney syndrome
- HAL deficiency, see Histidinemia
- Hall-Hittner syndrome, see CHARGE syndrome
- Hall-Pallister syndrome, see Pallister-Hall syndrome
- Hallgren syndrome, see Usher syndrome
- hallux abductovalgus, see Bunion
- hallux duplication, postaxial polydactyly, and absence of corpus callosum, see Acrocallosal syndrome
- hallux valgus, see Bunion
- Hamel cerebropalatocardiac syndrome, see Renpenning syndrome
- HANAC, see Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- HANAC syndrome, see Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- Hand-foot-genital syndrome
- Hand-foot-uterus syndrome, see Hand-foot-genital syndrome
- HANE, see Hereditary angioedema
- Hansen disease, see Leprosy
- Hansen's disease, see Leprosy
- Happle syndrome, see X-linked chondrodysplasia punctata 2
- HARD syndrome, see Walker-Warburg syndrome
- Harlequin baby syndrome, see Harlequin ichthyosis
- Harlequin ichthyosis
- Hartnup disease
- Hartnup disorder, see Hartnup disease
- Hartnup's disease, see Hartnup disease
- Hartsfield syndrome
- Hartsfield-Bixler-Demyer syndrome, see Hartsfield syndrome
- Hashimoto disease, see Hashimoto thyroiditis
- Hashimoto struma, see Hashimoto thyroiditis
- Hashimoto syndrome, see Hashimoto thyroiditis
- Hashimoto thyroiditis
- Hashimoto's disease, see Hashimoto thyroiditis
- Hashimoto-Pritzger disease, see Langerhans cell histiocytosis
- HAV, see Bunion
- Haw River syndrome, see Dentatorubral-pallidoluysian atrophy
- Hay-Wells syndrome, see Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- HBBD, see Progressive familial heart block
- HbS disease, see Sickle cell disease
- HBSL, see Hypomyelination with brainstem and spinal cord involvement and leg spasticity
- HC, see Hereditary hemochromatosis
- HCAHC, see Pol III-related leukodystrophy
- HCC, see Hypomyelination and congenital cataract
- HCH, see Hypochondroplasia
- HCHWA, see Hereditary cerebral amyloid angiopathy
- HCM, see Familial hypertrophic cardiomyopathy
- HDDD1, see GRN-related frontotemporal dementia
- HDDD2, see GRN-related frontotemporal dementia
- HDGC, see Hereditary diffuse gastric cancer
- HDL deficiency, type 2, see Familial HDL deficiency
- HDL Lipoprotein Deficiency Disease, see Tangier disease
- HDLD, see Familial HDL deficiency
- Head and neck squamous cell carcinoma
- headache migraine, see Migraine
- headache migrainous, see Migraine
- hearing loss, age-related, see Age-related hearing loss
- heart-hand syndrome, type 1, see Holt-Oram syndrome
- HED, see Hypohidrotic ectodermal dysplasia
- HED-ID, see Anhidrotic ectodermal dysplasia with immune deficiency
- HED2, see Clouston syndrome
- Helsmoortel-van der Aa syndrome, see ADNP syndrome
- HEM dysplasia, see Greenberg dysplasia
- HEM skeletal dysplasia, see Greenberg dysplasia
- hemangiomata with dyschondroplasia, see Maffucci syndrome
- hemangiomatosis chondrodystrophica, see Maffucci syndrome
- hemangiomatous branchial clefts-lip pseudocleft syndrome, see Branchio-oculo-facial syndrome
- Hematoporphyria, see Porphyria
- hematuria-nephropathy-deafness syndrome, see Alport syndrome
- hematuric hereditary nephritis, see Alport syndrome
- hemifacial microsomia, see Craniofacial microsomia
- hemiplegic migraine, familial, see Familial hemiplegic migraine
- hemiplegic-ophthalmoplegic migraine, see Familial hemiplegic migraine
- hemochromatosis, see Hereditary hemochromatosis
- hemoglobin M disease, see Methemoglobinemia, beta-globin type
- Hemoglobin S Disease, see Sickle cell disease
- Hemoglobinuria, Paroxysmal, see Paroxysmal nocturnal hemoglobinuria
- hemophagocytic syndrome, see Familial hemophagocytic lymphohistiocytosis
- Hemophilia
- hemophilia C, see Factor XI deficiency
- hemophilia, familial, see Hemophilia
- Hemophilia, familial, see Hemophilia
- hemophilia, hereditary, see Hemophilia
- Hemophilia, hereditary, see Hemophilia
- hemorrhagic familial nephritis, see Alport syndrome
- hemorrhagic hereditary nephritis, see Alport syndrome
- hemorrhagioparous thrombocytic dystrophy, see Bernard-Soulier syndrome
- Hennekam lymphangiectasia-lymphedema syndrome, see Hennekam syndrome
- Hennekam syndrome
- hepatic AGT deficiency, see Primary hyperoxaluria
- hepatic ductular hypoplasia, see Alagille syndrome
- hepatic glycogen phosphorylase deficiency, see Glycogen storage disease type VI
- Hepatic lipase deficiency
- Hepatic methionine adenosyltransferase deficiency, see Hypermethioninemia
- Hepatic veno-occlusive disease with immunodeficiency
- hepatic venoocclusive disease with immunodeficiency, see Hepatic veno-occlusive disease with immunodeficiency
- hepatocerebral mitochondrial DNA depletion syndrome, see Deoxyguanosine kinase deficiency
- hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, see Combined oxidative phosphorylation deficiency 1
- hepatofacioneurocardiovertebral syndrome, see Alagille syndrome
- hepatolenticular degeneration syndrome, see Wilson disease
- hepatorenal form of glycogen storage disease, see Glycogen storage disease type I
- hepatorenal glycogenosis, see Glycogen storage disease type I
- hereditary aldosteronism, see Familial hyperaldosteronism
- Hereditary angioedema
- hereditary angioneurotic edema, see Hereditary angioedema
- hereditary angiopathy with nephropathy, aneurysm, and muscle cramps syndrome, see Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- Hereditary antithrombin deficiency
- hereditary arthro-ophthalmo-dystrophy, see Stickler syndrome
- hereditary arthro-ophthalmopathy, see Stickler syndrome
- hereditary brachial plexus neuropathy, see Hereditary neuralgic amyotrophy
- hereditary bundle branch defect, see Progressive familial heart block
- hereditary bundle branch system defect, see Progressive familial heart block
- Hereditary cerebral amyloid angiopathy
- hereditary ceruloplasmin deficiency, see Aceruloplasminemia
- hereditary chronic pancreatitis, see Hereditary pancreatitis
- hereditary cranium bifidum, see Enlarged parietal foramina
- hereditary dementia, multi-infarct type, see Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- hereditary desmoid disease, see Desmoid tumor
- hereditary diffuse gastric adenocarcinoma, see Hereditary diffuse gastric cancer
- Hereditary diffuse gastric cancer
- hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia, see Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- hereditary dysphasic disinhibition dementia, see GRN-related frontotemporal dementia
- hereditary dystopic lipidosis, see Fabry disease
- hereditary epithelial dysplasia of retina, see Leber congenital amaurosis
- hereditary erythrocytosis, see Familial erythrocytosis
- hereditary essential tremor, see Essential tremor
- hereditary factor I deficiency disease, see Complement factor I deficiency
- hereditary familial congenital hemorrhagic nephritis, see Alport syndrome
- hereditary ferritinopathy, see Neuroferritinopathy
- Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
- Hereditary folate malabsorption
- Hereditary fructose intolerance
- hereditary glaucoma, see Early-onset glaucoma
- hereditary gynecomastia, see Aromatase excess syndrome
- hereditary haemochromatosis, see Hereditary hemochromatosis
- hereditary hematuria syndrome, see Alport syndrome
- Hereditary hemochromatosis
- Hereditary hemorrhagic telangiectasia
- hereditary hemorrhagic thrombasthenia, see Glanzmann thrombasthenia
- Hereditary hyperekplexia
- hereditary hyperferritinemia with congenital cataracts, see Hyperferritinemia-cataract syndrome
- hereditary hyperferritinemia-cataract syndrome, see Hyperferritinemia-cataract syndrome
- hereditary hyperparathyroidism-jaw tumor syndrome, see Hyperparathyroidism-jaw tumor syndrome
- Hereditary hypophosphatemic rickets
- Hereditary inclusion body myopathy, see Inclusion body myopathy 2
- hereditary insensitivity to pain with anhidrosis, see Congenital insensitivity to pain with anhidrosis
- hereditary interstitial pyelonephritis, see Alport syndrome
- Hereditary iron-loading anemia, see X-linked sideroblastic anemia
- Hereditary leiomyomatosis and renal cell cancer
- hereditary leiomyomatosis and renal cell carcinoma, see Hereditary leiomyomatosis and renal cell cancer
- hereditary leukokeratosis, see White sponge nevus
- hereditary lymphedema II, see Meige disease
- hereditary lymphedema type I, see Milroy disease
- hereditary motor and sensory neuropathy, see Hereditary neuropathy with liability to pressure palsies
- hereditary motor and sensory neuropathy, see Charcot-Marie-Tooth disease
- hereditary motor and sensory neuropathy Type IV, see Refsum disease
- hereditary motor and sensory neuropathy with agenesis of the corpus callosum, see Andermann syndrome
- hereditary mucosal leukokeratosis, see White sponge nevus
- hereditary multicentric osteolysis, see Multicentric osteolysis, nodulosis, and arthropathy
- hereditary multiple benign cystic epithelioma, see Multiple familial trichoepithelioma
- hereditary multiple exostoses, see Hereditary multiple osteochondromas
- Hereditary multiple osteochondromas
- hereditary myoclonus with progressive distal muscular atrophy, see Spinal muscular atrophy with progressive myoclonic epilepsy
- Hereditary myopathy with early respiratory failure
- hereditary myopathy with lactic acidosis, see Myopathy with deficiency of iron-sulfur cluster assembly enzyme
- 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 nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency, see Triosephosphate isomerase deficiency
- 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 oral keratosis, see White sponge nevus
- hereditary osteo-onychodysplasia, see Nail-patella syndrome
- hereditary osteodysplasia with acro-osteolysis, see Hajdu-Cheney syndrome
- Hereditary pancreatitis
- Hereditary paraganglioma-pheochromocytoma
- hereditary paraganglioma-pheochromocytoma syndromes, see Hereditary paraganglioma-pheochromocytoma
- hereditary pheochromocytoma-paraganglioma, see Hereditary paraganglioma-pheochromocytoma
- hereditary pressure sensitive neuropathy, see Hereditary neuropathy with liability to pressure palsies
- hereditary progressive dystonia with marked diurnal fluctuation, see Dopa-responsive dystonia
- hereditary pulmonary emphysema, see Alpha-1 antitrypsin deficiency
- hereditary renal hypouricemia, see Renal hypouricemia
- Hereditary resistance to activated protein C, see Factor V Leiden thrombophilia
- hereditary retinal aplasia, see Leber congenital amaurosis
- hereditary sclerosing poikiloderma with tendon and pulmonary involvement, see Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
- hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss, see Hereditary sensory and autonomic neuropathy type IE
- hereditary sensory and autonomic neuropathy type 2, see Hereditary sensory and autonomic neuropathy type II
- Hereditary sensory and autonomic neuropathy type IE
- Hereditary sensory and autonomic neuropathy type II
- hereditary sensory and autonomic neuropathy type IV, see Congenital insensitivity to pain with anhidrosis
- Hereditary sensory and autonomic neuropathy type V
- hereditary sensory and autonomic neuropathy, type 4, see Congenital insensitivity to pain with anhidrosis
- hereditary sensory and autonomic neuropathy, type 5, see Hereditary sensory and autonomic neuropathy type V
- hereditary sensory and autonomic neuropathy, type IA, see Hereditary sensory neuropathy type IA
- Hereditary sensory neuropathy type IA
- hereditary sensory neuropathy type IE, see Hereditary sensory and autonomic neuropathy type IE
- Hereditary Spastic Paraplegia, see Troyer syndrome
- Hereditary Spastic Paraplegia, see Spastic paraplegia type 7
- hereditary spastic paraplegia 8, see Spastic paraplegia type 8
- hereditary spastic paraplegia, paraplegin type, see Spastic paraplegia type 7
- Hereditary spherocytosis
- hereditary SWI/SNF deficiency syndrome, see Rhabdoid tumor predisposition syndrome
- hereditary syndrome of lumpy scalp, odd ears, and rudimentary nipples, see Scalp-ear-nipple syndrome
- hereditary thrombasthenia, see Glanzmann thrombasthenia
- hereditary thrombophilia due to protein C deficiency, see Protein C deficiency
- hereditary thrombophilia due to protein S deficiency, see Protein S deficiency
- hereditary thymine-uraciluria, see Dihydropyrimidine dehydrogenase deficiency
- hereditary tyrosinemia, see Tyrosinemia
- hereditary unconjugated hyperbilirubinemia, see Crigler-Najjar syndrome
- hereditary unresponsiveness to adrenocorticotropic hormone, see Familial glucocorticoid deficiency
- hereditary ventricular hypertrophy, see Familial hypertrophic cardiomyopathy
- Hereditary X-linked Recessive Spastic Paraplegia, see Spastic paraplegia type 2
- Hereditary xanthinuria
- heredofamilial neuritis with brachial plexus predilection, see Hereditary neuralgic amyotrophy
- heredopathia atactica polyneuritiformis, see Refsum disease
- heredoretinopathia congenitalis, see Leber congenital amaurosis
- heritable hypertrophic cardiomyopathy, see Familial hypertrophic cardiomyopathy
- Hermansky-Pudlak syndrome
- hernia, abdominal, see Abdominal wall defect
- herpes zoster, see Shingles
- Hers disease, see Glycogen storage disease type VI
- heterotaxy, see Heterotaxy syndrome
- Heterotaxy syndrome
- heterotopia, subcortical band, see Subcortical band heterotopia
- 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
- HFM, see Craniofacial microsomia
- HFP, see Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
- HFTC, see Hyperphosphatemic familial tumoral calcinosis
- HFU syndrome, see Hand-foot-genital syndrome
- HGPPS, see Horizontal gaze palsy with progressive scoliosis
- HGPRT deficiency, see Lesch-Nyhan syndrome
- HGPS, see Hutchinson-Gilford progeria syndrome
- HH, see Hereditary hemochromatosis
- HHCS, see Hyperferritinemia-cataract syndrome
- HHES, see Hartsfield syndrome
- HHH syndrome, see Ornithine translocase deficiency
- HHT, see Hereditary hemorrhagic telangiectasia
- HI, see Harlequin ichthyosis
- HIBM, see Inclusion body myopathy 2
- HID syndrome, see Hystrix-like ichthyosis with deafness
- hidradenitides, suppurative, see Hidradenitis suppurativa
- Hidradenitis suppurativa
- hidradenitis, suppurative, see Hidradenitis suppurativa
- hidrotic ectodermal dysplasia 2, see Clouston syndrome
- high blood pressure, see Hypertension
- high myopia and sensorineural deafness, see Deafness and myopia syndrome
- high myopia-sensorineural deafness syndrome, see Deafness and myopia syndrome
- HIGM1, see X-linked hyper IgM syndrome
- Hippel-Lindau disease, see Von Hippel-Lindau syndrome
- Hirschsprung disease
- Hirschsprung disease-mental retardation syndrome, see Mowat-Wilson syndrome
- Hirschsprung's disease, see Hirschsprung disease
- HIS deficiency, see Histidinemia
- histidase deficiency, see Histidinemia
- histidine ammonia-lyase deficiency, see Histidinemia
- Histidinemia
- histiocytic medullary reticulosis, see Omenn syndrome
- histiocytosis X, see Langerhans cell histiocytosis
- Histiocytosis-lymphadenopathy plus syndrome
- HIVEP2-related intellectual disability
- HJCYS, see Hajdu-Cheney syndrome
- HL deficiency, see Hepatic lipase deficiency
- HLA class I deficiency, see Bare lymphocyte syndrome type I
- HLAH, see Hereditary hemochromatosis
- HLCS deficiency, see Holocarboxylase synthetase deficiency
- HLD1, see Pelizaeus-Merzbacher disease
- HLD2, see Pelizaeus-Merzbacher-like disease type 1
- HLD7, see Pol III-related leukodystrophy
- HLD8, see Pol III-related leukodystrophy
- HLRCC, see Hereditary leiomyomatosis and renal cell cancer
- HMCS, see McKusick-Kaufman syndrome
- HMERF, see Hereditary myopathy with early respiratory failure
- HMG, see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- HMG-CoA lyase deficiency, see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- HML, see Myopathy with deficiency of iron-sulfur cluster assembly enzyme
- HMN V, see Distal hereditary motor neuropathy, type V
- HMN6, see Spinal muscular atrophy with respiratory distress type 1
- HMNDYT, see Hypermanganesemia with dystonia
- HMNVI, see Spinal muscular atrophy with respiratory distress type 1
- HMSN, see Charcot-Marie-Tooth disease
- HMSN IV, see Refsum disease
- HMSN type IV, see Refsum disease
- HMSN/ACC, see Andermann syndrome
- HNA, see Hereditary neuralgic amyotrophy
- HNPCC, see Lynch syndrome
- HNPP, see Hereditary neuropathy with liability to pressure palsies
- HNSCC, see Head and neck squamous cell carcinoma
- HOGA, see Gyrate atrophy of the choroid and retina
- HOKPP, see Hypokalemic periodic paralysis
- Holocarboxylase synthetase deficiency
- holoprosencephaly and split hand/foot syndrome, see Hartsfield syndrome
- holoprosencephaly sequence, see Nonsyndromic holoprosencephaly
- holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate, see Hartsfield syndrome
- holoprosencephaly, hypertelorism, and ectrodactyly syndrome, see Hartsfield syndrome
- Holt-Oram syndrome
- HOMG, see Hypomagnesemia with secondary hypocalcemia
- homocysteinemia, see Homocystinuria
- Homocystinuria
- homogentisic acid oxidase deficiency, see Alkaptonuria
- homogentisic acidura, see Alkaptonuria
- homozygous PAI-1 deficiency, see Complete plasminogen activator inhibitor 1 deficiency
- honeycomb myocardium, see Left ventricular noncompaction
- Horizontal gaze palsy with progressive scoliosis
- Horner syndrome
- Horner's syndrome, see Horner syndrome
- Hornstein-Birt-Hogg-Dubé syndrome, see Birt-Hogg-Dubé syndrome
- Hornstein-Knickenberg syndrome, see Birt-Hogg-Dubé syndrome
- HOS, see Holt-Oram syndrome
- HP, see Hereditary pancreatitis
- HPLH, see Familial hemophagocytic lymphohistiocytosis
- HPS, see Hermansky-Pudlak syndrome
- HPT-JT, see Hyperparathyroidism-jaw tumor syndrome
- HS, see Hereditary spherocytosis
- HSAN IA, see Hereditary sensory neuropathy type IA
- HSAN type II, see Hereditary sensory and autonomic neuropathy type II
- HSAN Type III, see Familial dysautonomia
- HSAN type IV, see Congenital insensitivity to pain with anhidrosis
- HSAN type V, see Hereditary sensory and autonomic neuropathy type V
- HSAN V, see Hereditary sensory and autonomic neuropathy type V
- HSAN1A, see Hereditary sensory neuropathy type IA
- HSAN1E, see Hereditary sensory and autonomic neuropathy type IE
- HSAN2, see Hereditary sensory and autonomic neuropathy type II
- HSAN2A, see Hereditary sensory and autonomic neuropathy type II
- HSAN2B, see Hereditary sensory and autonomic neuropathy type II
- HSAN2C, see Hereditary sensory and autonomic neuropathy type II
- HSAN2D, see Hereditary sensory and autonomic neuropathy type II
- HSAN3, see Familial dysautonomia
- HSAN4, see Congenital insensitivity to pain with anhidrosis
- HSAN5, see Hereditary sensory and autonomic neuropathy type V
- HSANII, see Hereditary sensory and autonomic neuropathy type II
- HSCR, see Hirschsprung disease
- HSD10 deficiency, see HSD10 disease
- HSD10 disease
- HSH, see Hypomagnesemia with secondary hypocalcemia
- HSN IA, see Hereditary sensory neuropathy type IA
- HSN IE, see Hereditary sensory and autonomic neuropathy type IE
- HSN type II, see Hereditary sensory and autonomic neuropathy type II
- HSN-III, see Familial dysautonomia
- HSN1A, see Hereditary sensory neuropathy type IA
- HSNIE, see Hereditary sensory and autonomic neuropathy type IE
- HSP-TCC, see Spastic paraplegia type 11
- HTL, see Autosomal recessive hypotrichosis
- HTX, see Heterotaxy syndrome
- Hughes syndrome, see Antiphospholipid syndrome
- humero-spinal dysostosis, see CHST3-related skeletal dysplasia
- Hunter Syndrome, see Mucopolysaccharidosis type II
- Huntington chorea, see Huntington disease
- Huntington chronic progressive hereditary chorea, see Huntington disease
- Huntington disease
- Huntington disease-like syndrome
- Huntington disease-like syndromes, see Huntington disease-like syndrome
- Huntington's chorea, see Huntington disease
- Huntington's disease, see Huntington disease
- Huntington's disease phenocopies, see Huntington disease-like syndrome
- Huntington's disease phenocopy syndromes, see Huntington disease-like syndrome
- Huntington's disease-like syndromes, see Huntington disease-like syndrome
- Hurler syndrome, see Mucopolysaccharidosis type I
- Hurler-Scheie syndrome, see Mucopolysaccharidosis type I
- Hutchinson-Gilford progeria syndrome
- Hutchinson-Gilford syndrome, see Hutchinson-Gilford progeria syndrome
- Hutterite syndrome, see Bowen-Conradi syndrome
- HV, see Bunion
- HVDAS, see ADNP syndrome
- Hyaline fibromatosis syndrome
- hyalinosis cutis et mucosae, see Lipoid proteinosis
- hyaloideoretinal degeneration of Wagner, see Wagner syndrome
- hydrocephalus, agyria, and retinal dysplasia, see Walker-Warburg syndrome
- hydrocephalus, internal, Dandy-Walker type, see Dandy-Walker malformation
- hydrocephalus, noncommunicating, Dandy-Walker type, see Dandy-Walker malformation
- Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation, see McKusick-Kaufman syndrome
- hydronephrosis with peculiar facial expression, see Ochoa syndrome
- hydronephrosis-inverted smile, see Ochoa syndrome
- hydrops - ectopic calcification - moth-eaten skeletal dysplasia, see Greenberg dysplasia
- hydroxyacyl-CoA dehydrogenase II deficiency, see HSD10 disease
- Hydroxymethylglutaric aciduria, see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- hyper IgD syndrome, see Mevalonate kinase deficiency
- hyper IgE recurrent infection syndrome, autosomal recessive, see DOCK8 immunodeficiency syndrome
- hyper immunoglobulin E syndrome, autosomal recessive, see DOCK8 immunodeficiency syndrome
- hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia, see Anhidrotic ectodermal dysplasia with immune deficiency
- Hyper-IgM syndrome 1, see X-linked hyper IgM syndrome
- hyperaldosteronism, familial, see Familial hyperaldosteronism
- hyperammonemia due to carbonic anhydrase VA deficiency, see Carbonic anhydrase VA deficiency
- hyperammonemia, type III, see N-acetylglutamate synthase deficiency
- hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, see Carbonic anhydrase VA deficiency
- Hyperargininemia, see Arginase deficiency
- hyperbilirubinemia 1, see Gilbert syndrome
- hyperbilirubinemia II, see Dubin-Johnson syndrome
- hyperbilirubinemia, Dubin-Johnson type, see Dubin-Johnson syndrome
- hyperbilirubinemia, Rotor type, see Rotor syndrome
- hypercalcemia-supravalvar aortic stenosis, see Williams syndrome
- Hypercholesterolemia
- hypercortisolism, see Cushing disease
- Hyperdibasic aminoaciduria, see Lysinuric protein intolerance
- hyperekplexia, see Hereditary hyperekplexia
- Hyperferritinemia-cataract syndrome
- hyperfibrinolysis due to PAI1 deficiency, see Complete plasminogen activator inhibitor 1 deficiency
- hyperglycinemia with ketoacidosis and leukopenia, see Propionic acidemia
- Hyperglycinemia, Nonketotic, see Glycine encephalopathy
- hyperhistidinemia, see Histidinemia
- hyperimidodipeptiduria, see Prolidase deficiency
- hyperimmunoglobulin D with periodic fever, see Mevalonate kinase deficiency
- hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive, see DOCK8 immunodeficiency syndrome
- hyperimmunoglobulin E syndrome type 2, see DOCK8 immunodeficiency syndrome
- hyperimmunoglobulinemia D, see Mevalonate kinase deficiency
- hyperinsulinemia hypoglycemia of infancy, see Congenital hyperinsulinism
- Hyperkalemic periodic paralysis
- hyperkeratosis, epidermolytic, see Epidermolytic hyperkeratosis
- hyperkinetic disorder, see Attention-deficit/hyperactivity disorder
- hyperkinetic syndrome, see Attention-deficit/hyperactivity disorder
- hyperKPP, see Hyperkalemic periodic paralysis
- hyperlipidemia due to hepatic triglyceride lipase deficiency, see Hepatic lipase deficiency
- hyperlipoproteinemia type I, see Familial lipoprotein lipase deficiency
- hyperlipoproteinemia type Ia, see Familial lipoprotein lipase deficiency
- Hyperlysinemia
- Hypermanganesemia with dystonia
- Hypermethioninemia
- hypermetropia, see Farsightedness
- hyperopia, see Farsightedness
- hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, see Ornithine translocase deficiency
- hyperornithinemia with gyrate atrophy of choroid and retina, see Gyrate atrophy of the choroid and retina
- hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, see Ornithine translocase deficiency
- hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, see Ornithine translocase deficiency
- hyperostosis corticalis deformans juvenilis, see Juvenile Paget disease
- hyperostosis corticalis generalisata, see SOST-related sclerosing bone dysplasia
- hyperostosis, monomelic, see Melorheostosis
- hyperotosis corticalis generalisata familiaris, see SOST-related sclerosing bone dysplasia
- hyperoxaluria, primary, see Primary hyperoxaluria
- hyperparathyroidism 1, see Familial isolated hyperparathyroidism
- hyperparathyroidism 2, see Hyperparathyroidism-jaw tumor syndrome
- Hyperparathyroidism-jaw tumor syndrome
- hyperphenylalaninemia caused by a defect in biopterin metabolism, see Tetrahydrobiopterin deficiency
- hyperphenylalaninemia, non-phenylketonuric, see Tetrahydrobiopterin deficiency
- hyperphosphatasemia tarda, see SOST-related sclerosing bone dysplasia
- hyperphosphatasemia with bone disease, see Juvenile Paget disease
- hyperphosphatasia with mental retardation syndrome, see Mabry syndrome
- hyperphosphatasia with seizures and neurologic deficit, see Mabry syndrome
- hyperphosphatasia, familial idiopathic, see Juvenile Paget disease
- hyperphosphatemia hyperostosis, see Hyperphosphatemic familial tumoral calcinosis
- hyperphosphatemia hyperostosis syndrome, see Hyperphosphatemic familial tumoral calcinosis
- hyperphosphatemia tumoral calcinosis, see Hyperphosphatemic familial tumoral calcinosis
- Hyperphosphatemic familial tumoral calcinosis
- hyperPP, see Hyperkalemic periodic paralysis
- Hyperprolinemia
- hyperprothrombinemia, see Prothrombin thrombophilia
- Hyperpyrexia, Malignant, see Malignant hyperthermia
- hypertelorism with esophageal abnormalities and hypospadias, see Opitz G/BBB syndrome
- hypertelorism-hypospadias sydrome, see Opitz G/BBB syndrome
- Hypertension
- Hyperthermia, Malignant, see Malignant hyperthermia
- hypertrabeculation syndrome, see Left ventricular noncompaction
- hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome, see Cantú syndrome
- hypertrichotic osteochondrodysplasia, see Cantú syndrome
- hypertrophic arthritis, see Osteoarthritis
- hypertyrosinaemia, see Tyrosinemia
- hypertyrosinemia, see Tyrosinemia
- hypobetalipoproteinemia, see Familial hypobetalipoproteinemia
- hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells, see Chylomicron retention disease
- hypoceruloplasminemia, see Aceruloplasminemia
- Hypochondrodysplasia, see Hypochondroplasia
- Hypochondrogenesis
- Hypochondroplasia
- Hypochromic microcytic anemia with iron overload
- Hypocupremia, Congenital, see Menkes syndrome
- hypogammaglobulinemia, see X-linked agammaglobulinemia
- hypoglycemia with deficiency of glycogen synthetase, see Glycogen storage disease type 0
- hypogonadism with anosmia, see Kallmann syndrome
- hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome, see Woodhouse-Sakati syndrome
- hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, see Woodhouse-Sakati syndrome
- hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities, see Woodhouse-Sakati syndrome
- hypogonadotropic hypogonadism and anosmia, see Kallmann syndrome
- hypogonadotropic hypogonadism-anosmia syndrome, see Kallmann syndrome
- Hypohidrotic ectodermal dysplasia
- hypohidrotic ectodermal dysplasia with immune deficiency, see Anhidrotic ectodermal dysplasia with immune deficiency
- hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria, see Gitelman syndrome
- Hypokalemic periodic paralysis
- HypoKPP, see Hypokalemic periodic paralysis
- hypolactasia, see Lactose intolerance
- Hypomagnesemia with secondary hypocalcemia
- hypomagnesemic tetany, see Hypomagnesemia with secondary hypocalcemia
- hypomelia hypotrichosis facial hemangioma syndrome, see Roberts syndrome
- hypomyelinating leukodystrophy 2, see Pelizaeus-Merzbacher-like disease type 1
- hypomyelinating leukodystrophy, 1, see Pelizaeus-Merzbacher disease
- Hypomyelination and congenital cataract
- hypomyelination with brain stem and spinal cord involvement and leg spasticity, see Hypomyelination with brainstem and spinal cord involvement and leg spasticity
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity
- hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum, see Pol III-related leukodystrophy
- hypomyelination, hypodontia, hypogonadotropic hypogonadism, see Pol III-related leukodystrophy
- hyponychia congenita, see Anonychia congenita
- Hypophosphatasia
- hypophosphatemia, see Hereditary hypophosphatemic rickets
- hypopigmentation immunodeficiency disease, see Griscelli syndrome
- hypopigmentation-deafness syndrome, see Tietz syndrome
- hypopigmentation/deafness of Tietz, see Tietz syndrome
- hypoplasia of spleen, see Isolated congenital asplenia
- hypoplasminogenemia, see Congenital plasminogen deficiency
- hypoplastic congenital anemia, see Diamond-Blackfan anemia
- HypoPP, see Hypokalemic periodic paralysis
- hypoproconvertinemia, see Factor VII deficiency
- hypoprothrombinemia, see Prothrombin deficiency
- hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome, see Bosma arhinia microphthalmia syndrome
- hypospadias-dysphagia syndrome, see Opitz G/BBB syndrome
- hyposplenia, isolated congenital, see Isolated congenital asplenia
- hypotension, orthostatic, see Orthostatic hypotension
- hypotension, postural, see Orthostatic hypotension
- hypotonia, obesity, and prominent incisors, see Cohen syndrome
- hypotrichoses, see Autosomal recessive hypotrichosis
- hypotrichosis, see Autosomal recessive hypotrichosis
- hypoxanthine guanine phosphoribosyltransferase deficiency, see Lesch-Nyhan syndrome
- hypoxanthine phosphoribosyltransferase deficiency, see Lesch-Nyhan syndrome
- Hystrix-like ichthyosis with deafness
No hay comentarios:
Publicar un comentario