Genetic diseases-H
From WikiMD's Food, Medicine & Wellness Encyclopedia
- H-CK -- > Isolated hyperCKemia
- Haberland syndrome (formerly) -- > Encephalocraniocutaneous lipomatosis
- HAD deficiency -- > 3-hydroxyacyl-CoA dehydrogenase deficiency
- Haddad syndrome -- > Congenital central hypoventilation syndrome
- HADH deficiency -- > 3-hydroxyacyl-CoA dehydrogenase deficiency
- HADHSC deficiency -- > 3-hydroxyacyl-CoA dehydrogenase deficiency
- HAE -- > Hereditary angioedema
- haemochromatosis -- > Hereditary hemochromatosis
- haemophilia -- > Hemophilia
- haemophilia C -- > Factor XI deficiency
- Hailey-Hailey disease -- > Benign chronic pemphigus
- Hajdu-Cheney syndrome
- HAL deficiency -- > Histidinemia
- Hall-Hittner syndrome -- > CHARGE syndrome
- Hall-Pallister syndrome -- > Pallister-Hall syndrome
- Hallgren syndrome -- > Usher syndrome
- hallux abductovalgus -- > Bunion
- hallux duplication, postaxial polydactyly, and absence of corpus callosum -- > Acrocallosal syndrome
- hallux valgus -- > Bunion
- Hamel cerebropalatocardiac syndrome -- > Renpenning syndrome
- HANAC -- > Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- HANAC syndrome -- > Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- Hand-foot-genital syndrome
- Hand-foot-uterus syndrome -- > Hand-foot-genital syndrome
- HANE -- > Hereditary angioedema
- Hansen disease -- > Leprosy
- Hansen's disease -- > Leprosy
- Happle syndrome -- > X-linked chondrodysplasia punctata 2
- HARD syndrome -- > Walker-Warburg syndrome
- Harlequin baby syndrome -- > Harlequin ichthyosis
- Harlequin ichthyosis
- Hartnup disease
- Hartnup disorder -- > Hartnup disease
- Hartnup's disease -- > Hartnup disease
- Hartsfield syndrome
- Hartsfield-Bixler-Demyer syndrome -- > Hartsfield syndrome
- Hashimoto disease -- > Hashimoto thyroiditis
- Hashimoto struma -- > Hashimoto thyroiditis
- Hashimoto syndrome -- > Hashimoto thyroiditis
- Hashimoto thyroiditis
- Hashimoto's disease -- > Hashimoto thyroiditis
- Hashimoto-Pritzger disease -- > Langerhans cell histiocytosis
- HAV -- > Bunion
- Haw River syndrome -- > Dentatorubral-pallidoluysian atrophy
- Hay-Wells syndrome -- > Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- HBBD -- > Progressive familial heart block
- HbS disease -- > Sickle cell disease
- HBSL -- > Hypomyelination with brainstem and spinal cord involvement and leg spasticity
- HC -- > Hereditary hemochromatosis
- HCAHC -- > Pol III-related leukodystrophy
- HCC -- > Hypomyelination and congenital cataract
- HCH -- > Hypochondroplasia
- HCHWA -- > Hereditary cerebral amyloid angiopathy
- HCM -- > Familial hypertrophic cardiomyopathy
- HDDD1 -- > GRN-related frontotemporal dementia
- HDDD2 -- > GRN-related frontotemporal dementia
- HDGC -- > Hereditary diffuse gastric cancer
- HDL deficiency, type 2 -- > Familial HDL deficiency
- HDL Lipoprotein Deficiency Disease -- > Tangier disease
- HDLD -- > Familial HDL deficiency
- Head and neck squamous cell carcinoma
- headache migraine -- > Migraine
- headache migrainous -- > Migraine
- hearing loss, age-related -- > Age-related hearing loss
- heart-hand syndrome, type 1 -- > Holt-Oram syndrome
- HED -- > Hypohidrotic ectodermal dysplasia
- HED-ID -- > Anhidrotic ectodermal dysplasia with immune deficiency
- HED2 -- > Clouston syndrome
- Helsmoortel-van der Aa syndrome -- > ADNP syndrome
- HEM dysplasia -- > Greenberg dysplasia
- HEM skeletal dysplasia -- > Greenberg dysplasia
- hemangiomata with dyschondroplasia -- > Maffucci syndrome
- hemangiomatosis chondrodystrophica -- > Maffucci syndrome
- hemangiomatous branchial clefts-lip pseudocleft syndrome -- > Branchio-oculo-facial syndrome
- Hematoporphyria -- > Porphyria
- hematuria-nephropathy-deafness syndrome -- > Alport syndrome
- hematuric hereditary nephritis -- > Alport syndrome
- hemifacial microsomia -- > Craniofacial microsomia
- hemiplegic migraine, familial -- > Familial hemiplegic migraine
- hemiplegic-ophthalmoplegic migraine -- > Familial hemiplegic migraine
- hemochromatosis -- > Hereditary hemochromatosis
- hemoglobin M disease -- > Methemoglobinemia, beta-globin type
- Hemoglobin S Disease -- > Sickle cell disease
- Hemoglobinuria, Paroxysmal -- > Paroxysmal nocturnal hemoglobinuria
- hemophagocytic syndrome -- > Familial hemophagocytic lymphohistiocytosis
- Hemophilia
- hemophilia C -- > Factor XI deficiency
- hemophilia, familial -- > Hemophilia
- Hemophilia, familial -- > Hemophilia
- hemophilia, hereditary -- > Hemophilia
- Hemophilia, hereditary -- > Hemophilia
- hemorrhagic familial nephritis -- > Alport syndrome
- hemorrhagic hereditary nephritis -- > Alport syndrome
- hemorrhagioparous thrombocytic dystrophy -- > Bernard-Soulier syndrome
- Hennekam lymphangiectasia-lymphedema syndrome -- > Hennekam syndrome
- Hennekam syndrome
- hepatic AGT deficiency -- > Primary hyperoxaluria
- hepatic ductular hypoplasia -- > Alagille syndrome
- hepatic glycogen phosphorylase deficiency -- > Glycogen storage disease type VI
- Hepatic lipase deficiency
- Hepatic methionine adenosyltransferase deficiency -- > Hypermethioninemia
- Hepatic veno-occlusive disease with immunodeficiency
- hepatic venoocclusive disease with immunodeficiency -- > Hepatic veno-occlusive disease with immunodeficiency
- hepatocerebral mitochondrial DNA depletion syndrome -- > Deoxyguanosine kinase deficiency
- hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 -- > Combined oxidative phosphorylation deficiency 1
- hepatofacioneurocardiovertebral syndrome -- > Alagille syndrome
- hepatolenticular degeneration syndrome -- > Wilson disease
- hepatorenal form of glycogen storage disease -- > Glycogen storage disease type I
- hepatorenal glycogenosis -- > Glycogen storage disease type I
- hereditary aldosteronism -- > Familial hyperaldosteronism
- Hereditary angioedema
- hereditary angioneurotic edema -- > Hereditary angioedema
- hereditary angiopathy with nephropathy, aneurysm, and muscle cramps syndrome -- > 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 -- > Stickler syndrome
- hereditary arthro-ophthalmopathy -- > Stickler syndrome
- hereditary brachial plexus neuropathy -- > Hereditary neuralgic amyotrophy
- hereditary bundle branch defect -- > Progressive familial heart block
- hereditary bundle branch system defect -- > Progressive familial heart block
- Hereditary cerebral amyloid angiopathy
- hereditary ceruloplasmin deficiency -- > Aceruloplasminemia
- hereditary chronic pancreatitis -- > Hereditary pancreatitis
- hereditary cranium bifidum -- > Enlarged parietal foramina
- hereditary dementia, multi-infarct type -- > Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- hereditary desmoid disease -- > Desmoid tumor
- hereditary diffuse gastric adenocarcinoma -- > Hereditary diffuse gastric cancer
- Hereditary diffuse gastric cancer
- hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia -- > Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- hereditary dysphasic disinhibition dementia -- > GRN-related frontotemporal dementia
- hereditary dystopic lipidosis -- > Fabry disease
- hereditary epithelial dysplasia of retina -- > Leber congenital amaurosis
- hereditary erythrocytosis -- > Familial erythrocytosis
- hereditary essential tremor -- > Essential tremor
- hereditary factor I deficiency disease -- > Complement factor I deficiency
- hereditary familial congenital hemorrhagic nephritis -- > Alport syndrome
- hereditary ferritinopathy -- > Neuroferritinopathy
- Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
- Hereditary folate malabsorption
- Hereditary fructose intolerance
- hereditary glaucoma -- > Early-onset glaucoma
- hereditary gynecomastia -- > Aromatase excess syndrome
- hereditary haemochromatosis -- > Hereditary hemochromatosis
- hereditary hematuria syndrome -- > Alport syndrome
- Hereditary hemochromatosis
- Hereditary hemorrhagic telangiectasia
- hereditary hemorrhagic thrombasthenia -- > Glanzmann thrombasthenia
- Hereditary hyperekplexia
- hereditary hyperferritinemia with congenital cataracts -- > Hyperferritinemia-cataract syndrome
- hereditary hyperferritinemia-cataract syndrome -- > Hyperferritinemia-cataract syndrome
- hereditary hyperparathyroidism-jaw tumor syndrome -- > Hyperparathyroidism-jaw tumor syndrome
- Hereditary hypophosphatemic rickets
- Hereditary inclusion body myopathy -- > Inclusion body myopathy 2
- hereditary insensitivity to pain with anhidrosis -- > Congenital insensitivity to pain with anhidrosis
- hereditary interstitial pyelonephritis -- > Alport syndrome
- Hereditary iron-loading anemia -- > X-linked sideroblastic anemia
- Hereditary leiomyomatosis and renal cell cancer
- hereditary leiomyomatosis and renal cell carcinoma -- > Hereditary leiomyomatosis and renal cell cancer
- hereditary leukokeratosis -- > White sponge nevus
- hereditary lymphedema II -- > Meige disease
- hereditary lymphedema type I -- > Milroy disease
- hereditary motor and sensory neuropathy -- > Hereditary neuropathy with liability to pressure palsies
- hereditary motor and sensory neuropathy -- > Charcot-Marie-Tooth disease
- hereditary motor and sensory neuropathy Type IV -- > Refsum disease
- hereditary motor and sensory neuropathy with agenesis of the corpus callosum -- > Andermann syndrome
- hereditary mucosal leukokeratosis -- > White sponge nevus
- hereditary multicentric osteolysis -- > Multicentric osteolysis, nodulosis, and arthropathy
- hereditary multiple benign cystic epithelioma -- > Multiple familial trichoepithelioma
- hereditary multiple exostoses -- > Hereditary multiple osteochondromas
- Hereditary multiple osteochondromas
- hereditary myoclonus with progressive distal muscular atrophy -- > Spinal muscular atrophy with progressive myoclonic epilepsy
- Hereditary myopathy with early respiratory failure
- hereditary myopathy with lactic acidosis -- > Myopathy with deficiency of iron-sulfur cluster assembly enzyme
- hereditary nephritis -- > Alport syndrome
- Hereditary neuralgic amyotrophy
- Hereditary neuropathy with liability to pressure palsies
- hereditary nonpolyposis colorectal cancer -- > Lynch syndrome
- hereditary nonpolyposis colorectal neoplasms -- > Lynch syndrome
- hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency -- > Triosephosphate isomerase deficiency
- hereditary oligophrenic cerebello-lental degeneration -- > Marinesco-Sjögren syndrome
- hereditary onycho-osteodysplasia -- > Nail-patella syndrome
- hereditary opalescent dentin -- > Dentinogenesis imperfecta
- hereditary optic neuroretinopathy -- > Leber hereditary optic neuropathy
- hereditary oral keratosis -- > White sponge nevus
- hereditary osteo-onychodysplasia -- > Nail-patella syndrome
- hereditary osteodysplasia with acro-osteolysis -- > Hajdu-Cheney syndrome
- Hereditary pancreatitis
- Hereditary paraganglioma-pheochromocytoma
- hereditary paraganglioma-pheochromocytoma syndromes -- > Hereditary paraganglioma-pheochromocytoma
- hereditary pheochromocytoma-paraganglioma -- > Hereditary paraganglioma-pheochromocytoma
- hereditary pressure sensitive neuropathy -- > Hereditary neuropathy with liability to pressure palsies
- hereditary progressive dystonia with marked diurnal fluctuation -- > Dopa-responsive dystonia
- hereditary pulmonary emphysema -- > Alpha-1 antitrypsin deficiency
- hereditary renal hypouricemia -- > Renal hypouricemia
- Hereditary resistance to activated protein C -- > Factor V Leiden thrombophilia
- hereditary retinal aplasia -- > Leber congenital amaurosis
- hereditary sclerosing poikiloderma with tendon and pulmonary involvement -- > Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
- hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss -- > Hereditary sensory and autonomic neuropathy type IE
- hereditary sensory and autonomic neuropathy type 2 -- > 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 -- > Congenital insensitivity to pain with anhidrosis
- Hereditary sensory and autonomic neuropathy type V
- hereditary sensory and autonomic neuropathy, type 4 -- > Congenital insensitivity to pain with anhidrosis
- hereditary sensory and autonomic neuropathy, type 5 -- > Hereditary sensory and autonomic neuropathy type V
- hereditary sensory and autonomic neuropathy, type IA -- > Hereditary sensory neuropathy type IA
- Hereditary sensory neuropathy type IA
- hereditary sensory neuropathy type IE -- > Hereditary sensory and autonomic neuropathy type IE
- Hereditary Spastic Paraplegia -- > Troyer syndrome
- Hereditary Spastic Paraplegia -- > Spastic paraplegia type 7
- hereditary spastic paraplegia 8 -- > Spastic paraplegia type 8
- hereditary spastic paraplegia, paraplegin type -- > Spastic paraplegia type 7
- Hereditary spherocytosis
- hereditary SWI/SNF deficiency syndrome -- > Rhabdoid tumor predisposition syndrome
- hereditary syndrome of lumpy scalp, odd ears, and rudimentary nipples -- > Scalp-ear-nipple syndrome
- hereditary thrombasthenia -- > Glanzmann thrombasthenia
- hereditary thrombophilia due to protein C deficiency -- > Protein C deficiency
- hereditary thrombophilia due to protein S deficiency -- > Protein S deficiency
- hereditary thymine-uraciluria -- > Dihydropyrimidine dehydrogenase deficiency
- hereditary tyrosinemia -- > Tyrosinemia
- hereditary unconjugated hyperbilirubinemia -- > Crigler-Najjar syndrome
- hereditary unresponsiveness to adrenocorticotropic hormone -- > Familial glucocorticoid deficiency
- hereditary ventricular hypertrophy -- > Familial hypertrophic cardiomyopathy
- Hereditary X-linked Recessive Spastic Paraplegia -- > Spastic paraplegia type 2
- Hereditary xanthinuria
- heredofamilial neuritis with brachial plexus predilection -- > Hereditary neuralgic amyotrophy
- heredopathia atactica polyneuritiformis -- > Refsum disease
- heredoretinopathia congenitalis -- > Leber congenital amaurosis
- heritable hypertrophic cardiomyopathy -- > Familial hypertrophic cardiomyopathy
- Hermansky-Pudlak syndrome
- hernia, abdominal -- > Abdominal wall defect
- herpes zoster -- > Shingles
- Hers disease -- > Glycogen storage disease type VI
- heterotaxy -- > Heterotaxy syndrome
- Heterotaxy syndrome
- heterotopia, subcortical band -- > Subcortical band heterotopia
- heterotopic ossification -- > Progressive osseous heteroplasia
- heterozygous OSMED -- > Weissenbacher-Zweymüller syndrome
- heterozygous otospondylomegaepiphyseal dysplasia -- > Weissenbacher-Zweymüller syndrome
- HexA deficiency -- > Tay-Sachs disease
- Hexosaminidase A and B Deficiency Disease -- > Sandhoff disease
- Hexosaminidase A deficiency -- > Tay-Sachs disease
- Hexosaminidase activator deficiency -- > GM2-gangliosidosis, AB variant
- Hexosaminidase alpha-subunit deficiency (variant B) -- > Tay-Sachs disease
- HFG syndrome -- > Hand-foot-genital syndrome
- HFGS -- > Hand-foot-genital syndrome
- HFM -- > Craniofacial microsomia
- HFP -- > Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
- HFTC -- > Hyperphosphatemic familial tumoral calcinosis
- HFU syndrome -- > Hand-foot-genital syndrome
- HGPPS -- > Horizontal gaze palsy with progressive scoliosis
- HGPRT deficiency -- > Lesch-Nyhan syndrome
- HGPS -- > Hutchinson-Gilford progeria syndrome
- HH -- > Hereditary hemochromatosis
- HHCS -- > Hyperferritinemia-cataract syndrome
- HHES -- > Hartsfield syndrome
- HHH syndrome -- > Ornithine translocase deficiency
- HHT -- > Hereditary hemorrhagic telangiectasia
- HI -- > Harlequin ichthyosis
- HIBM -- > Inclusion body myopathy 2
- HID syndrome -- > Hystrix-like ichthyosis with deafness
- hidradenitides, suppurative -- > Hidradenitis suppurativa
- Hidradenitis suppurativa
- hidradenitis, suppurative -- > Hidradenitis suppurativa
- hidrotic ectodermal dysplasia 2 -- > Clouston syndrome
- high blood pressure -- > Hypertension
- high myopia and sensorineural deafness -- > Deafness and myopia syndrome
- high myopia-sensorineural deafness syndrome -- > Deafness and myopia syndrome
- HIGM1 -- > X-linked hyper IgM syndrome
- Hippel-Lindau disease -- > Von Hippel-Lindau syndrome
- Hirschsprung disease
- Hirschsprung disease-mental retardation syndrome -- > Mowat-Wilson syndrome
- Hirschsprung's disease -- > Hirschsprung disease
- HIS deficiency -- > Histidinemia
- histidase deficiency -- > Histidinemia
- histidine ammonia-lyase deficiency -- > Histidinemia
- Histidinemia
- histiocytic medullary reticulosis -- > Omenn syndrome
- histiocytosis X -- > Langerhans cell histiocytosis
- Histiocytosis-lymphadenopathy plus syndrome
- HIVEP2-related intellectual disability
- HJCYS -- > Hajdu-Cheney syndrome
- HL deficiency -- > Hepatic lipase deficiency
- HLA class I deficiency -- > Bare lymphocyte syndrome type I
- HLAH -- > Hereditary hemochromatosis
- HLCS deficiency -- > Holocarboxylase synthetase deficiency
- HLD1 -- > Pelizaeus-Merzbacher disease
- HLD2 -- > Pelizaeus-Merzbacher-like disease type 1
- HLD7 -- > Pol III-related leukodystrophy
- HLD8 -- > Pol III-related leukodystrophy
- HLRCC -- > Hereditary leiomyomatosis and renal cell cancer
- HMCS -- > McKusick-Kaufman syndrome
- HMERF -- > Hereditary myopathy with early respiratory failure
- HMG -- > 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- HMG-CoA lyase deficiency -- > 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- HML -- > Myopathy with deficiency of iron-sulfur cluster assembly enzyme
- HMN V -- > Distal hereditary motor neuropathy, type V
- HMN6 -- > Spinal muscular atrophy with respiratory distress type 1
- HMNDYT -- > Hypermanganesemia with dystonia
- HMNVI -- > Spinal muscular atrophy with respiratory distress type 1
- HMSN -- > Charcot-Marie-Tooth disease
- HMSN IV -- > Refsum disease
- HMSN type IV -- > Refsum disease
- HMSN/ACC -- > Andermann syndrome
- HNA -- > Hereditary neuralgic amyotrophy
- HNPCC -- > Lynch syndrome
- HNPP -- > Hereditary neuropathy with liability to pressure palsies
- HNSCC -- > Head and neck squamous cell carcinoma
- HOGA -- > Gyrate atrophy of the choroid and retina
- HOKPP -- > Hypokalemic periodic paralysis
- Holocarboxylase synthetase deficiency
- holoprosencephaly and split hand/foot syndrome -- > Hartsfield syndrome
- holoprosencephaly sequence -- > Nonsyndromic holoprosencephaly
- holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate -- > Hartsfield syndrome
- holoprosencephaly, hypertelorism, and ectrodactyly syndrome -- > Hartsfield syndrome
- Holt-Oram syndrome
- HOMG -- > Hypomagnesemia with secondary hypocalcemia
- homocysteinemia -- > Homocystinuria
- Homocystinuria
- homogentisic acid oxidase deficiency -- > Alkaptonuria
- homogentisic acidura -- > Alkaptonuria
- homozygous PAI-1 deficiency -- > Complete plasminogen activator inhibitor 1 deficiency
- honeycomb myocardium -- > Left ventricular noncompaction
- Horizontal gaze palsy with progressive scoliosis
- Horner syndrome
- Horner's syndrome -- > Horner syndrome
- Hornstein-Birt-Hogg-Dubé syndrome -- > Birt-Hogg-Dubé syndrome
- Hornstein-Knickenberg syndrome -- > Birt-Hogg-Dubé syndrome
- HOS -- > Holt-Oram syndrome
- HP -- > Hereditary pancreatitis
- HPLH -- > Familial hemophagocytic lymphohistiocytosis
- HPS -- > Hermansky-Pudlak syndrome
- HPT-JT -- > Hyperparathyroidism-jaw tumor syndrome
- HS -- > Hereditary spherocytosis
- HSAN IA -- > Hereditary sensory neuropathy type IA
- HSAN type II -- > Hereditary sensory and autonomic neuropathy type II
- HSAN Type III -- > Familial dysautonomia
- HSAN type IV -- > Congenital insensitivity to pain with anhidrosis
- HSAN type V -- > Hereditary sensory and autonomic neuropathy type V
- HSAN V -- > Hereditary sensory and autonomic neuropathy type V
- HSAN1A -- > Hereditary sensory neuropathy type IA
- HSAN1E -- > Hereditary sensory and autonomic neuropathy type IE
- HSAN2 -- > Hereditary sensory and autonomic neuropathy type II
- HSAN2A -- > Hereditary sensory and autonomic neuropathy type II
- HSAN2B -- > Hereditary sensory and autonomic neuropathy type II
- HSAN2C -- > Hereditary sensory and autonomic neuropathy type II
- HSAN2D -- > Hereditary sensory and autonomic neuropathy type II
- HSAN3 -- > Familial dysautonomia
- HSAN4 -- > Congenital insensitivity to pain with anhidrosis
- HSAN5 -- > Hereditary sensory and autonomic neuropathy type V
- HSANII -- > Hereditary sensory and autonomic neuropathy type II
- HSCR -- > Hirschsprung disease
- HSD10 deficiency -- > HSD10 disease
- HSD10 disease
- HSH -- > Hypomagnesemia with secondary hypocalcemia
- HSN IA -- > Hereditary sensory neuropathy type IA
- HSN IE -- > Hereditary sensory and autonomic neuropathy type IE
- HSN type II -- > Hereditary sensory and autonomic neuropathy type II
- HSN-III -- > Familial dysautonomia
- HSN1A -- > Hereditary sensory neuropathy type IA
- HSNIE -- > Hereditary sensory and autonomic neuropathy type IE
- HSP-TCC -- > Spastic paraplegia type 11
- HTL -- > Autosomal recessive hypotrichosis
- HTX -- > Heterotaxy syndrome
- Hughes syndrome -- > Antiphospholipid syndrome
- humero-spinal dysostosis -- > CHST3-related skeletal dysplasia
- Hunter Syndrome -- > Mucopolysaccharidosis type II
- Huntington chorea -- > Huntington disease
- Huntington chronic progressive hereditary chorea -- > Huntington disease
- Huntington disease
- Huntington disease-like syndrome
- Huntington disease-like syndromes -- > Huntington disease-like syndrome
- Huntington's chorea -- > Huntington disease
- Huntington's disease -- > Huntington disease
- Huntington's disease phenocopies -- > Huntington disease-like syndrome
- Huntington's disease phenocopy syndromes -- > Huntington disease-like syndrome
- Huntington's disease-like syndromes -- > Huntington disease-like syndrome
- Hurler syndrome -- > Mucopolysaccharidosis type I
- Hurler-Scheie syndrome -- > Mucopolysaccharidosis type I
- Hutchinson-Gilford progeria syndrome
- Hutchinson-Gilford syndrome -- > Hutchinson-Gilford progeria syndrome
- Hutterite syndrome -- > Bowen-Conradi syndrome
- HV -- > Bunion
- HVDAS -- > ADNP syndrome
- Hyaline fibromatosis syndrome
- hyalinosis cutis et mucosae -- > Lipoid proteinosis
- hyaloideoretinal degeneration of Wagner -- > Wagner syndrome
- hydrocephalus, agyria, and retinal dysplasia -- > Walker-Warburg syndrome
- hydrocephalus, internal, Dandy-Walker type -- > Dandy-Walker malformation
- hydrocephalus, noncommunicating, Dandy-Walker type -- > Dandy-Walker malformation
- Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation -- > McKusick-Kaufman syndrome
- hydronephrosis with peculiar facial expression -- > Ochoa syndrome
- hydronephrosis-inverted smile -- > Ochoa syndrome
- hydrops - ectopic calcification - moth-eaten skeletal dysplasia -- > Greenberg dysplasia
- hydroxyacyl-CoA dehydrogenase II deficiency -- > HSD10 disease
- Hydroxymethylglutaric aciduria -- > 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- hyper IgD syndrome -- > Mevalonate kinase deficiency
- hyper IgE recurrent infection syndrome, autosomal recessive -- > DOCK8 immunodeficiency syndrome
- hyper immunoglobulin E syndrome, autosomal recessive -- > DOCK8 immunodeficiency syndrome
- hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia -- > Anhidrotic ectodermal dysplasia with immune deficiency
- Hyper-IgM syndrome 1 -- > X-linked hyper IgM syndrome
- hyperaldosteronism, familial -- > Familial hyperaldosteronism
- hyperammonemia due to carbonic anhydrase VA deficiency -- > Carbonic anhydrase VA deficiency
- hyperammonemia, type III -- > N-acetylglutamate synthase deficiency
- hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency -- > Carbonic anhydrase VA deficiency
- Hyperargininemia -- > Arginase deficiency
- hyperbilirubinemia 1 -- > Gilbert syndrome
- hyperbilirubinemia II -- > Dubin-Johnson syndrome
- hyperbilirubinemia, Dubin-Johnson type -- > Dubin-Johnson syndrome
- hyperbilirubinemia, Rotor type -- > Rotor syndrome
- hypercalcemia-supravalvar aortic stenosis -- > Williams syndrome
- Hypercholesterolemia
- hypercortisolism -- > Cushing disease
- Hyperdibasic aminoaciduria -- > Lysinuric protein intolerance
- hyperekplexia -- > Hereditary hyperekplexia
- Hyperferritinemia-cataract syndrome
- hyperfibrinolysis due to PAI1 deficiency -- > Complete plasminogen activator inhibitor 1 deficiency
- hyperglycinemia with ketoacidosis and leukopenia -- > Propionic acidemia
- Hyperglycinemia, Nonketotic -- > Glycine encephalopathy
- hyperhistidinemia -- > Histidinemia
- hyperimidodipeptiduria -- > Prolidase deficiency
- hyperimmunoglobulin D with periodic fever -- > Mevalonate kinase deficiency
- hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive -- > DOCK8 immunodeficiency syndrome
- hyperimmunoglobulin E syndrome type 2 -- > DOCK8 immunodeficiency syndrome
- hyperimmunoglobulinemia D -- > Mevalonate kinase deficiency
- hyperinsulinemia hypoglycemia of infancy -- > Congenital hyperinsulinism
- Hyperkalemic periodic paralysis
- hyperkeratosis, epidermolytic -- > Epidermolytic hyperkeratosis
- hyperkinetic disorder -- > Attention-deficit/hyperactivity disorder
- hyperkinetic syndrome -- > Attention-deficit/hyperactivity disorder
- hyperKPP -- > Hyperkalemic periodic paralysis
- hyperlipidemia due to hepatic triglyceride lipase deficiency -- > Hepatic lipase deficiency
- hyperlipoproteinemia type I -- > Familial lipoprotein lipase deficiency
- hyperlipoproteinemia type Ia -- > Familial lipoprotein lipase deficiency
- Hyperlysinemia
- Hypermanganesemia with dystonia
- Hypermethioninemia
- hypermetropia -- > Farsightedness
- hyperopia -- > Farsightedness
- hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome -- > Ornithine translocase deficiency
- hyperornithinemia with gyrate atrophy of choroid and retina -- > Gyrate atrophy of the choroid and retina
- hyperornithinemia-hyperammonemia-homocitrullinemia syndrome -- > Ornithine translocase deficiency
- hyperornithinemia-hyperammonemia-homocitrullinuria syndrome -- > Ornithine translocase deficiency
- hyperostosis corticalis deformans juvenilis -- > Juvenile Paget disease
- hyperostosis corticalis generalisata -- > SOST-related sclerosing bone dysplasia
- hyperostosis, monomelic -- > Melorheostosis
- hyperotosis corticalis generalisata familiaris -- > SOST-related sclerosing bone dysplasia
- hyperoxaluria, primary -- > Primary hyperoxaluria
- hyperparathyroidism 1 -- > Familial isolated hyperparathyroidism
- hyperparathyroidism 2 -- > Hyperparathyroidism-jaw tumor syndrome
- Hyperparathyroidism-jaw tumor syndrome
- hyperphenylalaninemia caused by a defect in biopterin metabolism -- > Tetrahydrobiopterin deficiency
- hyperphenylalaninemia, non-phenylketonuric -- > Tetrahydrobiopterin deficiency
- hyperphosphatasemia tarda -- > SOST-related sclerosing bone dysplasia
- hyperphosphatasemia with bone disease -- > Juvenile Paget disease
- hyperphosphatasia with mental retardation syndrome -- > Mabry syndrome
- hyperphosphatasia with seizures and neurologic deficit -- > Mabry syndrome
- hyperphosphatasia, familial idiopathic -- > Juvenile Paget disease
- hyperphosphatemia hyperostosis -- > Hyperphosphatemic familial tumoral calcinosis
- hyperphosphatemia hyperostosis syndrome -- > Hyperphosphatemic familial tumoral calcinosis
- hyperphosphatemia tumoral calcinosis -- > Hyperphosphatemic familial tumoral calcinosis
- Hyperphosphatemic familial tumoral calcinosis
- hyperPP -- > Hyperkalemic periodic paralysis
- Hyperprolinemia
- hyperprothrombinemia -- > Prothrombin thrombophilia
- Hyperpyrexia, Malignant -- > Malignant hyperthermia
- hypertelorism with esophageal abnormalities and hypospadias -- > Opitz G/BBB syndrome
- hypertelorism-hypospadias sydrome -- > Opitz G/BBB syndrome
- Hypertension
- Hyperthermia, Malignant -- > Malignant hyperthermia
- hypertrabeculation syndrome -- > Left ventricular noncompaction
- hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome -- > Cantú syndrome
- hypertrichotic osteochondrodysplasia -- > Cantú syndrome
- hypertrophic arthritis -- > Osteoarthritis
- hypertyrosinaemia -- > Tyrosinemia
- hypertyrosinemia -- > Tyrosinemia
- hypobetalipoproteinemia -- > Familial hypobetalipoproteinemia
- hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells -- > Chylomicron retention disease
- hypoceruloplasminemia -- > Aceruloplasminemia
- Hypochondrodysplasia -- > Hypochondroplasia
- Hypochondrogenesis
- Hypochondroplasia
- Hypochromic microcytic anemia with iron overload
- Hypocupremia, Congenital -- > Menkes syndrome
- hypogammaglobulinemia -- > X-linked agammaglobulinemia
- hypoglycemia with deficiency of glycogen synthetase -- > Glycogen storage disease type 0
- hypogonadism with anosmia -- > Kallmann syndrome
- hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome -- > Woodhouse-Sakati syndrome
- hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome -- > Woodhouse-Sakati syndrome
- hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities -- > Woodhouse-Sakati syndrome
- hypogonadotropic hypogonadism and anosmia -- > Kallmann syndrome
- hypogonadotropic hypogonadism-anosmia syndrome -- > Kallmann syndrome
- Hypohidrotic ectodermal dysplasia
- hypohidrotic ectodermal dysplasia with immune deficiency -- > Anhidrotic ectodermal dysplasia with immune deficiency
- hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria -- > Gitelman syndrome
- Hypokalemic periodic paralysis
- HypoKPP -- > Hypokalemic periodic paralysis
- hypolactasia -- > Lactose intolerance
- Hypomagnesemia with secondary hypocalcemia
- hypomagnesemic tetany -- > Hypomagnesemia with secondary hypocalcemia
- hypomelia hypotrichosis facial hemangioma syndrome -- > Roberts syndrome
- hypomyelinating leukodystrophy 2 -- > Pelizaeus-Merzbacher-like disease type 1
- hypomyelinating leukodystrophy, 1 -- > Pelizaeus-Merzbacher disease
- Hypomyelination and congenital cataract
- hypomyelination with brain stem and spinal cord involvement and leg spasticity -- > 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 -- > Pol III-related leukodystrophy
- hypomyelination, hypodontia, hypogonadotropic hypogonadism -- > Pol III-related leukodystrophy
- hyponychia congenita -- > Anonychia congenita
- Hypophosphatasia
- hypophosphatemia -- > Hereditary hypophosphatemic rickets
- hypopigmentation immunodeficiency disease -- > Griscelli syndrome
- hypopigmentation-deafness syndrome -- > Tietz syndrome
- hypopigmentation/deafness of Tietz -- > Tietz syndrome
- hypoplasia of spleen -- > Isolated congenital asplenia
- hypoplasminogenemia -- > Congenital plasminogen deficiency
- hypoplastic congenital anemia -- > Diamond-Blackfan anemia
- HypoPP -- > Hypokalemic periodic paralysis
- hypoproconvertinemia -- > Factor VII deficiency
- hypoprothrombinemia -- > Prothrombin deficiency
- hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome -- > Bosma arhinia microphthalmia syndrome
- hypospadias-dysphagia syndrome -- > Opitz G/BBB syndrome
- hyposplenia, isolated congenital -- > Isolated congenital asplenia
- hypotension, orthostatic -- > Orthostatic hypotension
- hypotension, postural -- > Orthostatic hypotension
- hypotonia, obesity, and prominent incisors -- > Cohen syndrome
- hypotrichoses -- > Autosomal recessive hypotrichosis
- hypotrichosis -- > Autosomal recessive hypotrichosis
- hypoxanthine guanine phosphoribosyltransferase deficiency -- > Lesch-Nyhan syndrome
- hypoxanthine phosphoribosyltransferase deficiency -- > Lesch-Nyhan syndrome
- Hystrix-like ichthyosis with deafness
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD