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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With H

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* H. influenzae - See Haemophilus influenzae
* HA/HI syndrome - See Hyperinsulinism-hyperammonemia syndrome
* HABC - See Hypomyelination with atrophy of basal ganglia and cerebellum
* H-ABC - See Hypomyelination with atrophy of basal ganglia and cerebellum
* Haberland syndrome - See Encephalocraniocutaneous lipomatosis
* Haberland syndrome - See Lipoamide dehydrogenase deficiency
* Habrodysplasia - See Gracile bone dysplasia
* Habsburg jaw - See Prognathism mandibular
* Haddad syndrome - See Hemimegalencephaly
* HADH deficiency - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
* HAE - See Hereditary angioedema
* HAE 2 - See Hereditary angioedema
* HAE-II - See Hereditary angioedema
* Haemoglobinemia - See Hemoglobinemia
* Haemophilia A - See Hemophilia A
* Haemophilus influenzae
* Haemorrhagic proctocolitis - See Hemorrhagic proctocolitis
* HAF deficiency - See Factor XII deficiency
* Hageman factor deficiency - See Factor XII deficiency
* Hagemoser Weinstein Bresnick syndrome - See Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy
* Hailey-Hailey disease
* Haim-Munk syndrome
* Hair defect - photosensitivity - intellectual disability - See Hair defect with photosensitivity and mental retardation
* Hair defect with photosensitivity and mental retardation
*   HAIR-AN syndrome
* Hair-pulling syndrome - See Trichotillomania
* Hairy cell leukemia
* Hairy cutaneous malformations of palms and soles - See Hairy palms and soles
* Hairy elbows
* Hairy elbows, short stature, facial dysmorphism, and developmental delay - See Wiedemann-Steiner syndrome
* Hairy epidermal nevus syndrome - See Becker nevus syndrome
* Hairy nose tip
* Hairy palms and soles
* Hairy throat - See Hypertrichosis, anterior cervical
* Hairy throat syndrome - See Hypertrichosis, anterior cervical
* Hairy tongue
* Hajdu-Cheney syndrome
* HAL deficiency - See Histidinemia
* Halal Setton Wang syndrome
* Halal syndrome
* Hal-Berg-Rudolph syndrome - See Pseudoprogeria syndrome
* Hall Riggs mental retardation syndrome
* Hallermam Streiff like syndrome - See Dennis Fairhurst Moore syndrome
* Hallermann Streiff Francois syndrome - See Hallermann-Streiff syndrome
* Hallermann Streiff syndrome - See Hallermann-Streiff syndrome
* Hallermann-Streiff syndrome
* Hallervorden-Spatz disease - See Pantothenate kinase-associated neurodegeneration
* Hallervorden-Spatz syndrome - See Pantothenate kinase-associated neurodegeneration
* Hallgren syndrome - See Usher syndrome
* Hall-Hittner syndrome - See CHARGE syndrome
* Hallux syndactyly ulnar polydactyly abnormal ear lobes - See Syndactyly-polydactyly-earlobe syndrome
* Hallux varus - preaxial polysyndactyly - See Kleiner Holmes syndrome
* Hallux varus and preaxial polysyndactyly - See Kleiner Holmes syndrome
* Halo nevi
* HAM syndrome - See Partial androgen insensitivity syndrome
* HAM/TSP - See HTLV-1 associated myelopathy/tropical spastic paraparesis
* Hamanishi Ueba Tsuji syndrome
* Hamanishi-Ueba-Tsuji syndrome - See Hamanishi Ueba Tsuji syndrome
* Hamann Zanki schimrigk syndrome - See Spasticity multiple exostoses
* Hamano Tsukamoto syndrome - See Spinal atrophy ophthalmoplegia pyramidal syndrome
* Hamano-Tsukamoto syndrome - See Spinal atrophy ophthalmoplegia pyramidal syndrome
* Hamartoma of the hypothalamus - See Hypothalamic hamartomas
* Hamartomatous intestinal polyposis - See Juvenile polyposis syndrome
* Hamman-Rich disease - See Idiopathic pulmonary fibrosis
* Hamman-Rich syndrome - See Idiopathic pulmonary fibrosis
* HANAC syndrome - See Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
* Hand and foot deformity - flat facies - See Hand and foot deformity with flat facies
* Hand and foot deformity with flat facies
* Hand foot genital syndrome - See Hand foot uterus syndrome
* Hand foot uterus syndrome
* Hand-foot-genital syndrome - See Hand foot uterus syndrome
* Hand-foot-uterus syndrome - See Hand foot uterus syndrome
*   Handigodu disease
*   Handigodu joint disease - See Handigodu disease
* Hand-Schuller-Christian disease
* Hand-Schuller-Christian syndrome - See Hand-Schuller-Christian disease
* Hand-Schüller-Christian syndrome (formerly) - See Langerhans cell histiocytosis
* HANE - See Hereditary angioedema
* Hanhart dwarfism - See Pituitary hormone deficiency, combined 2
* Hanhart syndrome
* Hanot syndrome - See Primary biliary cirrhosis
* Hansen's disease
* Hantavirus - See Hantavirus pulmonary syndrome
* Hantavirus pulmonary syndrome
* Hantavirus-associated respiratory distress syndrome - See Hantavirus pulmonary syndrome
* HAPH - See Pulmonary edema of mountaineers
* Hapnes Boman Skeie syndrome - See Tendons, extensor, of fingers, anomalous insertion of
* Hapnes-Boman-Skeie syndrome - See Tendons, extensor, of fingers, anomalous insertion of
* Happle syndrome - See Chondrodysplasia punctata 2 X-linked dominant
* Happy puppet syndrome (formerly) - See Angelman syndrome
* Hapsburg jaw - See Prognathism mandibular
* Harboyan syndrome - See Corneal dystrophy and perceptive deafness
* Hard +/- E syndrome - See Walker-Warburg syndrome
* Hard skin syndrome Parana type
* Hard syndrome - See Walker-Warburg syndrome
* Hardcastle syndrome - See Diaphyseal medullary stenosis with malignant fibrous histiocytoma
* Hardikar syndrome
* Harding ataxia
* HARDS - See Hantavirus pulmonary syndrome
* Hard-skin syndrome, Parana type - See Hard skin syndrome Parana type
* Harlequin fetus - See Harlequin ichthyosis
* Harlequin ichthyosis
* Harlequin syndrome
* Harrod Doman Keele syndrome
* Harrod syndrome - See Harrod Doman Keele syndrome
* Hartnup disease
* Hartnup disorder - See Hartnup disease
* HAS - See Adie syndrome
* Hashimoto encephalitis - See Hashimoto's encephalitis
* Hashimoto-Pritzker disease - See Hashimoto-Pritzker syndrome
* Hashimoto-Pritzker histiocytosis - See Hashimoto-Pritzker syndrome
* Hashimoto-Pritzker syndrome
*   Hashimoto's disease - See Hashimoto's syndrome
* Hashimoto's encephalitis
* Hashimoto's encephalopathy - See Hashimoto's encephalitis
*   Hashimoto's struma - See Hashimoto's syndrome
*   Hashimoto's syndrome
* Haspeslagh syndrome - See Pterygia, mental retardation and distinctive craniofacial features
* HAT - See Heparin-induced thrombocytopenia
* Haw River syndrome - See Dentatorubral-pallidoluysian atrophy
* Hawkinsinuria
* Hay-Wells syndrome
* Hb C disease - See Hemoglobin C disease
* Hb S beta-thalassemia - See Sickle beta thalassemia
* HBOC - See BRCA2 hereditary breast and ovarian cancer syndrome
* HbS disease - See Sickle cell anemia
* HbSC disease - See Hemoglobin SC disease
* HbSD disease - See Sickle cell - hemoglobin D disease
*   HbSE disease - See Hemoglobin SE disease
* Hb-Zurich - See Hemoglobin Zurich
* HCC - See Liver cancer
* HCFP1 - See Hereditary congenital facial paresis
* HCG - See Hypertrichosis congenital generalized X-linked
* HCH - See Hypochondroplasia
* HCL - See Hairy cell leukemia
* HCP - See Hereditary coproporphyria
* HD - See Huntington disease
* HD- Westphal variant - See Westphal disease
* HDDD - See Frontotemporal dementia, ubiquitin-positive
* HDGC - See Hereditary diffuse gastric cancer
* Hdl lipoprotein deficiency disease - See Tangier disease
* HDL4 - See Spinocerebellar ataxia 17
* HDLD - See Familial HDL deficiency
* HDLDT1 - See Tangier disease
* HDLS - See Hereditary diffuse leukoencephalopathy with spheroids
* HDR syndrome - See Barakat syndrome
* HE - See Ehrlichiosis
* HE - See Hereditary elliptocytosis
* Head and neck arteriovenous malformation - See Extracranial arteriovenous malformation
* Head and neck AVM - See Extracranial arteriovenous malformation
* Head and neck squamous cell carcinoma - See Squamous cell carcinoma of the head and neck
* Hearing loss and familial salivary gland insensitivity to aldosterone - See Tunglang Savage Bellman syndrome
* Hearing loss ankle anomalies and neurological regression/dementia - See Wright Dyck syndrome
* Hearing loss insensitivity to aldosterone - See Tunglang Savage Bellman syndrome
* Heart block congenital - See Congenital heart block
* Heart block progressive familial type 1 - See Progressive familial heart block type 1A
* Heart block progressive familial type 1B - See Progressive familial heart block type 1B
* Heart block progressive familial type 2 - See Progressive familial heart block type 2
* Heart defect - round face - congenital developmental delay - See Sonoda syndrome
* Heart defect, tongue hamartoma and polysyndactyly
* Heart defects and limb shortening - See Cardioskeletal syndrome Kuwaiti type
* Heart defect-tongue hamartoma-polysyndactyly syndrome - See Orstavik Lindemann Solberg syndrome
* Heart septal defects, ventricular - See Ventricular septal defects
* Heart tumor
* Heart valve pulmonary stenosis - See Pulmonary valve stenosis
* Heart-hand syndrome - See Holt-Oram syndrome
* Heart-hand syndrome 2 - See Tabatznik syndrome
* Heart-hand syndrome type 1 - See Holt-Oram syndrome
* Heart-hand syndrome type 3 - See Heart-hand syndrome,Spanish type
* Heart-hand syndrome, Slovenian type
* Heart-hand syndrome, Spanish type - See Heart-hand syndrome,Spanish type
* Heart-hand syndrome, type 1 - See Holt-Oram syndrome
* Heart-hand syndrome,Spanish type
* Heart-limb syndrome type 3 - See Heart-hand syndrome,Spanish type
* Heavy metal poisoning
* Heavy Metal Toxicity - See Heavy metal poisoning
* HEC syndrome
* Hecht syndrome - See Trismus-pseudocamptodactyly syndrome
* Hecht-Beals syndrome - See Trismus-pseudocamptodactyly syndrome
* Hecht-Scott syndrome - See Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
* HED - See Hypohidrotic ectodermal dysplasia
* HED - See Ectodermal dysplasia 2, hidrotic
* HEDH syndrome - See Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
* HED-ID - See Hypohidrotic ectodermal dysplasia with immune deficiency
* Heimler syndrome - See Deafness enamel hypoplasia nail defects
* Heinz body anemia - See Acute respiratory distress syndrome
* Heinz body anemias
* HELLP syndrome
* Helminthiasis
* HEM - See Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
* HEM A - See Hemophilia A
* HEM B - See Hemophilia B
* HEM dysplasia - See Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
* HEM/Greenberg dysplasia - See Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
* Hemangioblastoma
* Hemangioendothelioma
*   Hemangioma
* Hemangioma thrombocytopenia syndrome
* Hemangiomas cavernous of face supraumbilical midline raphe - See Supraumbilical midabdominal raphe and facial cavernous hemangiomas
* Hemangioma-thrombocytopenia syndrome - See Hemangioma thrombocytopenia syndrome
* Hemangiomatosis Chondrodystrophica - See Maffucci syndrome
* Hemangiomatosis, familial pulmonary capillary
* Hemangiomatous branchial clefts-lip pseudocleft syndrome - See Branchiooculofacial syndrome
* Hemangiopericytoma
* Hematite pneumoconiosis - See Silicosiderosis
* Heme synthetase deficiency - See Erythropoietic protoporphyria
* Hemeralopia, congenital essential
* Hemeralopia, familial
* Hemeralopia-myopia - See X-linked congenital stationary night blindness
* Hemi 3 syndrome
* Hemicord syndrome - See Brown-Sequard syndrome
* Hemicorporal hypertrophy - See Hemi 3 syndrome
* Hemicrania continua
* Hemifacial atrophy agenesis of the caudate nucleus
* Hemifacial atrophy, progressive - See Progressive hemifacial atrophy
* Hemifacial hyperplasia - strabismus - See Hemifacial hyperplasia strabismus
* Hemifacial hyperplasia strabismus
* Hemifacial microsomia
* Hemifacial microsomia - radial defects - See Microsomia hemifacial radial defects
* Hemifacial microsomia with radial defects - See Microsomia hemifacial radial defects
* Hemifacial myohyperplasia
* Hemihyperplasia-multiple lipomatosis syndrome - See Xeroderma pigmentosum type 7
* Hemihypertrophy - See Hemi 3 syndrome
* Hemihypertrophy and macrocephaly - See Proteus syndrome
* Hemihypertrophy intestinal web corneal opacity
* Hemimegalencephaly
* Hemiparaplegic syndrome - See Brown-Sequard syndrome
* Hemiplegia
* Hemiplegia, infantile, with porencephaly - See Familial porencephaly
* Hemiplegic migraine
* Hemiplegic Migraine, Familial - See Familial hemiplegic migraine
* Hemiplegic migraine, familial type 1 - See Familial hemiplegic migraine type 1
* Hemiplegic migraine, familial type 2 - See Familial hemiplegic migraine type 2
* Hemiplegic migraine, familial type 3 - See Familial hemiplegic migraine type 3
* Hemiplegic-ophthalmoplegic migraine - See Familial hemiplegic migraine
* Hemispinal cord syndrome - See Brown-Sequard syndrome
*   Hemochromatosis
*   Hemochromatosis classic - See Hemochromatosis type 1
* Hemochromatosis due to defect in ferroportin - See Hemochromatosis type 4
* Hemochromatosis due to defect in transferrin receptor 2 - See Hemochromatosis type 3
* Hemochromatosis juvenile - See Hemochromatosis type 2
* Hemochromatosis neonatal - See Neonatal hemochromatosis
*   Hemochromatosis type 1
* Hemochromatosis type 2
* Hemochromatosis type 3
* Hemochromatosis type 4
* Hemochromatosis, autosomal dominant - See Hemochromatosis type 4
* Hemoglobin C disease
* Hemoglobin E disease
* Hemoglobin S Disease - See Sickle cell anemia
* Hemoglobin SC disease
*   Hemoglobin SE disease
* Hemoglobin sickle-beta thalassemia - See Sickle beta thalassemia
* Hemoglobin Zurich
* Hemoglobinemia
*   Hemoglobinopathy
* Hemoglobinuria paroxysmal cold - See Paroxysmal cold hemoglobinuria
* Hemolysis, Elevated Liver Enzymes, Lowered Platelets - See HELLP syndrome
* Hemolytic anemia due to G6PD deficiency - See Glucose-6-phosphate dehydrogenase deficiency
* Hemolytic anemia due to red cell pyruvate kinase deficiency - See Pyruvate kinase deficiency
* Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities
* Hemolytic uremic syndrome
* Hemolytic uremic syndrome, atypical, childhood
* Hemolytic-uremic syndrome without diarrhea - See Atypical hemolytic uremic syndrome
* Hemophagocytic lymphohistiocytosis
* Hemophagocytic lymphohistiocytosis, familial, 2
* Hemophagocytic lymphohistiocytosis, familial, 3
* Hemophagocytic lymphohistiocytosis, familial, 4
* Hemophagocytic reticulitis - See Hemophagocytic reticulosis
* Hemophagocytic reticulosis
* Hemophilia - See Hemophilia B
* Hemophilia
* Hemophilia A
* Hemophilia A, acquired
* Hemophilia A, congenital - See Hemophilia A
* Hemophilia B
* Hemophilia, acquired - See Acquired hemophilia
* Hemophilia, classic - See Hemophilia A
* Hemophilic arthropathy
* Hemophilus influenzae - See Haemophilus influenzae
* Hemorrhagic dengue - See Dengue fever
* Hemorrhagic familial nephritis - See Alport syndrome
* Hemorrhagic fever
* Hemorrhagic hereditary nephritis - See Alport syndrome
* Hemorrhagic jaundice - See Leptospirosis
* Hemorrhagic proctocolitis
* Hemorrhagic shock and encephalopathy syndrome
* Hemorrhagic shock and encephalopathy syndrome - See Hemorrhagic shock and encephalopathy syndrome
* Hemorrhagic thrombocythemia - See Essential thrombocythemia
* Hemorrhagiparous thrombocytic dystrophy - See Giant platelet syndrome
* Hemosiderosis
* Hemosiderosis, pulmonary, with deficiency of gamma-a globulin - See Idiopathic pulmonary hemosiderosis
* HEMPAS anemia - See Congenital dyserythropoietic anemia type 2
*   Hench-Rosenberg syndrome - See Palindromic rheumatism
*   Hench's syndrome - See Palindromic rheumatism
* Henneguya salminicola - See Myxozoa
* Hennekam Beemer syndrome - See Mastocytosis cutaneous with short stature conductive hearing loss and microtia
* Hennekam Koss de Geest syndrome - See Short stature contractures hypotonia
* Hennekam lymphangiectasia lymphedema syndrome - See Hennekam syndrome
* Hennekam syndrome
* Hennekam Van der Horst syndrome
* Hennekam-Beemer syndrome - See Mastocytosis cutaneous with short stature conductive hearing loss and microtia
* Henoch Schonlein purpura - See Henoch-Schonlein purpura
* Henoch-Schonlein purpura
* Henoch-Schönlein purpura - See Henoch-Schonlein purpura
* HEP - See Hepatoerythropoietic porphyria
* Hepadnavirus infection
* Heparan sulfamidase deficiency - See Mucopolysaccharidosis type IIIA
* Heparan sulfate sulfatase deficiency - See Mucopolysaccharidosis type IIIA
* Heparane sulfamidase deficiency
* Heparin-associated thrombocytopenia - See Heparin-induced thrombocytopenia
* Heparin-induced thrombocytopenia - See Heparin-induced thrombocytopenia
* Heparin-induced thrombocytopenia
* Heparin-induced thrombocytopenia type 2 - See Heparin-induced thrombocytopenia
* Hepatic AGT deficiency - See Primary hyperoxaluria type 1
* Hepatic carnitine palmitoyl transferase 1 deficiency - See Carnitine palmitoyltransferase I deficiency , muscle
* Hepatic carnitine palmitoyl transferase I deficiency - See Carnitine palmitoyltransferase I deficiency , muscle
* Hepatic carnitine palmitoyltransferase 1 deficiency - See Carnitine palmitoyl transferase 1 deficiency
* Hepatic CPT1 - See Carnitine palmitoyl transferase 1 deficiency
* Hepatic cystic hamartoma
* Hepatic ductular hypoplasia - See Alagille syndrome
* Hepatic encephalopathy
* Hepatic fibrosis renal cysts mental retardation
*   Hepatic fructokinase deficiency - See Fructosuria
* Hepatic glycogen synthase deficiency - See Glycogen storage disease type 0
* Hepatic glycogenosis with amino aciduria and glucosuria - See Fanconi Bickel syndrome
* Hepatic phosphorylase kinase deficiency - See Glycogen storage disease 8
* Hepatic vein obstruction - See Budd-Chiari syndrome
* Hepatic veno-occlusive disease - See Budd-Chiari syndrome
* Hepatic veno-occlusive disease - immunodeficiency - See Hepatic venoocclusive disease with immunodeficiency
* Hepatic venoocclusive disease with immunodeficiency
* Hepatitis E
* Hepatitis X - See Non-A-E hepatitis
* Hepatoblastoma
* Hepatocarcinoma - See Liver cancer
* Hepatocellular cancer - See Liver cancer
* Hepatocellular carcinoma (fibrolamellar variant) - See Fibrolamellar hepatocellular carcinoma
* Hepatocellular carcinoma with increased stromal fibrosis - See Fibrolamellar hepatocellular carcinoma
* Hepatocellular carcinoma, adult - See Liver cancer
* Hepatocellular carcinoma, childhood
* Hepatoencephalopathy - See Hepatic encephalopathy
* Hepatoerythropoietic porphyria
* Hepatofacioneurocardiovertebral syndrome - See Alagille syndrome
* Hepatolenticular degeneration - See Wilson disease
* Hepatoma - See Liver cancer
* Hepatorenal form of glycogen storage disease - See Glycogen storage disease type 1A
* Hepatorenal glycogenosis - See Glycogen storage disease type 1A
* Hepatorenal glycogenosis with renal fanconi syndrome - See Fanconi Bickel syndrome
* Hepatorenal glycogenosis with renal Fanconi syndrome - See Fanconi Bickel syndrome
* Hepatorenal syndrome
* Hepatorenal tyrosinemia - See Tyrosinemia type 1
* HEPOD - See Polyostotic osteolytic dysplasia, hereditary expansile
* Heptacarpo-octatarso-dactyly combined with multiple malformation - See Tollner Horst Manzke syndrome
* Herditary sensory and motor neuropathy type 4 - See Refsum disease
* Hereditary hypotrichosis simplex - See Hypotrichosis simplex
* Hereditary absence of proximal interphalangeal joints - See Cushing's symphalangism
* Hereditary acrokeratotic poikiloderma, Weary type - See Kindler syndrome
* Hereditary amyloid nephropathy - See Amyloidosis familial visceral
* Hereditary amyloidosis
* Hereditary amyloidosis, Finnish type - See Familial amyloidosis, Finnish type
* Hereditary angioedema
* Hereditary angioedema type 1 - See Hereditary angioedema
* Hereditary angioedema type 2 - See Hereditary angioedema
* Hereditary angioneurotic edema - See Hereditary angioedema
* Hereditary angioneurotic edema type 2 - See Hereditary angioedema
* Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
* Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome - See Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
* Hereditary areflexic dystasia - See Roussy Levy syndrome
* Hereditary areflexic dystasia, Roussy-Lévy type - See Roussy Levy syndrome
* Hereditary articular chondrocalcinosis - See Chondrocalcinosis 2
* Hereditary ataxia
* Hereditary benign chorea - See Benign hereditary chorea
* Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna - See Ulna metaphyseal dysplasia syndrome
* Hereditary brachial plexus neuropathy - See Hereditary neuralgic amyotrophy
* Hereditary bradykinine-induced angioedema - See Hereditary angioedema
* Hereditary brain cavernous angioma - See Cerebral cavernous malformation
* Hereditary brain cavernous hemangioma - See Cerebral cavernous malformation
* Hereditary branchial arch defects - See Aksu von Stockhausen syndrome
* Hereditary bundle branch defect - See Progressive familial heart block type 2
* Hereditary bundle branch defect - See Familial progressive cardiac conduction defect
* Hereditary calcium pyrophosphate deposition - See Chondrocalcinosis 2
* Hereditary CC - See Chondrocalcinosis 2
* Hereditary cerebellar ataxia syndrome of early onset
* Hereditary cerebral cavernoma - See Cerebral cavernous malformation
* Hereditary cerebral cavernous malformation - See Cerebral cavernous malformation
* Hereditary cerebral hemorrhage with amyloidosis
* Hereditary cerebral hemorrhage with amyloidosis, Dutch type (subtype) - See Hereditary cerebral hemorrhage with amyloidosis
* Hereditary cerebral hemorrhage with amyloidosis, Icelandic type (subtype) - See Hereditary cerebral hemorrhage with amyloidosis
* Hereditary ceruloplasmin deficiency - See Aceruloplasminemia
* Hereditary chin myoclonus - See Geniospasm
* Hereditary chin tremor/myoclonus - See Geniospasm
* Hereditary chin-trembling - See Geniospasm
* Hereditary congenital facial paresis
* Hereditary congenital hypopigmented and hyperpigmented macules - See Macules hereditary congenital hypopigmented and hyperpigmented
* Hereditary coproporphyria
* Hereditary coproporphyria porphyria - See Hereditary coproporphyria
* Hereditary crystalline stromal dystrophy of Schnyder - See Corneal dystrophy crystalline of Schnyder
* Hereditary cutis marmorata telangiectatica congenita - See Cutis marmorata telangiectatica congenita
* Hereditary diffuse gastric cancer
* Hereditary diffuse leukoencephalopathy with axonal spheroids - See Hereditary diffuse leukoencephalopathy with spheroids
* Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia - See Hereditary diffuse leukoencephalopathy with spheroids
* Hereditary diffuse leukoencephalopathy with spheroids
* Hereditary dystopic lipidosis - See Fabry disease
* Hereditary elliptocytosis
* Hereditary endotheliopathy - retinopathy - nephropathy - stroke - See Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
* Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
* Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) - See Congenital dyserythropoietic anemia type 2
* Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test - See Congenital dyserythropoietic anemia type 2
* Hereditary essential myoclonus - See Dystonia 11
*   Hereditary essential tremor - See Essential tremor
* Hereditary expansile polyostotic osteolytic dysplasia - See Polyostotic osteolytic dysplasia, hereditary expansile
* Hereditary ferritinopathy - See Neuroferritinopathy
* Hereditary fructose intolerance
* Hereditary fructose-1-phosphate aldolase deficiency - See Hereditary fructose intolerance
* Hereditary fructosemia - See Hereditary fructose intolerance
* Hereditary galactokinase deficiency - See Galactokinase deficiency
* Hereditary gelsolin amyloidosis - See Familial amyloidosis, Finnish type
* Hereditary geniospasm - See Geniospasm
* Hereditary gingival fibromatosis with hypertrichosis - See Gingival fibromatosis with hypertrichosis
* Hereditary gingival fibromatosis, 1 - See Gingival fibromatosis, 1
* Hereditary gingival fibromatosis, 2 - See Gingival fibromatosis, 2
* Hereditary gingival fibromatosis, 3 - See Gingival fibromatosis, 3
* Hereditary gingival fibromatosis, 4 - See Gingival fibromatosis, 4
* Hereditary hemorrhagic telangiectasia - See Hereditary hemorrhagic telangiectasia type 4
* Hereditary hemorrhagic telangiectasia
* Hereditary hemorrhagic telangiectasia type 1 - See Hereditary hemorrhagic telangiectasia
* Hereditary hemorrhagic telangiectasia type 2
* Hereditary hemorrhagic telangiectasia type 3
* Hereditary hemorrhagic telangiectasia type 4
* Hereditary hollow visceral myopathy - See Megaduodenum and/or megacystis
* Hereditary hypercholanemia - See Hypohidrotic ectodermal dysplasia
* Hereditary hyperekplexia
* Hereditary hyperexplexia - See Hereditary hyperekplexia
* Hereditary hyperferritinemia cataract syndrome - See Hyperferritinemia cataract syndrome
* 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 hyperphosphatasia - See Osteoectasia familial
* Hereditary hyperuricemia
* Hereditary hypotrichosis simplex - See Hypotrichosis simplex
* Hereditary inclusion body myopathy - See Inclusion body myopathy 2
* Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia - See Inclusion body myopathy 3
* Hereditary inclusion body myopathy type 2 - See Inclusion body myopathy 2
* Hereditary inclusion body myopathy type 3 - See Inclusion body myopathy 3
* Hereditary iron overload and African Americans - See Bantu siderosis
* Hereditary iron-loading anemia - See X-linked sideroblastic anemia
* Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency - See Intrinsic factor deficiency
* Hereditary keratitis - See Keratitis, hereditary
* Hereditary keratoacanthoma - See Muir-Torre syndrome
* Hereditary koilonychia
* Hereditary leiomyomatosis - See Hereditary leiomyomatosis and renal cell cancer
* Hereditary leiomyomatosis and renal cell cancer
* Hereditary leiomyomatosis with renal carcinoma - See Hereditary leiomyomatosis and renal cell cancer
* Hereditary lymphedema - See Milroy disease
* Hereditary lymphedema 1 - See Milroy disease
* Hereditary lymphedema type I - See Milroy disease
* Hereditary lymphedema type II
* Hereditary lymphedema-distichiasis syndrome (subtype) - See Lymphedema-distichiasis syndrome
* Hereditary macular coloboma (subtype) - See Coloboma of macula
* Hereditary methemoglobinemia, recessive
* Hereditary microcornea, glaucoma, and absent frontal sinuses - See Microcornea, glaucoma, and absent frontal sinuses
* Hereditary motor and sensory neuropathy - See Charcot-Marie-Tooth disease
* Hereditary motor and sensory neuropathy 1A - See Charcot-Marie-Tooth disease type 1A
* Hereditary motor and sensory neuropathy 1B - See Charcot-Marie-Tooth disease type 1B
* Hereditary motor and sensory neuropathy 1D - See Charcot-Marie-Tooth disease type 1D
* Hereditary motor and sensory neuropathy 2 A - See Charcot-Marie-Tooth disease type 2A
* Hereditary motor and sensory neuropathy 2 B (HMSN 2 B) - See Charcot-Marie-Tooth disease type 2B
* Hereditary motor and sensory neuropathy 2 C - See Charcot-Marie-Tooth disease type 2C
* Hereditary motor and sensory neuropathy 3 - See Hypertrophic neuropathy of Dejerine-Sottas
* Hereditary motor and sensory neuropathy 5 - See Hereditary motor and sensory neuropathy type 5
* Hereditary motor and sensory neuropathy type 1 - See Charcot-Marie-Tooth disease type 1
* Hereditary motor and sensory neuropathy type 2 - See Charcot-Marie-Tooth disease type 2
* Hereditary motor and sensory neuropathy type 3 - See Hypertrophic neuropathy of Dejerine-Sottas
* Hereditary motor and sensory neuropathy type 4 - See Refsum disease
* Hereditary motor and sensory neuropathy type 5 - See Hereditary motor and sensory neuropathy type 5
* Hereditary motor and sensory neuropathy type 5
* Hereditary motor and sensory neuropathy with agenesis of the corpus callosum - See Andermann syndrome
* Hereditary motor and sensory neuropathy, LOM type - See Charcot-Marie-Tooth disease type 4D
* Hereditary motor and sensory neuropathy, Okinawa type - See Neuropathy, hereditary motor and sensory, Okinawa type
* HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE - See Neuropathy, hereditary motor and sensory, Okinawa type
* Hereditary motor and sensory neuropathy, Russe type - See Neuropathy, hereditary motor and sensory, Russe type
* Hereditary motor and sensory neuropathy, X-linked - See X-linked Charcot-Marie-Tooth disease type 1
* Hereditary motor neuropathy, Jerash type - See Neuropathy, distal hereditary motor, Jerash type
* Hereditary Motor Sensory Neuropathy I - See Roussy Levy syndrome
* Hereditary mucoepithelial dysplasia
* Hereditary mucosal leukokeratosis - See White sponge nevus of cannon
* Hereditary multi-infarct dementia - See CADASIL
* Hereditary multiple benign cystic epithelioma - See Multiple familial trichoepithelioma
* Hereditary multiple cutaneous leiomyomas - See Hereditary leiomyomatosis and renal cell cancer
* Hereditary multiple diaphyseal sclerosis - See Ribbing disease
* Hereditary multiple exostoses - See Hereditary multiple osteochondromas
* Hereditary multiple exostosis - See Hereditary multiple osteochondromas
* Hereditary multiple osteochondromas
* Hereditary multiple trichodiscomas - See Familial multiple trichodiscomas
* Hereditary myoclonus - progressive distal muscular atrophy - See Myoclonus hereditary progressive distal muscular atrophy
* Hereditary myoclonus and progressive distal muscular atrophy - See Jankovic Rivera syndrome
* Hereditary myopathy with intranuclear filamentous
* Hereditary neuralgic amyotrophy
* Hereditary neurocutaneous Angioma - See Angioma hereditary neurocutaneous
* Hereditary neuropathy with liability to pressure palsies - See Hereditary neuropathy with liability to pressure palsy
* Hereditary neuropathy with liability to pressure palsy
* Hereditary nodular heterotopia
* Hereditary non histamine-induced angioedema - See Hereditary angioedema
* Hereditary nonpolyposis colon cancer - See Lynch syndrome
* Hereditary nonpolyposis colorectal cancer - See Lynch syndrome
* Hereditary ochronosis - See Alkaptonuria
* Hereditary orotic aciduria - See Orotic aciduria type 1
* Hereditary orotic aciduria without megaloblastic anaemia
* Hereditary palmoplantar keratoderma with deafness (subtype) - See Keratoderma palmoplantar deafness
* Hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease - See Yorifuji Okuno syndrome
* Hereditary pancreatitis
* Hereditary papillary renal cell carcinoma - See Papillary renal cell carcinoma
* Hereditary paraganglioma-pheochromocytoma
* Hereditary Parkinson disease with late-onset - See Insulin autoimmune syndrome
* Hereditary peripheral nervous disorder
* Hereditary pheochromocytoma-paraganglioma - See Pheochromocytoma
* Hereditary pheochromocytoma-paraganglioma - See Hereditary paraganglioma-pheochromocytoma
* Hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction - See Herrmann syndrome
* Hereditary polyposis coli - See Familial adenomatous polyposis
* Hereditary primary Fanconi disease
* Hereditary progressive arthroophthalmopathy - See Stickler syndrome
* Hereditary progressive dystonia with diurnal fluctuation - See Dystonia 5, Dopa-responsive type
* Hereditary progressive dystonia with marked diurnal fluctuation - See Dystonia 5, Dopa-responsive type
* Hereditary prostate cancer - See Familial prostate cancer
* Hereditary pubertal genu valgum - See Genu valgum, st Helena familial
* Hereditary pulmonary arterial hypertension - See Pulmonary arterial hypertension
* Hereditary Pyropoikilocytosis - See Pyropoikilocytosis hereditary
* Hereditary renal agenesis - See Urogenital adysplasia, hereditary
* Hereditary renal amyloidosis - See Amyloidosis familial visceral
* Hereditary renal disease and preauricular pits - See Lachiewicz Sibley syndrome
* Hereditary renal hypouricemia - See Renal hypouricemia
*   Hereditary resistance to activated protein C - See Factor V Leiden thrombophilia
* Hereditary resistance to anti-vitamin K
* Hereditary sensorimotor neuropathy with hyperelastic skin
* Hereditary sensory and autonomic neuropathy 3 - See Familial dysautonomia
* Hereditary sensory and autonomic neuropathy 4 - See Congenital insensitivity to pain with anhidrosis
* Hereditary sensory and autonomic neuropathy type 1 - See Hereditary sensory neuropathy type 1
* Hereditary sensory and autonomic neuropathy type 1 - See Hereditary sensory neuropathy type IE
* Hereditary sensory and autonomic neuropathy type 2
* Hereditary sensory and autonomic neuropathy type 3 - See Familial dysautonomia
* Hereditary sensory and autonomic neuropathy type 4 - See Congenital insensitivity to pain with anhidrosis
* Hereditary sensory and autonomic neuropathy type IE - See Hereditary sensory neuropathy type IE
* Hereditary sensory neuropathy type 1
* Hereditary sensory neuropathy type 2 - See Hereditary sensory and autonomic neuropathy type 2
* Hereditary sensory neuropathy type 3 - See Familial dysautonomia
* Hereditary sensory neuropathy type IE
* Hereditary sensory neuropathy with hearing loss and dementia - See Hereditary sensory neuropathy type IE
* Hereditary sensory radicular neuropathy, recessive form - See Hereditary sensory and autonomic neuropathy type 2
* Hereditary spastic diplegia with mental retardation - See Spastic diplegia infantile type
* Hereditary spastic paraparesis - See Spastic paraplegia 9
* Hereditary spastic paraparesis type 15 - See Spastic paraplegia 15
* Hereditary spastic paraplegia
* Hereditary spastic paraplegia - See Spastic paraplegia 9
* Hereditary spastic paraplegia 11 - See Spastic paraplegia 11
* Hereditary spastic paraplegia mental impairment and thin corpus callosum - See Spastic paraplegia 11
* Hereditary spastic paraplegia Paraplegin type - See Spastic paraplegia 7
* Hereditary spherocytosis
* Hereditary spinal ataxia - See Friedreich ataxia
* Hereditary spinal sclerosis - See Friedreich ataxia
* Hereditary symmetrical aplastic nevi of temples - See Focal facial dermal dysplasia
* Hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples - See Scalp ear nipple syndrome
*   Hereditary thrombophilia due to congenital protein C deficiency - See Protein C deficiency
*   Hereditary thrombophilia due to PC deficiency - See Protein C deficiency
*   Hereditary thrombophilia due to protein C deficiency - See Protein C deficiency
* Hereditary thymine-uraciluria - See Dihydropyrimidine dehydrogenase deficiency
* Hereditary thyroglossal duct cysts - See Thyroglossal tract cyst
* Hereditary type 1 neuropathy
* Hereditary type 2 neuropathy
* Hereditary ulnar drift - See Sallis Beighton syndrome
* Hereditary unconjugated hyperbilirubinemia - See Crigler Najjar syndrome, type 1
* Hereditary unconjugated hyperbilirubinemia type 1 - See Crigler Najjar syndrome, type 1
* Hereditary unconjugated hyperbilirubinemia type 2 - See Crigler Najjar syndrome, type 2
* Hereditary vascular retinopathy
* Hereditary vascular retinopathy - Raynaud phenomenon - migraine - See Hereditary vascular retinopathy
* Hereditary ventricular hypertrophy - See Familial hypertrophic cardiomyopathy
* Hereditary vertical nystagmus - See Nystagmus, hereditary vertical
* Hereditary whispering dysphonia - See Dystonia 4, torsion, autosomal dominant type
* Hereditary whispering dysphonia - See Whispering dysphonia, hereditary
* Hereditary white nails - See Leukonychia totalis
* Hereditary woolly hair (autosomal dominant) - See Woolly hair syndrome
* Hereditary woolly hair syndrome - See Woolly hair syndrome
* Hereditary wooly hair syndrome - See Woolly hair syndrome
* Hereditary xerocytosis - See Dehydrated hereditary stomatocytosis
* Heredopathia atactica polyneuritiformis - See Refsum disease
* Heredopathia ophthalmootoencephalica - See Dementia, familial Danish
*   Heritable breast cancer - See Familial breast cancer
* Heritable pulmonary arterial hypertension - See Pulmonary arterial hypertension
* Herlitz-Pearson type epidermolysis bullosa - See Junctional epidermolysis bullosa, Herlitz type
* Hermansky Pudlak syndrome - See Hermansky-Pudlak syndrome
* Hermansky Pudlak syndrome 2
* Hermansky-Pudlak syndrome
* Hermansky-Pudlak syndrome 2 - See Hermansky Pudlak syndrome 2
* Hermansky-Pudlak syndrome type 2 - See Hermansky Pudlak syndrome 2
* Hermansky-Pudlak syndrome with neutropenia - See Hermansky Pudlak syndrome 2
* Hernández-Fragoso syndrome - See Osteoporosis oculocutaneous hypopigmentation syndrome
* Hernia uteri inguinale - See Persistent Mullerian duct syndrome
* HERNS - See Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
* HERNS syndrome - See Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
* Herpes gestationis - See Pemphigoid gestationis
* Herpes iris, erythema multiforme type - See Erythema multiforme
* Herpes simiae (B virus)
* Herpes simplex encephalitis
* Herpes virus antenatal infection
* Herpes zoster ophthalmicus
* Herpes zoster ophthalmicus (HZO) - See Herpes zoster ophthalmicus
* Herpes zoster oticus
* Herpesvirus simiae B virus
* Herpetic embryopathy
* Herpetic encephalitis - See Herpes simplex encephalitis
* Herrmann Opitz arthrogryposis syndrome
* Herrmann Opitz craniosynostosis
* Herrmann syndrome
* Hers disease - See Glycogen storage disease type 6
* Hersh Podruch Weisskopk syndrome
* Herva disease - See Lethal congenital contracture syndrome 1
* HES - See Hypereosinophilic syndrome
* HES-M - See Mycobacterium Xenopi
* HES-N - See Mycobacterium Xenopi
* Heterochromia iridis
* Heterotaxia - See X-linked visceral heterotaxy 1
* Heterotaxia - See Heterotaxy
* Heterotaxy
* Heterotaxy syndrome - See Heterotaxy
* Heterotaxy syndrome - See X-linked visceral heterotaxy 1
* Heterotaxy, visceral, 1, X-linked - See X-linked visceral heterotaxy 1
* Heterotaxy, visceral, X-linked - See X-linked visceral heterotaxy 1
* Heterotopia familial nodular - See X-linked periventricular heterotopia
* Heterotopia periventricular X-linked dominant - See X-linked periventricular heterotopia
* Heterotopia, periventricular, ED variant - See Ehlers-Danlos syndrome with periventricular heterotopia
* Heterozygous microdeletion 17p11.2p12 - See Hereditary neuropathy with liability to pressure palsy
* Heterozygous OSMED - See Weissenbacher-Zweymuller syndrome
* Heterozygous otospondylomegaepiphyseal dysplasia - See Weissenbacher-Zweymuller syndrome
* HexA deficiency - See Tay-Sachs disease
* Hexokinase deficiency hemolytic anemia - See Nonspherocytic hemolytic anemia due to hexokinase deficiency
* Hexosaminidase A and B deficiency Disease - See Sandhoff disease
* Hexosaminidase A deficiency - See Tay-Sachs disease
* Hexosaminidase alpha-subunit deficiency (variant B) - See Tay-Sachs disease
* Hexosaminidases A and B deficiency - See Sandhoff disease
* HF - See Hydrops fetalis
* HFE3 - See Hemochromatosis type 3
* HFE4 - See Hemochromatosis type 4
* HFG syndrome - See Hand foot uterus syndrome
* HFGS - See Hand foot uterus syndrome
* HFTC - See Hyperphosphatemic familial tumoral calcinosis
* HFU syndrome - See Hand foot uterus syndrome
* HGE - See Human granulocytic ehrlichiosis
* HGF1 - See Gingival fibromatosis, 1
* HGF2 - See Gingival fibromatosis, 2
* HGF3 - See Gingival fibromatosis, 3
* HGF4 - See Gingival fibromatosis, 4
* HGPS - See Progeria
* HHC1 - See Familial hypocalciuric hypercalcemia type 1
* HHC2 - See Familial hypocalciuric hypercalcemia type 2
* HHC3 - See Familial hypocalciuric hypercalcemia type 3
* HHCS - See Hyperferritinemia cataract syndrome
* HHF2 - See Hyperinsulinemic hypoglycemia familial 2
* HHF3 - See Hyperinsulinemic hypoglycemia familial 3
* HHF7 - See Exercise-induced hyperinsulinemic hypoglycemia
* HHH - See Ornithine translocase deficiency syndrome
* HHH syndrome - See Ornithine translocase deficiency syndrome
* HHHS - See Ornithine translocase deficiency syndrome
* HHML - See Xeroderma pigmentosum type 7
* HHRH - See Hypophosphatasia childhood
* HHS - See Hyperostosis-hyperphosphatemia syndrome
* HHS - See Hypotrichosis simplex
* HHT - See Hereditary hemorrhagic telangiectasia
* HHT - See Hereditary hemorrhagic telangiectasia type 4
* HHT1 - See Hereditary hemorrhagic telangiectasia
* HHT2 - See Hereditary hemorrhagic telangiectasia type 2
* HHT3 - See Hereditary hemorrhagic telangiectasia type 3
* HHT4 - See Hereditary hemorrhagic telangiectasia type 4
* HHV-6 encephalitis
* HHV8 - See Classic Kaposi sarcoma
* HI - See Harlequin ichthyosis
* HI syndrome - See Hypomelanosis of Ito
* HI/HA syndrome - See Hyperinsulinism-hyperammonemia syndrome
* Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type - See Microcephaly, hiatal hernia and nephrotic syndrome
* Hibernian fever, familial - See Periodic fever, familial, autosomal dominant
* HIBM - See Inclusion body myopathy 2
* HIBM2 - See Inclusion body myopathy 2
* HIBM3 - See Inclusion body myopathy 3
* Hiccups, intractable - See Chronic hiccups
*   Hidradenitis suppurativa
* Hidradenocarcinoma
* Hidrotic ectodermal dysplasia - See Ectodermal dysplasia 2, hidrotic
* Hidrotic ectodermal dysplasia Halal type - See Halal Setton Wang syndrome
* Hidrotic ectodermal dysplasia, autosomal dominant - See Ectodermal dysplasia 2, hidrotic
* Hidrotic ectodermal dysplasia, Christianson-Fourie type - See Ectodermal dysplasia, hidrotic, Christianson-Fourie type
* Hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers - See Congenital ectodermal dysplasia with hearing loss
* HIDS - See Hyper-IgD syndrome
* HIES - See Hyper IgE syndrome
* HIES autosomal dominant - See Autosomal dominant hyper IgE syndrome
* HIES autosomal recessive - See Autosomal recessive hyper IgE syndrome
* High altitude cerebral edema - See Acute mountain sickness
* High altitude pulmonary edema - See Acute mountain sickness
* High altitude pulmonary hypertension - See Pulmonary edema of mountaineers
* High density lipoprotein deficiency - See Familial HDL deficiency
* High density lipoprotein deficiency, Tangier type - See Tangier disease
* High density lipoprotein deficiency, type 1 - See Tangier disease
* High molecular weight kininogen deficiency
* High myopia-sensorineural deafness syndrome - See Familial adenomatous polyposis
* High nasal bridge, cataract and cleft palate - See Johnson Hall Krous syndrome
* High red cell phosphatidylcholine hemolytic anemia - See Red cell phospholipid defect with hemolysis
* High scapula - See Sprengel deformity
*   High serum cholesterol, familial - See Hypercholesterolemia, autosomal dominant
* High-grade astrocytoma - See Anaplastic astrocytoma
* High-grade pleomorphic peripheral T-cell lymphoma - See Enteropathy-associated T-cell lymphoma
* Highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses - See Sinonasal undifferentiated carcinoma
* High-molecular-weight kininogen deficiency, congenital - See High molecular weight kininogen deficiency
* HIGM - See Immunodeficiency with hyper IgM type 1
* HIGM1 - See Immunodeficiency with hyper IgM type 1
* HIGM2 - See Immunodeficiency with hyper IgM type 2
* HIGM3 - See Immunodeficiency with hyper IgM type 3
* HIGM4 - See Immunodeficiency with hyper IgM type 4
* HIGM5 - See Immunodeficiency with hyper IgM type 5
* Hilar CCA - See Klatskin tumor
* Hilar cholangiocarcinoma - See Klatskin tumor
* Hillig syndrome
* Hing Torack Dowston syndrome
* Hinson-Pepys disease - See Allergic bronchopulmonary aspergillosis
* Hip dysplasia - enchondromata - ecchondroma - See Upington disease
* Hip dysplasia Beukes type - See Beukes familial hip dysplasia
* Hip dysplasia, Beukes type - See Beukes familial hip dysplasia
* Hip luxation
* Hip socket neuropathy - See Piriformis syndrome
* Hip subluxation
* Hipo syndrome - See Hemihypertrophy intestinal web corneal opacity
* Hirata disease - See Insulin autoimmune syndrome
* Hirayama disease - See Monomelic amyotrophy
* Hirschsprung disease - See Hirschsprung's disease
* Hirschsprung disease - intellectual disability - See Mowat-Wilson syndrome
* Hirschsprung disease - nail hypoplasia - dysmorphism - See Al-Gazali-Donnai-Mueller syndrome
* Hirschsprung disease - type D brachydactyly - See Hirschsprung disease type d brachydactyly
* Hirschsprung disease 1 - See Hirschsprung's disease
* Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness - See Santos Mateus Leal syndrome
* Hirschsprung disease ganglioneuroblastoma
* Hirschsprung disease mental retardation syndrome - See Mowat-Wilson syndrome
* Hirschsprung disease modifier - See Hirschsprung disease type 3
* Hirschsprung disease polydactyly heart disease
* Hirschsprung disease type 1 - See Hirschsprung's disease
* Hirschsprung disease type 2
* Hirschsprung disease type 3
* Hirschsprung disease type d brachydactyly
* Hirschsprung disease with pigmentary anomaly - See Waardenburg syndrome type 4
* Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect - See Hirschsprung disease polydactyly heart disease
* Hirschsprung disease, deafness and polydactyly - See Santos Mateus Leal syndrome
* Hirschsprung microcephaly cleft palate
* Hirschsprung nail hypoplasia dysmorphism
* Hirschsprung's disease
* Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly - See Laurence Prosser Rocker syndrome
* Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect - See Laurence Prosser Rocker syndrome
* Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features - See Al-Gazali-Donnai-Mueller syndrome
* Hirsutism skeletal dysplasia mental retardation
* Hirsutism skeletal dysplasia mental retardation syndrome - See Wiedemann Oldigs Oppermann syndrome
* Hirsutism-congenital gingival hyperplasia syndrome - See Gingival fibromatosis with hypertrichosis
* His bundle tachycardia
* HIS deficiency - See Histidinemia
* Histidase deficiency - See Histidinemia
* Histidine ammonia-lyase deficiency - See Histidinemia
* Histidinemia
* Histidinuria - See Histidinemia
* Histidinuria renal tubular defect
* Histiocytic necrotising lymphadenitis - See Kikuchi disease
* Histiocytic necrotizing lymphadenitis - See Kikuchi disease
* Histiocytoid cardiomyopathy - See Infantile histiocytoid cardiomyopathy
* Histiocytosis with joint contractures and sensorineural deafness
* Histiocytosis X - See Langerhans cell histiocytosis
* Histiocytosis, Non-Langerhans-Cell
* Histiocytosis, sea-blue - See Sea-Blue histiocytosis
* Histiocytosis-lymphadenopathy plus syndrome - See Histiocytosis with joint contractures and sensorineural deafness
* HIT - See Heparin-induced thrombocytopenia
* Hittner Hirsch Kreh syndrome
* HJCD - See Histiocytosis with joint contractures and sensorineural deafness
* HJMD - See Juvenile macular degeneration and hypotrichosis
* HL deficiency - See HMG CoA lyase deficiency
* HLA class 1 deficiency - See Bare lymphocyte syndrome
* HLA class 2-negative severe combined immunodeficiency - See Bare lymphocyte syndrome 2
* HLD5 - See Hypomyelination and congenital cataract
* HLD6 - See Hypomyelination with atrophy of basal ganglia and cerebellum
* HLH - See Hemophagocytic lymphohistiocytosis
* HLH2 - See Hemophagocytic lymphohistiocytosis, familial, 2
* HLH3 - See Hemophagocytic lymphohistiocytosis, familial, 3
* HLH4 - See Hemophagocytic lymphohistiocytosis, familial, 4
* HLHS - See Hypoplastic left heart syndrome
* HLP - See Hyperkeratosis lenticularis perstans
* HLP type 3 - See Hyperlipidemia type 3
* HLRCC - See Hereditary leiomyomatosis and renal cell cancer
* HLS - See Hydrolethalus syndrome
* Hm syndrome
* HMBS deficiency - See Acute intermittent porphyria
* HMC syndrome - See Bixler Christian Gorlin syndrome
* HMCS - See McKusick Kaufman syndrome
* HME - See Human monocytic ehrlichiosis
* HMG CoA lyase deficiency
* HMG CoA synthetase deficiency
* HMG-CoA lyase deficiency - See HMG CoA lyase deficiency
* HMN VI - See Spinal muscular atrophy with respiratory distress 1
* HMN6 - See Spinal muscular atrophy with respiratory distress 1
* HMNJ - See Neuropathy, distal hereditary motor, Jerash type
* HMO - See Hereditary multiple osteochondromas
* HMS - See Haim-Munk syndrome
* HMSN - See Charcot-Marie-Tooth disease
* HMSN 1A - See Charcot-Marie-Tooth disease type 1A
* HMSN 1B - See Charcot-Marie-Tooth disease type 1B
* HMSN 1D - See Charcot-Marie-Tooth disease type 1D
* HMSN 2 C - See Charcot-Marie-Tooth disease type 2C
* HMSN 3 - See Hypertrophic neuropathy of Dejerine-Sottas
* HMSN 4 - See Refsum disease
* HMSN 5 - See Hereditary motor and sensory neuropathy type 5
* HMSN I - See Roussy Levy syndrome
* HMSN IIA - See Charcot-Marie-Tooth disease type 2A
* HMSN, Lom type - See Charcot-Marie-Tooth disease type 4D
* HMSN, X-linked - See X-linked Charcot-Marie-Tooth disease type 1
* HMSN/ACC - See Andermann syndrome
* HMSN3 - See Hypertrophic neuropathy of Dejerine-Sottas
* HMSNL - See Charcot-Marie-Tooth disease type 4D
* HMSN-Lom - See Charcot-Marie-Tooth disease type 4D
* HMSNO - See Neuropathy, hereditary motor and sensory, Okinawa type
* HMSNP - See Neuropathy, hereditary motor and sensory, Okinawa type
* HMSNR - See Neuropathy, hereditary motor and sensory, Russe type
* HMWK - See High molecular weight kininogen deficiency
* HND - See Hartnup disease
* HNF1B-MODY - See Maturity-onset diabetes of the young, type 5
* HNPCC - See Lynch syndrome
* HNPP - See Hereditary neuropathy with liability to pressure palsy
* HNSCC - See Squamous cell carcinoma of the head and neck
* HNT - See Hairy nose tip
* Ho Kaufman Mcalister syndrome
* Hodgkin disease - See Hodgkin lymphoma
* Hodgkin disease, X-linked pseudoautosomal
* Hodgkin lymphoma
* Hodgkin lymphoma, childhood
* Hodgkin lymphoma, during pregnancy
* Hodgkins disease - See Hodgkin lymphoma
* Hodgkins lymphoma - See Hodgkin lymphoma
* Hodgkin's lymphoma - See Hodgkin lymphoma
* Hoepffner dreyer reimers syndrome - See Peptidic growth factors deficiency
* HOGA - See Gyrate atrophy of choroid and retina
* HOKPP - See Hypokalemic periodic paralysis
* Hollow visceral myopathy - See Intestinal pseudo-obstruction
* Holmes Borden syndrome
* Holmes Collins syndrome - See Tibia absent polydactyly arachnoid cyst
* Holmes Gang syndrome - See X-linked mental retardation craniofacial abnormal microcephaly club
* Holmes-Adie syndrome - See Adie syndrome
* Holmes-Collins syndrome - See Tibia absent polydactyly arachnoid cyst
* Holmes-Gang syndrome - See Mental retardation-hypotonic facies syndrome X-linked, 1
* Holmes-Schepens syndrome - See Donnai-Barrow syndrome
* Holoacardius amorphus
* Holocarboxylase synthetase deficiency - See Biotinidase deficiency
* Holocarboxylase synthetase deficiency
* Holoprosencephaly
* Holoprosencephaly - craniosynostosis - See Genoa syndrome
* Holoprosencephaly - postaxial polydactyly - See Pseudotrisomy 13 syndrome
* Holoprosencephaly - radial heart renal anomalies - See Steinfeld syndrome
* Holoprosencephaly caudal dysgenesis
* Holoprosencephaly craniosynostosis - See Genoa syndrome
* Holoprosencephaly ectrodactyly cleft lip palate
* Holoprosencephaly polydactyly syndrome - See Pseudotrisomy 13 syndrome
* Holoprosencephaly radial heart renal anomalies - See Steinfeld syndrome
* Holoprosencephaly with fetal akinesia/hypokinesia sequence - See Morse-Rawnsley-Sargent syndrome
* Holoprosencephaly, recurrent infections, and monocytosis
* Holoprosencephaly-agnathia - See Dysgnathia complex
* Holt-Oram syndrome
* Holzgreve syndrome
* HOMG2 - See Hypomagnesemia 2, renal
* Homocarnosinase deficiency - See Homocarnosinosis
* Homocarnosinosis
* Homocysteinemia
* Homocysteinemia due to methylenetetrahydro-folate reductase deficiency - See Homocystinuria due to MTHFR deficiency
* Homocysteinuria due to methylenetetrahydro-folate reductase deficiency - See Homocystinuria due to MTHFR deficiency
* Homocystinuria
* Homocystinuria due to CBS deficiency
* Homocystinuria due to cystathionine beta-synthase deficiency - See Homocystinuria due to CBS deficiency
* Homocystinuria due to defect in methylation cbl e
* Homocystinuria due to defect in methylation cbl g
* Homocystinuria due to methylene tetrahydrofolate reductase deficiency - See Homocystinuria due to MTHFR deficiency
* Homocystinuria due to MTHFR deficiency
* Homogentisic acid oxidase deficiency - See Alkaptonuria
* Homogentisic acidura - See Alkaptonuria
* Homologous wasting disease
* Homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects - See Alpha-thalassemia-abnormal morphogenesis
* Homozygous familial hypobetalipoproteinemia - See Acanthocytosis
* Honeycomb atrophy - See Atrophodermia vermiculata
* Honeycomb corneal dystrophy - See Corneal dystrophy Thiel Behnke type
* HOOE - See Dementia, familial Danish
* Hooft disease
* Hookworm infection - See Ancylostomiasis
* Hoon Hall syndrome
* Hordnes Engebretsen Knudtson syndrome
* Horn Kolb syndrome
* Horner's syndrome
* Hornova Dlushosova syndrome - See Amyloidosis of gingiva and conjunctiva, with mental retardation
* Hornstein-Knickenberg syndrome - See Birt-Hogg-Dube syndrome
* Horseshoe kidney
* Horton disease - See Giant cell arteritis
* Horton’s disease - See Giant cell arteritis
* Horton’s syndrome - See Giant cell arteritis
* Horton's arteritis - See Giant cell arteritis
* Horton's giant cell arteritis - See Giant cell arteritis
* Horton's temporal arteritis - See Giant cell arteritis
* HOS - See Holt-Oram syndrome
* HOS 1 - See Holt-Oram syndrome
* Houlston Ironton Temple syndrome
* Houston-Harris achondrogenesis - See Achondrogenesis type 1A
* Howel-Evans syndrome - See Tylosis with esophageal cancer
* Hoyeraal Hreidarsson syndrome
* Hoyeraal-Hreidarsson syndrome - See Hoyeraal Hreidarsson syndrome
* Hoyeraal-Hreidarsson syndrome - See Dyskeratosis congenita
* Hozay’s syndrome - See Van Bogaert-Hozay syndrome
* HP - See Familial hypersensitivity pneumonitis
* HP1 - See Primary hyperoxaluria type 1
* HP2 - See Primary hyperoxaluria type 2
* HPAH - See Pulmonary arterial hypertension
* HPCHA - See Red cell phospholipid defect with hemolysis
* HPD with diurnal fluctuation - See Dystonia 5, Dopa-responsive type
* HPD with marked diurnal fluctuation - See Dystonia 5, Dopa-responsive type
* HPE - See Holoprosencephaly
* HPLH2 - See Hemophagocytic lymphohistiocytosis, familial, 2
* HPLH3 - See Hemophagocytic lymphohistiocytosis, familial, 3
* HPLH4 - See Hemophagocytic lymphohistiocytosis, familial, 4
* HPP - See Hypophosphatasia childhood
* HPRCC - See Papillary renal cell carcinoma
* HPRT complete deficiency - See Lesch Nyhan syndrome
* HPRT deficiency - See Hypoxanthine guanine phosphoribosyltransferase deficiency
* HPRT deficiency - See Lesch Nyhan syndrome
* HPRT deficiency grade IV - See Lesch Nyhan syndrome
* HPRT deficiency, complete - See Lesch Nyhan syndrome
* HPRT1 deficiency - See Lesch Nyhan syndrome
* HPRT1 deficiency - See Hypoxanthine guanine phosphoribosyltransferase deficiency
* HPS - See Hantavirus pulmonary syndrome
* HPS - See Hermansky-Pudlak syndrome
* HPS2 - See Hermansky Pudlak syndrome 2
* HPT-JT - See Hyperparathyroidism-jaw tumor syndrome
* HRA - See Urogenital adysplasia, hereditary
* HRD syndrome - See Hypoparathyroidism-retardation-dysmorphism syndrome
* HRPT1 - See Familial isolated hyperparathyroidism
* HRPT2 - See Hyperparathyroidism-jaw tumor syndrome
* HRS - See Ramer Ladda syndrome
* HRZ - See Sclerotylosis
* HSAN 1 - See Hereditary sensory neuropathy type 1
* HSAN 3 - See Familial dysautonomia
* HSAN 4 - See Congenital insensitivity to pain with anhidrosis
* HSAN IE - See Hereditary sensory neuropathy type IE
* HSAN2 - See Hereditary sensory and autonomic neuropathy type 2
* HSAN3 - See Familial dysautonomia
* HSAN4 - See Congenital insensitivity to pain with anhidrosis
* HSAS - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* HSAS1 - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* HSCR - See Hirschsprung's disease
* HSCR 1 - See Hirschsprung's disease
* HSCR3 - See Hirschsprung disease type 3
* HSD 11b1 deficiency - See Cortisone reductase deficiency
* HSD10 deficiency - See 2-methyl-3-hydroxybutyric aciduria
* HSD3B deficiency - See 3-beta-hydroxysteroid dehydrogenase deficiency
* HSES - See Hemorrhagic shock and encephalopathy syndrome
* HSN 3 - See Familial dysautonomia
* HSN1 - See Hereditary sensory neuropathy type 1
* HSNIE - See Hereditary sensory neuropathy type IE
* HSP - See Hereditary spastic paraplegia
* HSP - See Spastic paraplegia 9
* HSRV infection - See Human spumaretrovirus infection
* HSS - See Hallermann-Streiff syndrome
* HTC 1 - See Ambras syndrome
* HTC2 - See Hypertrichosis congenital generalized X-linked
* HT-EDS - See Ehlers-Danlos syndrome hypermobility type
* HTLV-1 - See Human T-cell leukemia virus type 1
* HTLV-1 associated myelopathy/tropical spastic paraparesis
* HTLV-2 - See Human T-cell leukemia virus type 2
* HTLV-3 - See Human T-cell leukemia virus type 3
* HTNB - See Brachydactyly with hypertension
* HTX1 - See X-linked visceral heterotaxy 1
* Hughes syndrome - See Antiphospholipid syndrome
* Human babesiosis - See Babesiosis
* Human balantidiasis - See Balantidiasis
* Human complement C8-beta deficiency - See Complement component 8 deficiency type 2
*   Human cytochrome P450 2D6 - See Cytochrome p450 2D6 variant
* Human ehrlichial infection, human granulocytic type - See Human granulocytic ehrlichiosis
* Human ehrlichial infection, human monocytic type - See Human monocytic ehrlichiosis
* Human Ehrlichial infection, Sennetsu type - See Sennetsu Fever
* Human Ehrlichiosis - See Ehrlichiosis
* Human enterobiasis - See Enterobiasis
* Human granulocytic ehrlichiosis
* Human Herpesvirus 6 encephalitis - See HHV-6 encephalitis
* Human herpesvirus 8 - See Classic Kaposi sarcoma
* Human HOXA1 syndromes - See Athabaskan brainstem dysgenesis
* Human monocytic ehrlichiosis
* Human parainfluenza virus type 3 - See Parainfluenza virus type 3
* Human pythiosis - See Pythiosis
* Human spumaretroviridae infection - See Human spumaretrovirus infection
* Human spumaretrovirus infection
* Human T lymphotropic virus type 1 - See Human T-cell leukemia virus type 1
* Human T lymphotropic virus type 2 - See Human T-cell leukemia virus type 2
* Human T lymphotropic virus type 3 - See Human T-cell leukemia virus type 3
* Human T-cell leukemia virus type 1
* Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis - See HTLV-1 associated myelopathy/tropical spastic paraparesis
* Human T-cell leukemia virus type 2
* Human T-cell leukemia virus type 3
* Human trichinellosis - See Trichinosis
* Humeroperoneal neuromuscular disease, (formerly) - See Emery-Dreifuss muscular dystrophy
* Humeroradial synostosis
* Humero-radial synostosis - See Ramer Ladda syndrome
* Humero-radio-ulnar fusion - See Ramer Ladda syndrome
* Humeroradioulnar synostosis
* Humero-radio-ulnar synostosis - See Ramer Ladda syndrome
* Humerospinal dysostosis - See Kozlowski Celermajer Tink syndrome
* Humero-spinal dysostosis - See Spondyloepiphyseal dysplasia Omani type
* Humero-spinal dysostosis with congenital heart disease - See Kozlowski Celermajer Tink syndrome
*   Hunner's patch - See Interstitial cystitis
*   Hunner's ulcer - See Interstitial cystitis
* Hunt syndrome (formerly) - See Herpes zoster oticus
* Hunter Carpenter Macdonald syndrome
* Hunter Macpherson syndrome
* Hunter Mcdonald syndrome
* Hunter Rudd Hoffmann syndrome
* Hunter syndrome - See Mucopolysaccharidosis type II
* Hunter Thomson Reed syndrome - See Night blindness skeletal anomalies unusual facies
* Hunter-mcalpine craniosynostosis - See Hunter-McAlpine syndrome
* Hunter-mcalpine craniosynostosis syndrome - See Hunter-McAlpine syndrome
* Hunter-McAlpine syndrome
* Hunter-Rudd-Hoffmann syndrome - See Hunter Rudd Hoffmann syndrome
* Huntington chorea - See Huntington disease
* Huntington disease
* Huntington disease, juvenile onset - See Juvenile Huntington disease
* Huntington disease-like 4 - See Spinocerebellar ataxia 17
* Huntington's chorea - See Huntington disease
* Huntington's disease - See Huntington disease
* Hunt's syndrome (formerly) - See Herpes zoster oticus
* Huriez syndrome - See Sclerotylosis
* Hurler syndrome (former subtype) - See Mucopolysaccharidosis type I
* Hurler-Scheie syndrome (former subtype) - See Mucopolysaccharidosis type I
* Hurst Hallam Hockey syndrome
* Hurthle cell carcinoma of the thyroid - See Hurthle cell thyroid cancer
* Hurthle cell thyroid cancer
* HUS - See Hemolytic uremic syndrome
* HUS, atypical - See Atypical hemolytic uremic syndrome
* Hutchinson Gilford progeria syndrome - See Progeria
* Hutchinson Gilford syndrome - See Progeria
* Hutchinson incisors
* Hutchinson-Gilford progeria syndrome - See Progeria
* Hutchison melanotic freckle - See Lentigo maligna melanoma
* Hutterite cerebroosteonephrodysplasia syndrome
* HV - See Hydroa vacciniforme
* HVR - See Hereditary vascular retinopathy
* Hyaline body myopathy - See Osteogenesis imperfecta Levin type
* Hyaline membrane disease - See Respiratory distress syndrome, infant
* Hyalinosis cutis et mucosae - See Lipoid proteinosis of Urbach and Wiethe
* Hyalinosis systemic short stature
* Hyalinosis, systemic juvenile - See Juvenile hyaline fibromatosis
* Hyaloideoretinal degeneration of Wagner - See Wagner syndrome
* Hybrid acute leukemia - See Acute biphenotypic leukemia
* HYCX - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* Hydatid mole - See Hydatidiform mole
* Hydatidiform mole
* Hydatidosis
* Hyde Forster Mccarthy Berry syndrome
* Hyde Forster-McCarthy-Berry syndrome - See Hyde Forster Mccarthy Berry syndrome
* HYDM - See Hydatidiform mole
* Hydranencephaly
* Hydranencephaly and microcephaly - See Microhydranencephaly
* Hydroa vacciniforme
* Hydroa vacciniforme, familial
* Hydroanencephaly - See Hydranencephaly
* Hydrocephalus
* Hydrocephalus - agyria - retinal dysplasia - See Walker-Warburg syndrome
* Hydrocephalus - cardiac malformation - dense bones - See Beemer Ertbruggen syndrome
* Hydrocephalus - cleft palate - joint contractures - See Aase-Smith syndrome
* Hydrocephalus - costovertebral dysplasia - Sprengel anomaly - See Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
* Hydrocephalus - endocardial fibroelastosis - cataract - See HEC syndrome
* Hydrocephalus - obesity - hypogonadism - See Hydrocephalus obesity hypogonadism
* Hydrocephalus autosomal recessive
* Hydrocephalus blue sclera nephropathy - See Daentl Towsend Siegel syndrome
* Hydrocephalus cataract microphthalmos - See Cennamo Gangemi syndrome
* Hydrocephalus cleft palate joint contractures - See Aase-Smith syndrome
* Hydrocephalus craniosynostosis bifid nose
* Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* Hydrocephalus growth retardation skeletal anomalies
* Hydrocephalus obesity hypogonadism
* Hydrocephalus skeletal anomalies
* Hydrocephalus with associated malformations - See Game Friedman Paradice syndrome
* Hydrocephalus with cerebellar agenesis - See Cerebellum agenesis hydrocephaly
* Hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies - See Baker Vinters syndrome
* Hydrocephalus with stenosis of the aqueduct of Sylvius - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* Hydrocephalus, agyria and retinal dysplasia - See Walker-Warburg syndrome
* Hydrocephalus, cardiac malformation, dense bones, etc - See Beemer Ertbruggen syndrome
* Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
* Hydrocephalus, endocardial fibroelastosis, and cataracts - See HEC syndrome
* Hydrocephalus, skeletal anomalies, and mental disturbance - See Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
* Hydrocephalus, tall stature, joint laxity and kyphoscoliosis - See Daish Hardman Lamont syndrome
* Hydrocephalus, X-linked - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* Hydrocephalus-agyria-retinal dysplasia syndrome - See Walker-Warburg syndrome
* Hydrocephaly - See Hydrocephalus
* Hydrocephaly - low insertion umbilicus - See Palmer Pagon syndrome
* Hydrocephaly - tall stature - joint laxity - See Daish Hardman Lamont syndrome
* Hydrocephaly corpus callosum agenesis diaphragmatic hernia
* Hydrolethalus syndrome
* Hydrometrocolpos - postaxial polydactyly - See McKusick Kaufman syndrome
* Hydrometrocolpos syndrome - See McKusick Kaufman syndrome
* Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation - See McKusick Kaufman syndrome
* Hydromyelia - See Syringomyelia
* Hydronephrosis - inverted smile - See Ochoa syndrome
* Hydronephrosis due to PUJO - See Multicystic renal dysplasia, bilateral
* Hydronephrosis peculiar facial expression
* Hydronephrosis with peculiar facial expression - See Ochoa syndrome
* Hydrops - ectopic calcification - motheaten - See Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
* Hydrops ectrodactyly syndactyly
* Hydrops fetalis
* Hydrops fetalis anemia immune disorder absent thumb
* Hydrops fetalis nonimmune - See Hydrops fetalis
* Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
* Hydrops, ectrodactyly, syndactyly, duplication of the great toes - See Landy-Donnai syndrome
* Hydroxyacyl-CoA dehydrogenase II deficiency - See 2-methyl-3-hydroxybutyric aciduria
* Hydroxycarboxylic aciduria
* Hydroxykynureninuria
* Hydroxymethylbilane synthase deficiency - See Acute intermittent porphyria
* Hydroxymethylglutaric aciduria - See HMG CoA lyase deficiency
* Hydroxyprolinemia
* Hygroma cervical
* Hymenolepiasis
* Hymenolepsis infection - See Hymenolepiasis
* HYP - See Hypophosphatemic rickets
* Hyper Ig E syndrome, autosomal dominant - See Autosomal dominant hyper IgE syndrome
* Hyper Ig E syndrome, autosomal recessive - See Autosomal recessive hyper IgE syndrome
* Hyper IgD syndrome - See Hyper-IgD syndrome
* Hyper IgE syndrome
* Hyper IgM immunodeficiency, x-linked - See Immunodeficiency with hyper IgM type 1
* Hyper IgM syndrome - See Immunodeficiency with hyper IgM type 1
* Hyper IgM syndrome 1 - See Immunodeficiency with hyper IgM type 1
* Hyper IgM syndrome 2 - See Immunodeficiency with hyper IgM type 2
* Hyper IgM syndrome 3 - See Immunodeficiency with hyper IgM type 3
* Hyper IgM syndrome 4 - See Immunodeficiency with hyper IgM type 4
* Hyper IgM syndrome 5 - See Immunodeficiency with hyper IgM type 5
* Hyperacusis
* Hyperadrenalism
* Hyperadrenocorticism - See Cushing's syndrome
* Hyperalaninemia - See Hyperbetaalaninemia
* Hyperaldosteronism, familial type 1 - See Glucocorticoid-remediable aldosteronism
* Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency - See Carbamoyl phosphate synthetase 1 deficiency
* Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency - See N-acetylglutamate synthetase deficiency
*   Hyperandrogenic, insulin-resistant acanthosis nigricans syndrome - See HAIR-AN syndrome
*   Hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN) - See HAIR-AN syndrome
* Hyperargininemia - See Arginase deficiency
* Hyperbetaalaninemia
* Hyper-beta-alaninemia - See Hyperbetaalaninemia
* Hyperbetalipoproteinemia - See Hyperlipoproteinemia type 2
* Hyper-beta-lipoproteinemia - See Hyperlipoproteinemia type 2
* Hyperbilirubinemia 2 - See Dubin-Johnson syndrome
*   Hyperbilirubinemia Arias type - See Gilbert syndrome
* Hyperbilirubinemia transient familial neonatal
*   Hyperbilirubinemia type 1 - See Gilbert syndrome
* Hyperbilirubinemia type 2
* Hyperbilirubinemia type 2 - See Dubin-Johnson syndrome
* Hyperbilirubinemia, Rotor type - See Rotor syndrome
* Hyperbilirubinemic encephalopathy - See Kernicterus
* Hyperbrachycephaly, short face, fused cervical vertebrae, bone defects, and destruction of periodontium - See Bazopoulou-Kyrkanidou syndrome
* Hypercalcemia, familial benign type 1 - See Familial hypocalciuric hypercalcemia type 1
* Hypercalcemia, familial benign type 2 - See Familial hypocalciuric hypercalcemia type 2
* Hypercalcemia, familial benign, Oklahoma type - See Familial hypocalciuric hypercalcemia type 3
* Hypercalcemia, familial benign, type 3 - See Familial hypocalciuric hypercalcemia type 3
* Hypercalcemia, familial, with nephrocalcinosis and indicanuria - See Blue diaper syndrome
* Hypercalcemic nephropathy - See Nephrocalcinosis
* Hypercalcinuria macular coloboma
* Hypercementosis
*   Hypercholesterolemia, autosomal dominant
* Hyperchylomicro-nemia familial - See Hyperlipoproteinemia type 1
* Hyperchylomicronemia late onset - See Hyperlipoproteinemia type 5
* Hyperchylomicronemia with hyperprebetalipoproteinemia, familial - See Hyperlipoproteinemia type 5
* Hypercortisolism - See Cushing's syndrome
* Hyperdactyly - See Polydactyly
* Hyperdibasic aminoaciduria type 2 - See Lysinuric protein intolerance
* Hyperekplexia - See Hereditary hyperekplexia
* Hypereosinophilic syndrome
* Hypereosinophilic syndrome, idiopathic - See Hypereosinophilic syndrome
* Hyperexplexia hereditary - See Hereditary hyperekplexia
* Hyperferritinemia cataract syndrome
* Hypergastrinemic, hyperpepsinogenemic duodenal ulcer - See Duodenal ulcer due to antral G-cell hyperfunction
* Hyperglycerolemia
* Hyperglycinemia nonketotic - See Glycine encephalopathy
* Hyperglycinemia with ketoacidosis and leukopenia - See Propionic acidemia
* Hyperglycinemia, isolated nonketotic
* Hyperglycinemia, isolated nonketotic type 1
* Hyperglycinemia, isolated nonketotic type 2
* Hypergonadotropic hypogonadism - cataract syndrome - See Lubinsky syndrome
* Hypergonadotropic ovarian failure, familial or sporadic
* Hyperhidrosis gustatory - See Frey's syndrome
* Hyper-IgD syndrome
* Hyper-IgE recurrent infection syndrome - See Hyper IgE syndrome
* Hyper-IgM syndrome due to CD40 deficiency - See Immunodeficiency with hyper IgM type 3
* Hyper-IgM syndrome due to CD40 ligand deficiency - See Immunodeficiency with hyper IgM type 1
* Hyper-IgM syndrome due to CD40L deficiency - See Immunodeficiency with hyper IgM type 1
* Hyper-IgM syndrome due to UNG deficiency - See Immunodeficiency with hyper IgM type 5
* Hyper-IgM syndrome due to uracil N-glycosylase - See Immunodeficiency with hyper IgM type 5
* Hyper-IgM syndrome type 1 - See Immunodeficiency with hyper IgM type 1
* Hyper-IgM syndrome type 2 - See Immunodeficiency with hyper IgM type 2
* Hyper-IgM syndrome type 3 - See Immunodeficiency with hyper IgM type 3
* Hyper-IgM syndrome type 4 - See Immunodeficiency with hyper IgM type 4
* Hyper-IgM syndrome type 5 - See Immunodeficiency with hyper IgM type 5
* Hyperimidodipeptiduria - See Prolidase deficiency
* Hyperimmunoglobinemia D with recurrent fever - See Hyper-IgD syndrome
* Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant - See Autosomal dominant hyper IgE syndrome
* Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive - See Autosomal recessive hyper IgE syndrome
* Hyperimmunoglobulin E syndrome - See Hyper IgE syndrome
* Hyperimmunoglobulin E syndrome type 1 - See Autosomal dominant hyper IgE syndrome
* Hyperimmunoglobulin E syndrome type 2 - See Autosomal recessive hyper IgE syndrome
* Hyperimmunoglobulin E-recurrent infection syndrome - See Autosomal dominant hyper IgE syndrome
* Hyperimmunoglobulinemia D and periodic fever syndrome - See Hyper-IgD syndrome
* Hyperimmunoglobulinemia D syndrome - See Hyper-IgD syndrome
* Hyperimmunoglobulinemia D with periodic fever - See Hyper-IgD syndrome
* Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia - See Familial hyperinsulinism
* Hyperinsulinemic hypoglycemia due to glucokinase deficiency - See Hyperinsulinism due to glucokinase deficiency
* Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
* Hyperinsulinemic hypoglycemia exercise-induced - See Exercise-induced hyperinsulinemic hypoglycemia
* Hyperinsulinemic hypoglycemia familial - See Familial hyperinsulinism
* Hyperinsulinemic hypoglycemia familial 2
* Hyperinsulinemic hypoglycemia familial 3
* Hyperinsulinemic hypoglycemia familial 6 - See Hyperinsulinism-hyperammonemia syndrome
* Hyperinsulinemic hypoglycemia familial 7 - See Exercise-induced hyperinsulinemic hypoglycemia
* Hyperinsulinism congenital - See Familial hyperinsulinism
* Hyperinsulinism due to glucokinase deficiency
* Hyperinsulinism due to glutamodehydrogenase deficiency - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
* Hyperinsulinism due to glutamodehydrogenase deficiency
* Hyperinsulinism due to HADH deficiency - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
* Hyperinsulinism due to SCHAD deficiency - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
* Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
* Hyperinsulinism familial with pancreatic nesidioblastosis - See Familial hyperinsulinism
* Hyperinsulinism hyperammonemia syndrome - See Hyperinsulinism-hyperammonemia syndrome
* Hyperinsulinism, diffuse
* Hyperinsulinism, focal
* Hyperinsulinism-hyperammonemia syndrome
* Hyperkalemic periodic paralysis
* Hyperkalemic PP - See Hyperkalemic periodic paralysis
* Hyperkaliemia - hypertension, Gordon type - See Pseudohypoaldosteronism type 2
* Hyperkeratosis follicularis et parafollicularis in cutem penetrans - See Kyrle disease
* Hyperkeratosis lenticularis perstans
* Hyperkeratosis lenticularis perstans of Flegel - See Hyperkeratosis lenticularis perstans
* Hyperkeratosis of the palms and soles and esophageal papillomas - See Tylosis
* Hyperkeratosis palmoplantar localized acanthokeratolytic
* Hyperkeratosis palmoplantar localized epidermolytic
* Hyperkeratosis palmoplantaris with periodontosis - See Papillon Lefevre syndrome
* Hyperkeratosis, localized epidermolytic - See Palmoplantar keratoderma, epidermolytic
* Hyperkeratosis-contracture syndrome - See Tight skin contracture syndrome, lethal
* HyperKPP - See Hyperkalemic periodic paralysis
* Hyperlipemia combined fat and carbohydrate-induced - See Hyperlipoproteinemia type 5
* Hyperlipemia essential familial - See Familial hyperlipo-proteinemia type 1
* Hyperlipemia idiopathic Burger-Grutz type - See Hyperlipoproteinemia type 1
* Hyperlipemia idiopathic Burger-Grutz type - See Familial hyperlipo-proteinemia type 1
* Hyperlipemia mixed - See Hyperlipoproteinemia type 5
*   Hyperlipidema, Familial - See Hypercholesterolemia, autosomal dominant
* Hyperlipidemia type 3
* Hyperlipidemia type V - See Hyperlipoproteinemia type 5
* Hyperlipoproteinemia type 1 - See Familial hyperlipo-proteinemia type 1
* Hyperlipoproteinemia type 1
* Hyperlipoproteinemia type 2
* Hyperlipoproteinemia type 3 - See Hyperlipidemia type 3
* Hyperlipoproteinemia type 4
* Hyperlipoproteinemia type 5
* Hyperlipoproteinemia type I - See Hyperlipoproteinemia type 1
* Hyperlipoproteinemia type II - See Hyperlipoproteinemia type 2
* Hyperlipoproteinemia type III - See Hyperlipidemia type 3
* Hyperlipoproteinemia type V - See Hyperlipoproteinemia type 5
*   Hyperlipoproteinemia, type 2 A - See Hypercholesterolemia, autosomal dominant
* Hyperlysinemia
* Hyperlysinemia type I - See Hyperlysinemia
* Hyperlysinemia type II - See Saccharopinuria
* Hypermanganesemia with dystonia polycythemia and cirrhosis
* Hypernephroma - See Kidney cancer
* Hypernychthemeral syndrome - See Non 24 hour sleep wake disorder
* Hyperornithinemia - See Gyrate atrophy of choroid and retina
* Hyperornithinemia - gyrate atrophy of choroid and retina - See Gyrate atrophy of choroid and retina
* Hyperornithinemia with gyrate atrophy of choroid and retina - See Gyrate atrophy of choroid and retina
* Hyperornithinemia-hyperammonemia-homocitrullinuria - See Ornithine translocase deficiency syndrome
* Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - See Ornithine translocase deficiency syndrome
* Hyperostosid corticalis deformans juvenilis - See Osteoectasia familial
* Hyperostosis cortical infantile
* Hyperostosis corticalis deformans juvenilis - See Paget disease, juvenile
* Hyperostosis corticalis generalisata
* Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus
* Hyperostosis frontalis interna - See Morgagni-Stewart-Morel syndrome
* Hyperostosis frontalis interna, obesity, shortness and cognitive impairment - See Morgagni-Stewart-Morel syndrome
* Hyperostosis with hyperphosphatemia - See Hyperostosis-hyperphosphatemia syndrome
* Hyperostosis-hyperphosphatemia syndrome
* Hyperostotic dwarfism Lenz-Majewski type - See Lenz Majewski hyperostotic dwarfism
* Hyperparathyroidism 1 - See Familial isolated hyperparathyroidism
* Hyperparathyroidism 2 - See Hyperparathyroidism-jaw tumor syndrome
* Hyperparathyroidism, familial isolated primary - See Familial isolated hyperparathyroidism
* Hyperparathyroidism, neonatal severe primary
* Hyperparathyroidism, primary
* Hyperparathyroidism-jaw tumor syndrome
* Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome - See Catel Manzke syndrome
* Hyperphenilalaninemia due to pterin-4-alpha-carbin
* Hyperphenylalanemia, BH4-deficient, A - See 6-pyruvoyl-tetrahydropterin synthase deficiency
* Hyperphenylalaninemia caused by a defect in biopterin metabolism - See Tetrahydrobiopterin deficiency
* Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency - See 6-pyruvoyl-tetrahydropterin synthase deficiency
* Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency - See 6-pyruvoyl-tetrahydropterin synthase deficiency
* Hyperphenylalaninemia due to dehydratase deficiency
* Hyperphenylalaninemia due to dihydropteridine reductase deficiency - See Dihydropteridine reductase deficiency
* Hyperphenylalaninemia due to GTP cyclohydrolase deficiency - See GTP cyclohydrolase I deficiency
* Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency - See Hyperphenylalaninemia due to dehydratase deficiency
* Hyperphenylalaninemia with Primapterinuria - See Hyperphenylalaninemia due to dehydratase deficiency
* Hyperphenylalaninemia, BH4-Deficient, B - See GTP cyclohydrolase I deficiency
* Hyperphenylalaninemia, BH-4-deficient, C - See Dihydropteridine reductase deficiency
* Hyperphenylalaninemia, BH4-deficient, D - See Hyperphenylalaninemia due to dehydratase deficiency
* Hyperphenylalaninemia, non-phenylketonuric - See Tetrahydrobiopterin deficiency
* Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency - See GTP cyclohydrolase I deficiency
* Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency - See Hyperphenylalaninemia due to dehydratase deficiency
* Hyperphenylalaninemic embryopathy - See Maternal hyperphenylalaninemia
* Hyperphosphatasemia tarda - See Hyperostosis corticalis generalisata
* Hyperphosphatasemia, chronic congenital idiopathic - See Paget disease, juvenile
* Hyperphosphatasia, familial idiopathic - See Paget disease, juvenile
* Hyperphosphatemic familial tumoral calcinosis
* Hyperpipecolatemia
* Hyperpipecolic acidemia - See Hyperpipecolatemia
* Hyperplasia of thymus gland - See Thymic hyperplasia
* Hyperpotassemia and hypertension familial - See Pseudohypoaldosteronism type 2
* HyperPP - See Hyperkalemic periodic paralysis
* Hyperprolactinaemia - See Galactorrhoea-Hyperprolactinaemia
* Hyperprolinemia
* Hyperprolinemia type 1 - See Hyperprolinemia
* Hyperprolinemia type 2
* Hyperprolinemia type 2 - See Hyperprolinemia type 2
* Hyperprostaglandin E syndrome 1 - See Bartter syndrome antenatal type 1
* Hyperprostaglandin E syndrome 2 - See Bartter syndrome antenatal type 2
* Hyperprothrombinemia - See Prothrombin thrombophilia
* Hyperpyrexia malignant - See Malignant hyperthermia
* Hyperpyrexia, malignant - See Malignant hyperthermia susceptibility type 1
* Hyper-reninism
* Hypersarcosinemia - See Sarcosinemia
* Hypersecretion of adrenal androgens, familial - See Familial hypersecretion of adrenal androgens
* Hypersensitivity angiitis - See Microscopic polyangiitis
* Hypersensitivity pneumonitis - See Alveolitis, extrinsic allergic
* Hypersensitivity pneumonitis - See Familial hypersensitivity pneumonitis
* Hypersensitivity pneumonitis familial - See Familial hypersensitivity pneumonitis
* Hypersensitivity vasculitis
* Hypertelorism - hypospadias - polysyndactyly syndrome - See Naguib-Richieri-Costa syndrome
* Hypertelorism and tetralogy of Fallot
* Hypertelorism hypospadias polysyndactyly syndrome - See Naguib-Richieri-Costa syndrome
* Hypertelorism hypospadias syndrome - See Opitz G/BBB syndrome
* Hypertelorism microtia facial clefting syndrome - See Bixler Christian Gorlin syndrome
* Hypertelorism with esophageal abnormality and hypospadias - See Opitz G/BBB syndrome
* Hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies - See Seaver Cassidy syndrome
* Hypertelorism, short midface, arachnodactyly, coloboma of Iris and delayed bone age - See Vagneur Triolle Ripert syndrome
* Hypertelorism, Teebi type - See Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
* Hypertelorism, Teebi type - See Brachycephalofrontonasal dysplasia
* Hypertelorism-microtia-facial clefting syndrome - See Bixler Christian Gorlin syndrome
* Hypertelorism-oesophageal abnormality-hypospadias syndrome - See Opitz G/BBB syndrome
*   Hypertension, Portal - See Portal hypertension
* Hypertensive hyperkalemia - See Pseudohypoaldosteronism type 2
* Hypertensive hypokalemia familial
* Hyperthermia induced defects
* Hyperthermia of anesthesia - See Malignant hyperthermia susceptibility type 6
* Hyperthermia of anesthesia - See Malignant hyperthermia susceptibility type 1
* Hyperthyroxinemia, eumetabolic, due to T4 plasma membrane transport - See Thyroid hormone plasma membrane transport defect
* Hypertrichose avec ou sans hyperplasie gingivale - See Gingival fibromatosis with hypertrichosis
* Hypertrichosis - atrophic skin - ectropion - macrostomia - See Barber Say syndrome
* Hypertrichosis atrophic skin ectropion macrostomia - See Barber Say syndrome
* Hypertrichosis congenital generalized X-linked
* Hypertrichosis cubiti - See Hairy elbows
* Hypertrichosis cubiti - short stature - See Hairy elbows
* Hypertrichosis lanuginosa congenita
* Hypertrichosis lanuginosa universalis - See Hypertrichosis lanuginosa congenita
* Hypertrichosis lanuginosa, acquired
* Hypertrichosis terminalis, generalized, with gingival hyperplasia - See Gingival fibromatosis with hypertrichosis
* Hypertrichosis universalis - See Hypertrichosis lanuginosa congenita
* Hypertrichosis universalis congenita Ambras type - See Ambras syndrome
* Hypertrichosis with or without gingival hyperplasia - See Gingival fibromatosis with hypertrichosis
* Hypertrichosis, anterior cervical
* Hypertrichosis, atrophic skin, ectropion, and macrostomia - See Barber Say syndrome
* Hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy - See Cervical hypertrichosis peripheral neuropathy
* Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
* Hypertrichotic osteochondrodysplasia - See Cantu syndrome
* Hypertrichotic osteochondrodysplasia, Cantu type - See Cantu syndrome
* Hypertrophic branchial myopathy
* Hypertrophic cardiomyopathy due to intensive athletic training - See Juvenile hyaline fibromatosis
* Hypertrophic gastropathy - See Menetrier disease
* Hypertrophic hemangiectasia
* Hypertrophic neuropathy of Dejerine-Sottas
* Hypertrophic neuropathy of infancy - See Hypertrophic neuropathy of Dejerine-Sottas
* Hypertrophic neuropathy of Refsum - See Refsum disease
* Hypertrophy and asymmetry of the facial muscles - See Hemifacial myohyperplasia
* Hypertryptophanemia
* Hyperuricemic nephropathy, familial juvenile, atypical - See Maturity-onset diabetes of the young, type 5
* Hypervalinemia - See Valinemia
* Hypnic headache
* Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability - See Macules hereditary congenital hypopigmented and hyperpigmented
* Hypoadrenalism
* Hypoadrenocorticism familial - See Addison's disease
* Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis - See Autoimmune polyglandular syndrome type 1
* Hypoaldosteronism
* Hypoalphalipoproteinemia, familial - See Familial HDL deficiency
* Hypoalphalipoproteinemia, primary - See Familial HDL deficiency
* Hypoascorbemia - See Scurvy
* Hypobetalipoproteinaemia ataxia hearing loss
* Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells - See Chylomicron retention disease
* Hypobetalipoproteinemia, familial - See Familial hypobetalipoproteinemia
* Hypocalcemia, autosomal dominant
* Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis - See Ameloonychohypohidrotic syndrome
* Hypocalciuric hypercalcemia, familial, type 1 - See Familial hypocalciuric hypercalcemia type 1
* Hypocalciuric hypercalcemia, familial, type 2 - See Familial hypocalciuric hypercalcemia type 2
* Hypocalciuric hypercalcemia, familial, type 3 - See Familial hypocalciuric hypercalcemia type 3
* Hypoceruloplasminemia - See Aceruloplasminemia
* Hypochondroplasia
* Hypochromic microcytic anemia with iron overload
* Hypocomplementemic urticarial vasculitis syndrome
* Hypodermitis sclerodermaformis - See Lipodermatosclerosis
* Hypodermyasis
* Hypodontia - dysplasia of nails - See Witkop syndrome
* Hypodontia - nail dysgenesis - See Witkop syndrome
* Hypodontia of incisors and premolars
* Hypodontia, X-linked
* Hypofibrinogenemia, familial
* Hypogammaglobulinemia and isolated growth hormone deficiency, x-linked - See Isolated growth hormone deficiency type 3
* Hypogamma-globulinemia, acquired - See Common variable immunodeficiency
* Hypoganglionosis
* Hypoglossia - hypodactyly - See Hanhart syndrome
* Hypoglossia-hypodactylia syndrome - See Hanhart syndrome
* Hypoglycemia hyperinsulinemic of infancy - See Familial hyperinsulinism
* Hypoglycemia leucine induced - See Leucine-sensitive hypoglycemia of infancy
* Hypoglycemia leucine-induced - See Leucine-sensitive hypoglycemia of infancy
* Hypoglycemia with deficiency of glycogen synthetase in the liver
* Hypogonadism and frontoparietal alopecia - See Slti Salem syndrome
* Hypogonadism cardiomyopathy
* Hypogonadism cataract syndrome - See Lubinsky syndrome
* Hypogonadism cataract syndrome - See Lubinsky syndrome
* Hypogonadism male mental retardation skeletal anomaly
* Hypogonadism mitral valve prolapse mental retardation
* Hypogonadism primary partial alopecia
* Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
* Hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities - See Woodhouse Sakati syndrome
* Hypogonadism, isolated, hypogonadotropic
* Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome - See Orofaciodigital syndrome 13
* Hypogonadotropic hypogonadism - retinitis pigmentosa - See Chang Davidson Carlson syndrome
* Hypogonadotropic hypogonadism alopecia - See Slti Salem syndrome
* Hypogonadotropic hypogonadism and anosmia - See Kallmann syndrome
* Hypogonadotropic hypogonadism associated with retinitis pigmentosa - See Chang Davidson Carlson syndrome
* Hypogonadotropic hypogonadism without anosmia, X-linked
* Hypogonadotropic hypogonadism-anosmia syndrome - See Kallmann syndrome
* Hypohidrotic ectodermal dysplasia
* Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia - See Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
* Hypohidrotic ectodermal dysplasia autosomal dominant
* Hypohidrotic ectodermal dysplasia autosomal recessive
* Hypohidrotic ectodermal dysplasia with hypothyroidism - See Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
* Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
* Hypohidrotic ectodermal dysplasia with immune deficiency
* Hypohidrotic ectodermal dysplasia X-linked - See X-linked hypohidrotic ectodermal dysplasia
* Hypokalemic alkalosis with hypercalciuria - See Bartter syndrome
* Hypokalemic alkalosis with hypercalciuria antenatal 1 - See Bartter syndrome antenatal type 1
* Hypokalemic alkalosis with hypercalciuria antenatal 2 - See Bartter syndrome antenatal type 2
* Hypokalemic periodic paralysis
* Hypoketonemic hypoglycemia
* Hypokinetic dilated cardiomyopathy, familial - See Familial dilated cardiomyopathy
* Hypolipoproteinemia
* Hypomagnesemia 2, renal
* Hypomagnesemia 6
* Hypomagnesemia primary
* Hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis - See Hypomagnesemia primary
* Hypomagnesemia, isolated renal - See Hypomagnesemia primary
* Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria - See Gitelman syndrome
* Hypomandibular faciocranial dysostosis
* Hypomelanosis of Ito
* Hypomelanosis with no immunologic or neurologic manifestations - See Griscelli syndrome type 3
* Hypomelanotic disorder
* Hypomelia hypotrichosis facial hemangioma syndrome - See Roberts syndrome
* Hypomelia mullerian duct anomalies
* Hypomyelination - congenital cataract - See Hypomyelination and congenital cataract
* Hypomyelination and congenital cataract
* Hypomyelination with atrophy of basal ganglia and cerebellum
* Hypomyelination, severe congenital - See Charcot-Marie-Tooth disease type 4E
* Hyponychia congenita - See Anonychia congenita
* Hypoparathyroidism
* Hypoparathyroidism - Addisons disease - mucocutaneous candidiasis - See Partial androgen insensitivity syndrome
* Hypoparathyroidism - Addisons disease - mucocutaneous candidosis - See Partial androgen insensitivity syndrome
* Hypoparathyroidism - deafness - renal disease - See Barakat syndrome
* Hypoparathyroidism - intellectual disability - dysmorphism - See Hypoparathyroidism-retardation-dysmorphism syndrome
* Hypoparathyroidism - short stature - intellectual disability - seizures - See Hypoparathyroidism-retardation-dysmorphism syndrome
* Hypoparathyroidism familial isolated
* Hypoparathyroidism lymphedema syndrome - See Dahlberg Borer Newcomer syndrome
* Hypoparathyroidism short stature mental retardation
* Hypoparathyroidism with short stature, mental retardation and seizures - See Hypoparathyroidism-retardation-dysmorphism syndrome
* Hypoparathyroidism X-linked
* Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay - See Hypoparathyroidism-retardation-dysmorphism syndrome
* Hypoparathyroidism, idiopathic (subtype) - See Hypoparathyroidism
* Hypoparathyroidism, sensorineural deafness, and renal dysplasia - See Barakat syndrome
* Hypoparathyroidism-retardation-dysmorphism syndrome
* Hypopharyngeal cancer
* Hypophosphatasia
* Hypophosphatasia - See Hypophosphatasia childhood
* Hypophosphatasia childhood
* Hypophosphatasia mild - See Hypophosphatasia
* Hypophosphatemia, X-linked - See Hypophosphatemic rickets
* Hypophosphatemia, vitamin D-resistant rickets - See Hypophosphatemic rickets
* Hypophosphatemic rickets
* Hypopigmentation - See Hypomelanotic disorder
* Hypopigmentation - immunodeficiency with or without neurologic impairment - See Griscelli syndrome type 2
* Hypopigmentation - neurologic impairment - See Griscelli syndrome type 1
* Hypopigmentation oculocerebral syndrome Cross type - See Oculocerebral syndrome with hypopigmentation
* Hypopigmentation/deafness of Tietz - See Tietz syndrome
* Hypopigmentation-deafness syndrome - See Tietz syndrome
* Hypopituitarism
* Hypopituitarism - micropenis - cleft lip/palate - See Hypopituitarism micropenis cleft lip palate
* Hypopituitarism - postaxial polydactyly - See Hypopituitarism postaxial polydactyly
* Hypopituitarism and septooptic 'dysplasia' - See Septo-optic dysplasia
* Hypopituitarism micropenis cleft lip palate
* Hypopituitarism microphthalmia - See Kaplowitz Bodurtha syndrome
* Hypopituitarism postaxial polydactyly
* Hypoplasia hepatic ductular
* Hypoplasia of the femoral trochlea - See Trochlear dysplasia
* Hypoplasia of the right ventricle - See Right ventricle hypoplasia
* Hypoplasia of the tibia with polydactyly
* Hypoplasia of ulna and fibula - See Ulna and fibula, hypoplasia of
* Hypoplasminogenemia - See Type 1 plasminogen deficiency
* Hypoplastic amelogenesis imperfecta - See Gamma heavy chain disease
* Hypoplastic left heart syndrome
* Hypoplastic pulmonary arteries and aorta with obstructive uropathy - See Kashani Strom Utley syndrome
* Hypoplastic right heart syndrome
* Hypoplastic right-sided heart complex - See Baetz-Greenwalt syndrome
* Hypoplastic thumb mullerian aplasia
* Hypoplastic thumbs hydranencephaly
* HypoPP - See Hypokalemic periodic paralysis
* Hypoproconvertinemia - See Factor VII deficiency
* Hypoproconvertinemia - See Proconvertin deficiency, congenital
* Hypoproteinemic hypertrophic gastropathy - See Menetrier disease
* Hypoprothrombinemia - See Inherited hypoprothrombinemia
* Hypoprothrombinemia, acquired - See Acquired hypoprothrombinemia
* Hypoprothrombinemia, inherited - See Inherited hypoprothrombinemia
* Hyporeninemic hypoaldosteronism
* Hyposmia nasal hypoplasia hypogonadism
* Hypospadias - hypertelorism - coloboma and deafness - See Heterotaxy
* Hypospadias - intellectual disability, Goldblatt type - See Hypospadias mental retardation Goldblatt type
* Hypospadias familial
* Hypospadias intellectual deficit Goldblatt type - See Hypospadias mental retardation Goldblatt type
* Hypospadias mental retardation Goldblatt type
* Hypospadias mental retardation syndrome - See Hypospadias mental retardation Goldblatt type
* Hypospadias-dysphagia syndrome - See Opitz G/BBB syndrome
* Hypospadias-dysphagia, syndrome - See Opitz G/BBB syndrome
* Hypospadias-hypertelorism syndrome - See Opitz G/BBB syndrome
* Hypotelorism - cleft palate - hypospadias - See Hypotelorism cleft palate hypospadias
* Hypotelorism cleft palate hypospadias
* Hypothalamic dysfunction
* Hypothalamic hamartoblastoma syndrome - See Pallister-Hall syndrome
* Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - See Pallister-Hall syndrome
* Hypothalamic hamartomas
* Hypothyroidism - cleft palate - See Bamforth syndrome
* Hypothyroidism cleft palate Hypothyroidism, athyroidal, with spiky hair and cleft palate - See Bamforth syndrome
* Hypothyroidism due to iodide transport defect
* Hypothyroidism postaxial polydactyly mental retardation
* Hypotonia and ichthyosis due to dolichol phosphate deficiency - See DOLK-CDG (CDG-Im)
* Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
* Hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion - See Qazi Markouizos syndrome
* Hypotonic sclerotic muscular dystrophy
* Hypotrichosis associated with congenital hypoplasia of the thumb - See Thumb deformity, alopecia, pigmentation anomaly
* Hypotrichosis simplex
* Hypotrichosis, congenital, with juvenile macular dystrophy - See Juvenile macular degeneration and hypotrichosis
* Hypotrichosis, Marie Unna type - See Marie Unna congenital hypotrichosis
* Hypouricemia, renal - See Renal hypouricemia
* Hypovitaminosis D - See Rickets
* Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency - See Lesch Nyhan syndrome
* Hypoxanthine guanine phosphoribosyltransferase complete deficiency - See Lesch Nyhan syndrome
* Hypoxanthine guanine phosphoribosyltransferase deficiency
* Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV - See Lesch Nyhan syndrome
* Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency - See Hypoxanthine guanine phosphoribosyltransferase deficiency
* Hypoxanthine-guanine phosphoribosyltransferase deficiency - See Hypoxanthine guanine phosphoribosyltransferase deficiency
* Hypoxia neonatorum - See Asphyxia neonatorum
* HYPP - See Hyperkalemic periodic paralysis
* HZO - See Herpes zoster ophthalmicus