Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [H]

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• H syndrome - See Histiocytosis-lymphadenopathy plus syndrome
• 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
• Habrodysplasia - See Gracile bone dysplasia
• Habsburg jaw - See Prognathism mandibular
• HADH deficiency - See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
• HAE - 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
• Hailey-Hailey disease
• Haim-Munk syndrome
• Hair defect-photosensitivity-intellectual disability syndrome
• HAIR-AN syndrome - not a rare disease
• Hair-pulling syndrome - See Trichotillomania - not a rare disease
• 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 Isolated anterior cervical hypertrichosis
• Hairy throat syndrome - See Isolated anterior cervical hypertrichosis
• Hairy tongue - See Black hairy tongue - not a rare disease
• Hajdu-Cheney syndrome - See Acroosteolysis dominant type
• HAL deficiency - See Histidinemia
• Halal Setton Wang syndrome
• Halal 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
• Hallgren syndrome - See Usher syndrome
• Hall-Hittner syndrome - See CHARGE syndrome
• Hall-Riggs syndrome
• Hallux syndactyly ulnar polydactyly abnormal ear lobes - See Syndactyly-polydactyly-earlobe syndrome
• Hallux varus and preaxial polysyndactyly - See Kleiner Holmes syndrome
• Halo nevi
• HAM/TSP - See HTLV-1 associated myelopathy/tropical spastic paraparesis
• Hamanishi Ueba Tsuji syndrome
• Hamann Zanki schimrigk syndrome - See Spasticity multiple exostoses
• Hamano Tsukamoto syndrome - See Spinal atrophy ophthalmoplegia pyramidal syndrome
• Hamartoma of the hypothalamus - See Hypothalamic hamartomas
• Hamman-Rich syndrome - See Acute interstitial pneumonia
• 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
• Handigodu joint disease - See Spondyloepimetaphyseal dysplasia, Handigodu type - not a rare disease
• HaNDL syndrome
• HANE - See Hereditary angioedema
• Hangover, susceptibility to - See Acute alcohol sensitivity
• Hanhart syndrome
• 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
• Happle syndrome - See X-linked dominant chondrodysplasia punctata 2
• 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
• Hardikar syndrome
• Harding ataxia
• HARDS - See Hantavirus pulmonary syndrome
• 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
• Hartsfield syndrome - See Holoprosencephaly ectrodactyly cleft lip palate
• HAS - See Adie syndrome
• Hashimoto encephalopathy
• Hashimoto-Pritzker disease - See Hashimoto-Pritzker syndrome
• Hashimoto-Pritzker histiocytosis - See Hashimoto-Pritzker syndrome
• Hashimoto-Pritzker syndrome
• Hashimoto's disease - See Hashimoto's syndrome - not a rare disease
• Hashimoto's encephalopathy - See Hashimoto encephalopathy
• Hashimoto's struma - See Hashimoto's syndrome - not a rare disease
• Hashimoto's syndrome - not a rare disease
• Hashimoto's thyroiditis - See Hashimoto's syndrome - not a rare disease
• Haspeslagh syndrome - See Short stature-craniofacial anomalies-genital hypoplasia syndrome
• Haspeslagh-Fryns-Muelenaere syndrome - See Short stature-craniofacial anomalies-genital hypoplasia syndrome
• Haw River syndrome - See Dentatorubral-pallidoluysian atrophy
• Hawkinsinuria
• Hay-Wells syndrome - See Ankyloblepharon-ectodermal defects-cleft lip/palate 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 - beta-thalassemia - See Sickle beta thalassemia
• HbS disease - See Sickle cell anemia
• HbS-beta-thalassemia syndrome - See Sickle beta thalassemia
• HbSC disease - See Hemoglobin SC disease
• HbSD disease - See Sickle cell - hemoglobin D disease
• HbSE disease - See Hemoglobin SE disease - not a rare disease
• Hb-Zurich - See Hemoglobin Zurich
• HCFP1 - See Hereditary congenital facial paresis
• HCG - See X-linked congenital generalized hypertrichosis
• HCH - See Hypochondroplasia
• HCHWA - See Hereditary cerebral hemorrhage with amyloidosis
• HCL - See Hairy cell leukemia
• HCP - See Hereditary coproporphyria
• HD - See Huntington disease
• HDDD - See Frontotemporal dementia, ubiquitin-positive
• HDGC - See Hereditary diffuse gastric cancer
• Hdl lipoprotein deficiency disease - See Tangier disease
• HDLD - See Familial HDL deficiency
• HDLDT1 - See Tangier disease
• HDLS - See Hereditary diffuse leukoencephalopathy with spheroids
• HDR syndrome - See Barakat syndrome
• HE - See Ehrlichiosis
• Head and neck arteriovenous malformation - See Extracranial arteriovenous malformation
• Head and neck AVM - See Extracranial arteriovenous malformation
• Head and neck cancer - not a rare disease
• Head and neck squamous cell carcinoma - See Squamous cell carcinoma of the head and neck - not a rare disease
• Hearing loss and familial salivary gland insensitivity to aldosterone - See Tunglang Savage Bellman 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 defects and limb shortening - See Cardioskeletal syndrome Kuwaiti type
• Heart defect-tongue hamartoma-polysyndactyly 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, Slovenian type
• Heart-hand syndrome, Spanish type
• Heart-hand syndrome, type 1 - See Holt-Oram syndrome
• Heavy metal poisoning
• Heavy Metal Toxicity - See Heavy metal poisoning
• HEC syndrome
• Hecht syndrome - See Trismus-pseudocamptodactyly syndrome
• Hecht-Scott syndrome - See Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
• HED - See Hypohidrotic ectodermal dysplasia
• HED - See Clouston syndrome
• HEDH syndrome - See Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
• HED-ID - See Hypohidrotic ectodermal dysplasia with immune deficiency
• hEDS - See Hypermobile Ehlers-Danlos syndrome
• Heimler syndrome - See Deafness enamel hypoplasia nail defects
• Heinz body anemias
• HELLP syndrome
• Helminthiasis
• Helsmoortel-van der Aa Syndrome - See ADNP syndrome
• HEM - See Greenberg dysplasia
• HEM A - See Hemophilia A
• HEM B - See Hemophilia B
• HEM dysplasia - See Greenberg dysplasia
• HEM/Greenberg dysplasia - See Greenberg dysplasia
• Hemangioblastoma
• Hemangioendothelioma
• Hemangioma thrombocytopenia syndrome
• Hemangiomas cavernous of face supraumbilical midline raphe - See Supraumbilical midabdominal raphe and facial cavernous hemangiomas
• Hemangiomatosis Chondrodystrophica - See Maffucci syndrome
• Hemangiomatosis, familial pulmonary capillary
• Hemangiomatous branchial clefts-lip pseudocleft syndrome - See Branchiooculofacial syndrome
• Hemangiopericytoma
• Hematidrosis - See Hematohidrosis
• Hematite pneumoconiosis - See Silicosiderosis
• Hematohidrosis
• Heme synthetase deficiency - See Erythropoietic protoporphyria
• Hemeralopia-myopia - See X-linked congenital stationary night blindness
• Hemi 3 syndrome
• Hemicord syndrome - See Brown-Sequard syndrome
• Hemicrania continua
• Hemifacial atrophy, progressive - See Progressive hemifacial atrophy
• Hemifacial hyperplasia strabismus
• Hemifacial microsomia
• Hemifacial microsomia with radial defects - See Microsomia hemifacial radial defects
• Hemifacial myohyperplasia
• Hemihyperplasia - See Hemihypertrophy
• Hemihypertrophy
• Hemihypertrophy and macrocephaly - See Proteus syndrome
• Hemimegalencephaly
• Hemiparaplegic syndrome - See Brown-Sequard syndrome
• Hemiplegia
• 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 - not a rare disease
• Hemochromatosis classic - See Hemochromatosis type 1 - not a rare disease
• 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 - not a rare disease
• Hemochromatosis type 2
• Hemochromatosis type 3
• Hemochromatosis type 4
• Hemochromatosis type 5
• Hemochromatosis, autosomal dominant - See Hemochromatosis type 4
• Hemoglobin C disease
• Hemoglobin E disease
• Hemoglobin M disease - See Methemoglobinemia, beta-globin type
• Hemoglobin S Disease - See Sickle cell anemia
• Hemoglobin SC disease
• Hemoglobin SE disease - not a rare disease
• Hemoglobin sickle-beta thalassemia - See Sickle beta thalassemia
• Hemoglobin Zurich
• Hemoglobinemia
• Hemoglobinopathy - not a rare disease
• 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 lethal congenital nonspherocytic with genital and other abnormalities
• Hemolytic uremic syndrome
• Hemolytic uremic syndrome, atypical, childhood
• Hemophagocytic lymphohistiocytosis, familial, 2
• Hemophagocytic lymphohistiocytosis, familial, 3
• Hemophagocytic lymphohistiocytosis, familial, 4
• Hemophagocytic reticulitis - See Hemophagocytic reticulosis
• Hemophagocytic reticulosis
• Hemophilia
• Hemophilia A
• Hemophilia A, congenital - See Hemophilia A
• Hemophilia B
• Hemophilia C - See Factor XI deficiency
• Hemophilia, classic - See Hemophilia A
• Hemophilic arthropathy
• Hemophilus influenzae - See Haemophilus influenzae
• Hemorrhagic dengue - See Dengue fever
• Hemorrhagic familial nephritis - See Alport syndrome
• 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 lymphangiectasia lymphedema syndrome - See Hennekam syndrome
• Hennekam syndrome
• Henoch Schonlein purpura - See Henoch-Schonlein purpura
• Henoch-Schonlein purpura
• HEP - See Hepatoerythropoietic porphyria
• Heparan sulfamidase deficiency - See Mucopolysaccharidosis type IIIA
• Heparan sulfate sulfatase deficiency - See Mucopolysaccharidosis type IIIA
• Heparan-alpha-glucosaminide N-acetyltransferase deficiency - See Mucopolysaccharidosis type IIIC
• Heparane sulfamidase deficiency
• Heparin-induced thrombocytopenia - See Heparin-induced thrombocytopenia
• Heparin-induced thrombocytopenia
• Hepatic AGT deficiency - See Primary hyperoxaluria type 1
• Hepatic carnitine palmitoyl transferase 1 deficiency - See Carnitine palmitoyl transferase 1A deficiency
• Hepatic carnitine palmitoyl transferase I deficiency - See Carnitine palmitoyl transferase 1A deficiency
• Hepatic carnitine palmitoyltransferase 1 deficiency - See Carnitine palmitoyl transferase 1A deficiency
• Hepatic CPT1 - See Carnitine palmitoyl transferase 1A deficiency
• Hepatic cystic hamartoma
• Hepatic ductular hypoplasia - See Alagille syndrome
• Hepatic encephalopathy
• Hepatic fructokinase deficiency - See Essential fructosuria - not a rare disease
• Hepatic glycogen synthase deficiency - See Glycogen storage disease type 0, liver
• Hepatic glycogenosis with amino aciduria and glucosuria - See Fanconi Bickel syndrome
• Hepatic lipase deficiency
• Hepatic phosphorylase kinase deficiency - See Glycogen storage disease 8
• Hepatic veno-occlusive disease
• Hepatic veno-occlusive disease - See Hepatic veno-occlusive disease
• Hepatic venoocclusive disease with immunodeficiency
• Hepatitis D
• Hepatitis E
• Hepatitis X - See Non-A-E hepatitis
• Hepatoblastoma
• Hepatocellular carcinoma with increased stromal fibrosis - See Fibrolamellar carcinoma
• Hepatocyte nuclear factor 1 beta–associated disease - See Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease
• Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease
• Hepatoencephalopathy - See Hepatic encephalopathy
• Hepatoerythropoietic porphyria
• Hepatofacioneurocardiovertebral syndrome - See Alagille syndrome
• Hepatolenticular degeneration - See Wilson disease
• Hepatopulmonary syndrome
• 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
• Hepato-renal syndrome - See 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
• Hereditary absence of proximal interphalangeal joints - See Proximal symphalangism
• Hereditary alpha tryptasemia syndrome - not a rare disease
• Hereditary amyloid nephropathy - See Amyloidosis familial visceral
• Hereditary amyloidosis
• Hereditary amyloidosis with primary renal involement - See Amyloidosis familial visceral
• Hereditary amyloidosis with primary renal involvement - See Amyloidosis familial visceral
• Hereditary angioedema
• Hereditary angioedema type 1 - See Hereditary angioedema
• Hereditary angioneurotic edema - 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 antithrombin deficiency
• Hereditary antithrombin deficiency type 1 - See Hereditary antithrombin deficiency type I
• Hereditary antithrombin deficiency type 2
• Hereditary antithrombin deficiency type I
• Hereditary areflexic dystasia - See Roussy Levy syndrome
• Hereditary ataxia
• Hereditary ATTR amyloidosis - See Familial transthyretin amyloidosis
• 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 brain cavernous angioma - See Familial cerebral cavernous malformation
• Hereditary brain cavernous hemangioma - See Familial cerebral cavernous malformation
• Hereditary branchial arch defects - See Aksu von Stockhausen syndrome
• Hereditary breast cancer - See Familial breast cancer - not a rare disease
• Hereditary breast carcinoma - See Familial breast cancer - not a rare disease
• Hereditary bundle branch defect - See Familial progressive cardiac conduction defect
• Hereditary cerebral cavernoma - See Familial cerebral cavernous malformation
• Hereditary cerebral cavernous malformation - See Familial cerebral cavernous malformation
• Hereditary cerebral hemorrhage with amyloidosis
• Hereditary ceruloplasmin deficiency - See Aceruloplasminemia
• Hereditary chin tremor/myoclonus - See Hereditary geniospasm
• Hereditary chronic pancreatitis - See Hereditary pancreatitis
• Hereditary congenital controlateral synkinesia - See Congenital mirror movement disorder
• Hereditary congenital facial paresis
• Hereditary congenital hypopigmented and hyperpigmented macules - See Macules hereditary congenital hypopigmented and hyperpigmented
• Hereditary congenital mirror movements - See Congenital mirror movement disorder
• Hereditary coproporphyria
• Hereditary coproporphyria porphyria - See Hereditary coproporphyria
• Hereditary cutis marmorata telangiectatica congenita - See Cutis marmorata telangiectatica congenita
• Hereditary diffuse cancer of stomach - See Hereditary diffuse gastric cancer
• Hereditary diffuse gastric adenocarcinoma - See Hereditary diffuse gastric cancer
• Hereditary diffuse gastric cancer
• Hereditary diffuse leukoencephalopathy with axonal spheroids - See Hereditary diffuse leukoencephalopathy with spheroids
• Hereditary diffuse leukoencephalopathy with spheroids
• Hereditary dystopic lipidosis - See Fabry disease
• Hereditary elliptocytosis
• 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 Myoclonus-dystonia
• Hereditary essential tremor - See Essential tremor - not a rare disease
• Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome - See Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• Hereditary folate malabsorption
• Hereditary fructose intolerance
• Hereditary galactokinase deficiency - See Galactokinase deficiency
• Hereditary gelsolin amyloidosis - See Familial amyloidosis, Finnish type
• Hereditary 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
• Hereditary hemorrhagic telangiectasia type 2
• Hereditary hemorrhagic telangiectasia type 3
• Hereditary hemorrhagic telangiectasia type 4
• Hereditary hyperekplexia
• Hereditary hyperferritinemia cataract syndrome - See Hyperferritinemia cataract syndrome
• Hereditary hyperparathyroidism-jaw tumor syndrome - See Hyperparathyroidism-jaw tumor syndrome
• Hereditary hyperphosphatasia - See Juvenile Paget disease
• 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 3 - See Inclusion body myopathy 3
• Hereditary inclusion body myopathy with early respiratory failure - See Hereditary proximal myopathy with early respiratory failure
• Hereditary iron overload and African Americans - See Bantu siderosis
• Hereditary iron-loading anemia - See X-linked sideroblastic anemia
• Hereditary koilonychia
• 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
• Hereditary methemoglobinemia due to hemoglobin mutation - See Methemoglobinemia, beta-globin type
• 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
• Hereditary motor and sensory neuropathy 1 - See Charcot-Marie-Tooth disease type 1
• Hereditary motor and sensory neuropathy 1A - See Charcot-Marie-Tooth disease type 1A
• Hereditary motor and sensory neuropathy 1B - See Charcot-Marie-Tooth disease
• Hereditary motor and sensory neuropathy 1D - See Charcot-Marie-Tooth disease
• 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
• 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 5
• Hereditary motor and sensory neuropathy type III - See Hypertrophic neuropathy of Dejerine-Sottas
• 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
• 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 Charcot-Marie-Tooth disease
• 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 multiple benign cystic epithelioma - See Multiple familial trichoepithelioma
• 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 and progressive distal muscular atrophy - See Jankovic Rivera syndrome
• Hereditary myopathy with early respiratory failure - See Hereditary proximal myopathy with early respiratory failure
• Hereditary myosin myopathies - Another name for Myosinopathies
• Hereditary neuralgic amyotrophy
• Hereditary neurocutaneous Angioma - See Angioma hereditary neurocutaneous
• Hereditary neuropathy with liability to pressure palsies
• Hereditary nodular heterotopia
• Hereditary nonpolyposis colorectal cancer - See Lynch syndrome - not a rare disease
• Hereditary orotic aciduria - See Orotic aciduria type 1
• Hereditary orotic aciduria without megaloblastic anemia - See Orotic aciduria type 1
• Hereditary palmoplantar keratoderma with deafness (subtype) - See Keratoderma palmoplantar deafness
• Hereditary pancreatic cancer - See Familial pancreatic cancer
• Hereditary pancreatic carcinoma - See Familial pancreatic cancer
• Hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease - See Yorifuji Okuno syndrome
• Hereditary pancreatitis
• Hereditary paraganglioma-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 prepubertal gynecomastia - See Aromatase excess syndrome
• Hereditary progressive dystonia with diurnal fluctuation - See Dopa-responsive dystonia
• Hereditary prosopagnosia - See Developmental prosopagnosia
• Hereditary prostate cancer - See Familial prostate cancer
• Hereditary proximal myopathy with early respiratory failure
• 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 amyloidosis - See Amyloidosis familial visceral
• Hereditary renal cell carcinoma
• Hereditary renal disease and preauricular pits - See Lachiewicz Sibley syndrome
• Hereditary resistance to activated protein C - See Factor V Leiden thrombophilia - not a rare disease
• Hereditary resistance to anti-vitamin K
• Hereditary sclerosing poikiloderma with tendon and pulmonary involvement - See Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
• Hereditary sensorimotor neuropathy with hyperelastic skin
• Hereditary sensory and autonomic neuropathy
• 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 due to TECPR2 mutation - See Autosomal recessive spastic paraplegia type 49
• Hereditary sensory and autonomic neuropathy type 1 - See Hereditary sensory neuropathy type 1
• Hereditary sensory and autonomic neuropathy type 1E
• Hereditary sensory and autonomic neuropathy type 2
• Hereditary sensory and autonomic neuropathy type 5 - See Hereditary sensory and autonomic neuropathy type V
• Hereditary sensory and autonomic neuropathy type 7
• Hereditary sensory and autonomic neuropathy type V
• Hereditary sensory and autonomic neuropathy type VII - See Hereditary sensory and autonomic neuropathy type 7
• Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction - See Hereditary sensory and autonomic neuropathy type 7
• Hereditary sensory and motor neuropathy type 4 - See Refsum disease
• Hereditary sensory autonomic neuropathy - See Hereditary sensory and autonomic neuropathy
• 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 - See Hereditary sensory and autonomic neuropathy type 1E
• Hereditary sensory neuropathy type IV - See Congenital insensitivity to pain with anhidrosis
• Hereditary sensory neuropathy with hearing loss and dementia - See Hereditary sensory and autonomic neuropathy type 1E
• Hereditary sensory neuropathy-deafness-dementia syndrome - See Hereditary sensory and autonomic neuropathy type 1E
• Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome - See Hereditary sensory and autonomic neuropathy type 1E
• 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 Hereditary spastic paraplegia
• Hereditary spastic paraplegia
• 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 thrombocytopenia with normal platelets-hematological cancer predisposition syndrome - See Familial platelet disorder with associated myeloid malignancy
• Hereditary thrombophilia due to congenital antithrombin 3 deficiency - See Hereditary antithrombin deficiency
• Hereditary thrombophilia due to congenital antithrombin deficiency - See Hereditary antithrombin deficiency
• Hereditary thrombophilia due to congenital protein C deficiency - See Autosomal recessive protein C deficiency
• Hereditary thrombophilia due to PC deficiency - See Autosomal recessive protein C deficiency
• Hereditary thymine-uraciluria - See Dihydropyrimidine dehydrogenase deficiency - not a rare disease
• Hereditary thyroglossal duct cysts - See Familial thyroglossal duct cyst
• Hereditary vascular retinopathy
• Hereditary vertical nystagmus - See Nystagmus, hereditary vertical
• Hereditary von Willebrand disease - See Von Willebrand disease - not a rare disease
• Hereditary whispering dysphonia - See DYT-TUBB4A
• Hereditary white nails - See Leukonychia totalis
• Hereditary woolly hair (autosomal dominant) - 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 - not a rare disease
• Heritable hypertrophic cardiomyopathy - See Familial hypertrophic cardiomyopathy
• Heritable pulmonary arterial hypertension - See Pulmonary arterial hypertension
• Herlitz-Pearson type epidermolysis bullosa - See Epidermolysis bullosa
• Hermansky Pudlak syndrome - See Hermansky-Pudlak syndrome
• Hermansky Pudlak syndrome 2
• Hermansky-Pudlak syndrome
• Hermansky-Pudlak syndrome 2 - See Hermansky Pudlak syndrome 2
• Hernández-Aguirre Negrete syndrome
• Hernia uteri inguinale - See Persistent Mullerian duct syndrome
• HERNS - See Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
• Herpes B virus infection - See Herpesvirus simiae B virus infection
• Herpes gestationis - See Pemphigoid gestationis
• Herpes iris, erythema multiforme type - See Erythema multiforme
• Herpes simiae (B virus)
• Herpes simplex encephalitis
• Herpes simplex meningo-encephalitis - See Herpes simplex encephalitis
• Herpes simplex neuroinvasion - See Herpes simplex encephalitis
• Herpes simplex virus encephalitis - See 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 infection
• Herpetic encephalitis - See Herpes simplex encephalitis
• Herrmann Opitz craniosynostosis
• Herrmann syndrome
• Hers disease - See Glycogen storage disease type 6
• Hersh Podruch Weisskopk syndrome
• HES - See Hypereosinophilic syndrome
• Heterochromia iridis - not a rare disease
• Heterotaxia - See Heterotaxy
• Heterotaxy
• Heterotaxy syndrome - See Heterotaxy
• 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
• 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
• HFE3 - See Hemochromatosis type 3
• HFE4 - See Hemochromatosis type 4
• HFE-associated hereditary hemochromatosis - See Hemochromatosis type 1 - not a rare disease
• 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
• HGPPS - See Horizontal gaze palsy with progressive scoliosis
• HGPS - See Progeria
• HGSNAT deficiency - See Mucopolysaccharidosis type IIIC
• HHC1 - See Familial hypocalciuric hypercalcemia type 1
• HHC2 - See Familial hypocalciuric hypercalcemia type 2
• HHC3 - See Familial hypocalciuric hypercalcemia type 3
• 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
• HHS - See Hyperostosis-hyperphosphatemia syndrome
• HHS - See Hypotrichosis simplex
• HHT - 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 Kaposi sarcoma
• Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type - See Galloway-Mowat syndrome
• HIBCH deficiency
• Hibernian fever, familial - See Tumor necrosis factor receptor-associated periodic syndrome
• HIBM - See Inclusion body myopathy 2
• HIBM3 - See Inclusion body myopathy 3
• HIBM-ERF - See Hereditary proximal myopathy with early respiratory failure
• Hiccups, intractable - See Chronic hiccups
• Hidradenitis suppurativa - not a rare disease
• Hidradenocarcinoma
• Hidradenoma - See Acrospiroma
• Hidrotic ectodermal dysplasia Halal type - See Halal Setton Wang syndrome
• Hidrotic ectodermal dysplasia, autosomal dominant - See Clouston syndrome
• 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 Deafness and myopia syndrome
• High red cell phosphatidylcholine hemolytic anemia - See Red cell phospholipid defect with hemolysis
• High scapula - See Sprengel deformity
• 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
• Hinson-Pepys disease - See Allergic bronchopulmonary aspergillosis
• Hip dysplasia Beukes type - See Beukes familial hip dysplasia
• Hip socket neuropathy - See Piriformis syndrome
• Hip subluxation
• Hirata disease - See Insulin autoimmune syndrome
• Hirayama disease - See Monomelic amyotrophy
• 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 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, deafness and polydactyly - See Santos Mateus Leal syndrome
• Hirschsprung nail hypoplasia dysmorphism
• Hirschsprung's disease
• Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features - See Al-Gazali-Donnai-Mueller syndrome
• Hirsutism skeletal dysplasia mental retardation syndrome - See Wiedemann Oldigs Oppermann syndrome
• Hirsutism-skeletal dysplasia-intellectual disability syndrome - See Wiedemann Oldigs Oppermann syndrome
• His bundle tachycardia
• HIS deficiency - See Histidinemia
• Histidase deficiency - See Histidinemia
• Histidine ammonia-lyase deficiency - See Histidinemia
• 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 - See Histiocytosis-lymphadenopathy plus syndrome
• Histiocytosis X - See Langerhans cell histiocytosis
• Histiocytosis, Non-Langerhans-Cell - See Non-Langerhans-Cell Histiocytosis
• Histiocytosis, sea-blue - See Sea-Blue histiocytosis
• Histiocytosis-lymphadenopathy plus syndrome
• HIT - See Heparin-induced thrombocytopenia
• HIVEP2-related intellectual disability
• HJCD - See Histiocytosis-lymphadenopathy plus syndrome
• HJMD - See Juvenile macular degeneration and hypotrichosis
• HLA class 1 deficiency - See Bare lymphocyte syndrome
• HLD5 - See Hypomyelination and congenital cataract
• HLD6 - See Hypomyelination with atrophy of basal ganglia and cerebellum
• HLH - See Familial 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
• HLRCC - See Hereditary leiomyomatosis and renal cell cancer
• HLS - See Hydrolethalus syndrome
• HLTS - See Hypotrichosis-lymphedema-telangiectasia syndrome
• HMBS deficiency - See Acute intermittent porphyria
• HMC syndrome - See Bixler Christian Gorlin syndrome
• HMCS - See McKusick Kaufman syndrome
• HME - See Human monocytic ehrlichiosis
• HMERF - See Hereditary proximal myopathy with early respiratory failure
• HMERF-ERF - See Hereditary proximal myopathy with early respiratory failure
• 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 - Another name for Hereditary motor and sensory neuropathy
• HMSN 1A - See Charcot-Marie-Tooth disease type 1A
• HMSN 1B - See Charcot-Marie-Tooth disease
• HMSN 1D - See Charcot-Marie-Tooth disease
• HMSN 2 C - See Charcot-Marie-Tooth disease
• 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 III - See Hypertrophic neuropathy of Dejerine-Sottas
• HMSN, X-linked - See Charcot-Marie-Tooth disease
• HMSN/ACC - See Andermann syndrome
• HMSN1 - See Charcot-Marie-Tooth disease type 1
• HMSN2 with giant axons - See Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
• HMSN3 - See Hypertrophic neuropathy of Dejerine-Sottas
• HMSNL - See Charcot-Marie-Tooth disease
• 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
• HNPCC - See Lynch syndrome - not a rare disease
• HNPP - See Hereditary neuropathy with liability to pressure palsies
• HNRNPH2 deficiency - See Bain type of X-linked syndromic intellectual disability
• HNSCC - See Squamous cell carcinoma of the head and neck - not a rare disease
• HNT - See Hairy nose tip
• Ho Kaufman Mcalister syndrome
• HOD - See Hypertrophic olivary degeneration
• Hodgkin disease - See Hodgkin lymphoma
• Hodgkin disease, X-linked pseudoautosomal
• Hodgkin lymphoma
• Hodgkin's lymphoma - See Hodgkin lymphoma
• Hoepffner dreyer reimers syndrome - See Peptidic growth factors deficiency
• Hoepffner-Dreyer-Reimers syndrome - Another name for Lipodystrophy due to 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 Collins syndrome - See Tibia absent polydactyly arachnoid cyst
• Holmes-Adie syndrome - See Adie syndrome
• Holoacardius amorphus
• Holocarboxylase synthetase deficiency
• Holoprosencephaly
• 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
• HOMG1 - See Primary hypomagnesemia with secondary hypocalcemia
• HOMG2 - See Renal hypomagnesemia 2
• 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 MTHFR deficiency
• HOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDED - See Methylmalonic acidemia with homocystinuria type cblD
• Homocystinuria-megaloblastic anemia, cblG complementation type - See Methylcobalamin deficiency cbl G type
• 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 Abetalipoproteinemia
• Honeycomb atrophy - See Atrophoderma vermiculata
• HOOE - See Dementia, familial Danish
• Hooft disease
• Hookworm infection - See Ancylostomiasis
• Hordnes Engebretsen Knudtson syndrome
• Horizontal gaze palsy with progressive scoliosis
• Horn Kolb syndrome
• Horner's syndrome
• Hornova Dlushosova syndrome - See Amyloidosis of gingiva and conjunctiva with intellectual disability
• Hornstein-Knickenberg syndrome - See Birt-Hogg-Dube syndrome
• Horseshoe kidney - not a rare disease
• 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
• Houston-Harris achondrogenesis - See Achondrogenesis
• Howel-Evans syndrome - See Tylosis with esophageal cancer
• Howell-Evans syndrome - See Tylosis with esophageal cancer
• Hoyeraal Hreidarsson syndrome
• Hozay’s syndrome - See Van Bogaert-Hozay syndrome
• HP - See Hypersensitivity pneumonitis
• HP1 - See Primary hyperoxaluria type 1
• HP2 - See Primary hyperoxaluria type 2
• HPCHA - See Red cell phospholipid defect with hemolysis
• HPD with diurnal fluctuation - See Dopa-responsive dystonia
• HPDR - See X-linked hypophosphatemia
• HPE - See Holoprosencephaly
• HPLH2 - See Hemophagocytic lymphohistiocytosis, familial, 2
• HPLH3 - See Hemophagocytic lymphohistiocytosis, familial, 3
• HPLH4 - See Hemophagocytic lymphohistiocytosis, familial, 4
• HPRT deficiency, complete - See Lesch Nyhan syndrome
• HPS - See Hermansky-Pudlak syndrome
• HPS - See Hantavirus pulmonary syndrome
• HPS2 - See Hermansky Pudlak syndrome 2
• HPT-JT - See Hyperparathyroidism-jaw tumor syndrome
• HRD syndrome - See Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• HRPT1 - See Familial isolated hyperparathyroidism
• HRPT2 - See Hyperparathyroidism-jaw tumor syndrome
• HRS - See Ramer Ladda syndrome
• HRZ - See Palmoplantar keratoderma-sclerodactyly syndrome
• HSAN - See Hereditary sensory and autonomic neuropathy
• HSAN 1 - See Hereditary sensory neuropathy type 1
• HSAN 3 - See Familial dysautonomia
• HSAN 4 - See Congenital insensitivity to pain with anhidrosis
• HSAN due to TECPR2 mutation - See Autosomal recessive spastic paraplegia type 49
• HSAN IV - See Congenital insensitivity to pain with anhidrosis
• HSAN V - See Hereditary sensory and autonomic neuropathy type V
• HSAN with hyperhidrosis and gastrointestinal dysfunction - See Hereditary sensory and autonomic neuropathy type 7
• HSAN1E - See Hereditary sensory and autonomic neuropathy type 1E
• HSAN2 - See Hereditary sensory and autonomic neuropathy type 2
• HSAN5 - See Hereditary sensory and autonomic neuropathy type V
• HSAN7 - See Hereditary sensory and autonomic neuropathy type 7
• 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
• HSE - See Herpes simplex encephalitis
• HSES - See Hemorrhagic shock and encephalopathy syndrome
• HSH - See Primary hypomagnesemia with secondary hypocalcemia
• HSN 3 - See Familial dysautonomia
• HSN1 - See Hereditary sensory neuropathy type 1
• HSN1E - See Hereditary sensory and autonomic neuropathy type 1E
• HSNAN4 - See Congenital insensitivity to pain with anhidrosis
• HSNIE - See Hereditary sensory and autonomic neuropathy type 1E
• HSP - See Hereditary spastic paraplegia
• HSRV infection - See Human spumaretrovirus infection
• HSS - See Hallermann-Streiff syndrome
• HSV encephalitis - See Herpes simplex encephalitis
• HSVE - See Herpes simplex encephalitis
• HTC 1 - See Ambras syndrome
• HTC2 - See X-linked congenital generalized hypertrichosis
• 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 - not a rare disease
• 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 granulocytic ehrlichiosis
• Human Herpesvirus 6 encephalitis - See HHV-6 encephalitis
• Human herpesvirus 8 - See 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
• Humeroradioulnar synostosis
• Hunt syndrome (formerly) - See Herpes zoster oticus
• Hunter Carpenter Macdonald syndrome
• Hunter Mcdonald syndrome
• Hunter syndrome - See Mucopolysaccharidosis type II
• Hunter Thompson Reed syndrome - See Night blindness-skeletal anomalies-dysmorphism syndrome
• Hunter-mcalpine craniosynostosis - See Hunter-McAlpine syndrome
• Hunter-mcalpine craniosynostosis syndrome - See Hunter-McAlpine syndrome
• Hunter-McAlpine syndrome
• Hunter-Thompson-Reed syndrome - See Night blindness-skeletal anomalies-dysmorphism syndrome
• Huntington disease
• Huntington disease, juvenile onset - See Juvenile Huntington disease
• Huntington's chorea - See Huntington disease
• Huntington's disease - See Huntington disease
• Hunt's syndrome (formerly) - See Herpes zoster oticus
• Huriez syndrome - See Palmoplantar keratoderma-sclerodactyly syndrome
• Hurler disease - See Hurler syndrome
• Hurler syndrome
• Hurler syndrome (subtype) - See Mucopolysaccharidosis type I
• Hurler-Scheie syndrome - See Hurler–Scheie syndrome
• Hurler–Scheie syndrome
• Hurler-Scheie syndrome (subtype) - See Mucopolysaccharidosis type I
• 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
• Hutchison melanotic freckle - See Lentigo maligna melanoma
• Hutterite cerebroosteonephrodysplasia syndrome
• HV - See Hydroa vacciniforme
• HVDAS - See ADNP syndrome
• HVR - See Hereditary vascular retinopathy
• Hyaline body myopathy - See Myosin storage myopathy
• Hyaline fibromatosis syndrome
• Hyaline membrane disease - See Respiratory distress syndrome, infant
• Hyalinosis cutis et mucosae - See Lipoid proteinosis of Urbach and Wiethe
• Hyaloideoretinal degeneration of Wagner - See Wagner syndrome
• Hybrid acute leukemia - See Acute leukemia of ambiguous lineage
• HYCX - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
• Hydatid mole - See Hydatidiform mole
• Hydatidiform mole
• Hydatidosis
• Hyde Forster Mccarthy Berry syndrome - See X-linked intellectual disability-plagiocephaly syndrome
• HYDM - See Hydatidiform mole
• Hydranencephaly
• Hydranencephaly and microcephaly - See Microhydranencephaly
• Hydranencephaly with abnormal genitalia - See X-linked lissencephaly with abnormal genitalia
• Hydroa vacciniforme
• Hydroa vacciniforme, familial
• Hydroanencephaly - See Hydranencephaly
• Hydrocepalus with associated malformations - See Growth retardation hydrocephaly lung hypoplasia
• Hydrocephalus - See Congenital hydrocephalus
• Hydrocephalus autosomal recessive
• Hydrocephalus blue sclera nephropathy - See Daentl Towsend Siegel syndrome
• Hydrocephalus cataract microphthalmos - See Cennamo Gangemi syndrome
• Hydrocephalus due to congenital stenosis of aqueduct of sylvius
• 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, 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-cleft palate-joint contractures syndrome
• Hydrocephaly - See Congenital hydrocephalus
• Hydrocephaly - low insertion umbilicus - See Palmer Pagon syndrome
• Hydrocephaly - tall stature - joint laxity - See Daish Hardman Lamont syndrome
• Hydrolethalus syndrome
• Hydrometrocolpos syndrome - See McKusick Kaufman syndrome
• Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation - See McKusick Kaufman syndrome
• Hydronephrosis due to PUJO - See Multicystic renal dysplasia, bilateral
• Hydronephrosis with peculiar facial expression - See Ochoa syndrome
• Hydrops fetalis
• Hydrops fetalis nonimmune - See Hydrops fetalis
• Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia - See Greenberg dysplasia
• Hydrops, ectrodactyly, syndactyly, duplication of the great toes - See Landy-Donnai syndrome
• Hydrops-ectopic calcification-motheaten syndrome - See Greenberg dysplasia
• 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
• Hygroma cervicis - See Hygroma cervical
• Hymenolepiasis
• Hymenolepsis infection - See Hymenolepiasis
• 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 carbonic anhydrase VA deficiency - See Carbonic anhydrase VA deficiency
• Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency - See N-acetylglutamate synthase deficiency
• Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - See Carbonic anhydrase VA deficiency
• Hyperandrogenic, insulin-resistant acanthosis nigricans syndrome - See HAIR-AN syndrome - not a rare disease
• Hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN) - See HAIR-AN syndrome - not a rare disease
• Hyperargininemia - See Arginase deficiency
• Hyperbetaalaninemia
• Hyper-beta-alaninemia - See Hyperbetaalaninemia
• Hyperbilirubinemia 2 - See Dubin-Johnson syndrome
• Hyperbilirubinemia Arias type - See Gilbert syndrome - not a rare disease
• Hyperbilirubinemia transient familial neonatal
• Hyperbilirubinemia type 1 - See Gilbert syndrome - not a rare disease
• Hyperbilirubinemia type 2
• Hyperbilirubinemia, Rotor type - See Rotor syndrome
• Hyperbilirubinemic encephalopathy - See Kernicterus
• 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
• Hyperchylomicronemia late onset - See Hyperlipoproteinemia type 5
• Hyperchylomicronemia with hyperprebetalipoproteinemia, familial - See Hyperlipoproteinemia type 5
• Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• Hypercontractile esophagus - See Jackhammer esophagus
• Hypercortisolism - See Cushing's syndrome
• Hyperdactyly - See Polydactyly
• Hypereosinophilic syndrome
• Hypereosinophilic syndrome, idiopathic - See Hypereosinophilic syndrome
• Hyperexplexia hereditary - See Hereditary hyperekplexia
• Hyperferritinemia cataract syndrome
• Hyperfibrinolysis due to PAI1 deficiency - See Plasminogen activator inhibitor type 1 deficiency
• 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
• 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-IgG4 disease - See IgG4-related disease
• Hyperimidodipeptiduria - See Prolidase deficiency
• 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
• Hyperimmunoglobulinemia D and periodic fever syndrome - See Hyper-IgD syndrome
• Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia - See Congenital hyperinsulinism
• Hyperinsulinemic hypoglycemia exercise-induced - See Exercise-induced hyperinsulinemic hypoglycemia
• Hyperinsulinemic hypoglycemia familial - See Congenital 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 Congenital hyperinsulinism
• Hyperinsulinism due to glucokinase deficiency
• Hyperinsulinism due to glutamodehydrogenase deficiency
• Hyperinsulinism familial with pancreatic nesidioblastosis - See Congenital hyperinsulinism
• Hyperinsulinism hyperammonemia syndrome - See Hyperinsulinism-hyperammonemia syndrome
• Hyperinsulinism, diffuse
• Hyperinsulinism-hyperammonemia syndrome
• Hyperkalemic periodic paralysis
• Hyperkeratosis follicularis et parafollicularis in cutem penetrans - See Kyrle disease
• Hyperkeratosis lenticularis perstans
• Hyperkeratosis lenticularis perstans of Flegel - See Hyperkeratosis lenticularis perstans
• Hyperkeratosis palmoplantar localized epidermolytic - See Epidermolytic palmoplantar keratoderma
• Hyperkeratosis palmoplantaris with periodontosis - See Papillon Lefevre syndrome
• Hyperkeratosis-contracture syndrome - See Tight skin contracture syndrome, lethal
• Hyperlipemia combined fat and carbohydrate-induced - See Hyperlipoproteinemia type 5
• Hyperlipemia mixed - See Hyperlipoproteinemia type 5
• Hyperlipidemia due to hepatic lipase deficiency - See Hepatic lipase deficiency
• Hyperlipidemia due to hepatic triacylglycerol lipase deficiency - See Hepatic lipase deficiency
• Hyperlipidemia due to hepatic triglyceride lipase deficiency - See Hepatic lipase deficiency
• Hyperlipidemia due to HL deficiency - See Hepatic lipase deficiency
• Hyperlipidemia due to HTGL deficiency - See Hepatic lipase deficiency
• Hyperlipidemia type 3
• Hyperlipidemia type V - See Hyperlipoproteinemia type 5
• Hyperlipoproteinemia type 3 - See Hyperlipidemia type 3
• Hyperlipoproteinemia type 4
• Hyperlipoproteinemia type 5
• Hyperlipoproteinemia type IIA - See Familial hypercholesterolemia - not a rare disease
• Hyperlipoproteinemia type III - See Hyperlipidemia type 3
• Hyperlipoproteinemia type V - See Hyperlipoproteinemia type 5
• Hyperlipoproteinemia, type 2 A - See Autosomal dominant type B hypercholesterolemia - not a rare disease
• Hyperlipoproteinemia, type Ib - See Apolipoprotein C-II deficiency
• HYPERLIPOPROTEINEMIA, TYPE II - See Familial hypercholesterolemia - not a rare disease
• Hyper-low density-lipoproteinemia - See Familial hypercholesterolemia - not a rare disease
• Hyperlysinemia
• Hypermanganesemia with dystonia polycythemia and cirrhosis
• Hypermethioninemia due to glycine N-methyltransferase deficiency - See Glycine N-methyltransferase deficiency
• Hypermethioninemia due to GNMT deficiency - See Glycine N-methyltransferase deficiency
• Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
• Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase - See Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
• Hypermobile EDS - See Hypermobile Ehlers-Danlos syndrome
• Hypermobile Ehlers-Danlos syndrome
• Hypernychthemeral syndrome - See Non 24 hour sleep wake disorder
• Hyperornithinemia - See Gyrate atrophy of choroid and retina
• Hyperornithinemia with gyrate atrophy of choroid and retina - See Gyrate atrophy of choroid and retina
• Hyperornithinemia-gyrate atrophy of choroid and retina syndrome - See Gyrate atrophy of choroid and retina
• Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - See Ornithine translocase deficiency syndrome
• Hyperostosid corticalis deformans juvenilis - See Juvenile Paget disease
• Hyperostosis corticalis deformans juvenilis - See Juvenile Paget disease
• Hyperostosis corticalis generalisata
• Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus - See Worth type autosomal dominant osteosclerosis
• Hyperostosis frontalis interna, obesity, shortness and cognitive impairment - See Morgagni-Stewart-Morel syndrome
• Hyperostosis generalisata with striations - See Osteopathia striata cranial sclerosis
• 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, primary - See Primary hyperparathyroidism
• Hyperparathyroidism-jaw tumor syndrome
• Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome - See Catel Manzke syndrome
• 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-pyruvoyl-tetrahydropterin synthase deficiency - See 6-pyruvoyl-tetrahydropterin synthase deficiency
• Hyperphenylalaninemia due to BH4 deficiency - See Tetrahydrobiopterin deficiency
• Hyperphenylalaninemia due to dehydratase deficiency
• Hyperphenylalaninemia due to dihydropteridine reductase deficiency - See Dihydropteridine reductase deficiency
• Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency - See Hyperphenylalaninemia due to dehydratase deficiency
• Hyperphenylalaninemia due to tetrahydrobiopterin deficiency - See Tetrahydrobiopterin 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 Juvenile Paget disease
• Hyperphosphatasia, familial idiopathic - See Juvenile Paget disease
• Hyperphosphatemic familial tumoral calcinosis
• Hyperpotassemia and hypertension familial - See Pseudohypoaldosteronism type 2
• Hyperprolactinaemia - See Galactorrhoea-Hyperprolactinaemia
• Hyperprolinemia
• Hyperprolinemia type 1 - See Hyperprolinemia
• Hyperprolinemia type 2 - See Hyperprolinemia type 2
• 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-related thrombophilia
• Hyperpyrexia malignant - See Malignant hyperthermia
• Hyperpyrexia, malignant - See Malignant hyperthermia susceptibility type 1
• Hypersarcosinemia - See Sarcosinemia
• Hypersecretion of adrenal androgens, familial - See Familial hypersecretion of adrenal androgens
• Hypersensitivity angiitis - See Hypersensitivity vasculitis
• Hypersensitivity pneumonitis - See Hypersensitivity pneumonitis
• Hypersensitivity pneumonitis
• Hypersensitivity vasculitis
• 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 Brachycephalofrontonasal dysplasia
• Hypertension, Portal - See Portal hypertension - not a rare disease
• Hyperthermia induced defects
• Hyperthermia of anesthesia - See Malignant hyperthermia susceptibility type 1
• Hyperthyroxinemia, eumetabolic, due to T4 plasma membrane transport - See Thyroid hormone plasma membrane transport defect
• Hypertrichosis atrophic skin ectropion macrostomia - See Barber Say syndrome
• Hypertrichosis congenital generalized X-linked - See X-linked congenital generalized hypertrichosis
• Hypertrichosis cubiti - See Hairy elbows
• Hypertrichosis lanuginosa congenita - See Hypertrichosis universalis
• 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
• Hypertrichosis universalis congenita Ambras type - See Ambras syndrome
• 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
• Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome - See Wiedemann-Steiner syndrome
• Hypertrichotic osteochondrodysplasia - See Cantu syndrome
• Hypertrophic branchial myopathy
• Hypertrophic gastropathy - See Menetrier disease
• Hypertrophic neuropathy of Dejerine-Sottas
• Hypertrophic neuropathy of infancy - See Hypertrophic neuropathy of Dejerine-Sottas
• Hypertrophic neuropathy of Refsum - See Refsum disease
• Hypertrophic olivary degeneration
• Hypertrophy and asymmetry of the facial muscles - See Hemifacial myohyperplasia
• Hypertryptophanemia
• Hyperuricemic nephropathy, familial juvenile 2 - See Autosomal dominant tubulointerstitial kidney disease due to REN mutations
• Hyperuricemic nephropathy, familial juvenile, atypical - See Maturity-onset diabetes of the young
• Hypervalinemia - See Valinemia
• Hypnic headache
• 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
• 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
• Hypodermitis sclerodermaformis - See Lipodermatosclerosis
• Hypodermyasis
• Hypodontia - dysplasia of nails - See Witkop syndrome
• 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-hypodactylia syndrome - See Hanhart syndrome
• Hypoglycemia hyperinsulinemic of infancy - See Congenital 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 cataract syndrome - See Lubinsky syndrome
• Hypogonadism primary partial alopecia
• Hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities - See Woodhouse Sakati syndrome
• Hypogonadism, isolated, hypogonadotropic
• Hypogonadotropic hypogonadism alopecia - See Slti Salem syndrome
• Hypogonadotropic hypogonadism and anosmia - See Kallmann syndrome
• 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
• Hypokinetic dilated cardiomyopathy, familial - See Familial dilated cardiomyopathy
• Hypolipoproteinemia
• Hypomagnesemia caused by selective magnesium malabsorption - See Primary hypomagnesemia with secondary hypocalcemia
• Hypomagnesemia intestinal type 1 - See Primary hypomagnesemia with secondary hypocalcemia
• Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria - See Gitelman syndrome
• Hypomagnesemic tetany - See Primary hypomagnesemia with secondary hypocalcemia
• 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
• Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism - See POLR3-Related Leukodystrophy
• 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
• Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome - See POLR3-Related Leukodystrophy
• Hypoparathyroidism
• Hypoparathyroidism familial isolated
• Hypoparathyroidism lymphedema syndrome - See Dahlberg Borer Newcomer syndrome
• Hypoparathyroidism with short stature, intellectual disability and seizures - See Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• Hypoparathyroidism X-linked
• Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay - See Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• Hypoparathyroidism, idiopathic (subtype) - See Hypoparathyroidism
• Hypoparathyroidism, sensorineural deafness, and renal dysplasia - See Barakat syndrome
• Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• Hypoparathyroidism-short stature-intellectual disability-seizures syndrome - See Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• Hypopharyngeal cancer
• Hypophophatemia, X-linked - See X-linked hypophosphatemia
• Hypophophatemic vitamin D-resistant rickets - See X-linked hypophosphatemia
• Hypophosphatasia
• Hypophosphatasia mild - See Hypophosphatasia
• Hypophosphatemic rickets
• Hypophosphatemic rickets, X-linked dominant - See X-linked hypophosphatemia
• Hypopigmentation - See Hypomelanotic disorder
• Hypopigmentation oculocerebral syndrome Cross type - See Oculocerebral syndrome with hypopigmentation
• Hypopigmentation/deafness of Tietz - See Tietz syndrome
• Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome - See Griscelli syndrome type 2
• Hypopituitarism
• Hypopituitarism and septooptic 'dysplasia' - See Septo-optic dysplasia spectrum
• 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 left heart syndrome
• Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder 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
• HypoPP - See Hypokalemic periodic paralysis
• Hypoproconvertinemia - See Factor VII deficiency
• Hypoprothrombinemia, inherited - See Prothrombin deficiency
• Hypospadias familial
• Hypospadias intellectual deficit Goldblatt type - See Hypospadias-intellectual disability, Goldblatt type syndrome
• Hypospadias mental retardation syndrome (formerly) - See Hypospadias-intellectual disability, Goldblatt type syndrome
• Hypospadias-dysphagia, syndrome - See Opitz G/BBB syndrome
• Hypospadias-intellectual disability, Goldblatt type syndrome
• Hypotelorism cleft palate hypospadias
• Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - See Pallister-Hall syndrome
• Hypothalamic hamartomas
• Hypothalamic obesity
• Hypothyroidism cleft palate Hypothyroidism, athyroidal, with spiky hair and cleft palate - See Bamforth syndrome
• Hypothyroidism due to iodide transport defect
• Hypotonia and ichthyosis due to dolichol phosphate deficiency - See DOLK-CDG (CDG-Im)
• Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
• Hypotonia, obesity, and prominent incisors - See Cohen syndrome
• Hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion - See Qazi Markouizos syndrome
• Hypotrichosis associated with congenital hypoplasia of the thumb - See Thumb deformity, alopecia, pigmentation anomaly
• Hypotrichosis lymphedema telangiectasia syndrome - See Hypotrichosis-lymphedema-telangiectasia syndrome
• Hypotrichosis simplex
• Hypotrichosis, congenital, with juvenile macular dystrophy - See Juvenile macular degeneration and hypotrichosis
• Hypotrichosis, Marie Unna type - See Marie Unna congenital hypotrichosis
• Hypotrichosis-lymphedema-telangiectasia syndrome
• Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome - See Hypotrichosis-lymphedema-telangiectasia syndrome
• Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome - See Hypotrichosis-lymphedema-telangiectasia syndrome
• Hypouricemia, renal - See Renal hypouricemia
• Hypovitaminosis D - See Rickets
• Hypoxanthine guanine phosphoribosyltransferase deficiency
• Hypoxanthine-guanine phosphoribosyltransferase deficiency - See Lesch Nyhan syndrome
• Hypoxia neonatorum - See Asphyxia neonatorum
• HYPP - See Hyperkalemic periodic paralysis
• HZO - See Herpes zoster ophthalmicus