Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program H/1 ENGLISH

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





H/1



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• 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
• 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
• 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 disease - not a rare disease
• Handigodu joint disease - See Handigodu disease - 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
• 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
• 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 defect, tongue hamartoma and polysyndactyly
• Heart defects and limb shortening - See Cardioskeletal syndrome Kuwaiti type
• 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 Clouston syndrome
• HED - See Hypohidrotic ectodermal dysplasia
• 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, congenital essential
• Hemeralopia, familial
• Hemeralopia-myopia - See X-linked congenital stationary night blindness
• Hemi 3 syndrome
• Hemicord syndrome - See Brown-Sequard syndrome
• Hemicrania continua
• Hemifacial atrophy agenesis of the caudate nucleus
• 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
• 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 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
• Henoch Schonlein purpura - See Henoch-Schonlein purpura
• Henoch-Schonlein purpura
• HEP - See Hepatoerythropoietic porphyria
• Hepadnavirus infection
• 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 1 deficiency
• 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 palmitoyl transferase I deficiency - See Carnitine palmitoyl transferase 1 deficiency
• 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 fructokinase deficiency - See 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 - See Hepatic veno-occlusive disease
• 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
• 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 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 hyperuricemia
• 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
• Hereditary motor and sensory neuropathy - See Charcot-Marie-Tooth disease
• 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 myopathy with intranuclear filamentous
• 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 anaemia
• 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 peripheral nervous disorder
• Hereditary pheochromocytoma-paraganglioma - See Hereditary paraganglioma-pheochromocytoma
• Hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction - SeeHerrmann 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 congenital protein C deficiency - See Protein C deficiency - not a rare disease
• Hereditary thrombophilia due to PC deficiency - See Autosomal recessive protein C deficiency
• Hereditary thrombophilia due to PC deficiency - See Protein C deficiency - not a rare disease
• Hereditary thrombophilia due to protein C deficiency - See Protein C deficiency - not a rare disease
• Hereditary thymine-uraciluria - See Dihydropyrimidine dehydrogenase deficiency - not a rare disease
• Hereditary thyroglossal duct cysts - See Familial thyroglossal duct cyst
• Hereditary type 1 neuropathy
• Hereditary type 2 neuropathy
• Hereditary vascular retinopathy
• Hereditary vertical nystagmus - See Nystagmus, hereditary vertical
• 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 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
• 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
• 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 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-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
• Hillig syndrome
• Hing Torack Dowston syndrome
• Hinson-Pepys disease - See Allergic bronchopulmonary aspergillosis
• Hip dysplasia Beukes type - See Beukes familial hip dysplasia
• Hip luxation
• 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 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 - SeeHirschsprung 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 - SeeLaurence Prosser Rocker syndrome
• Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect - SeeLaurence Prosser Rocker syndrome
• 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 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
• 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
• 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 - Another name for Hereditary motor and sensory neuropathy
• HMSN - See Charcot-Marie-Tooth disease
• 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 lymphoma, childhood
• Hodgkin lymphoma, during pregnancy
• 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 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
• Holoacardius amorphus
• Holocarboxylase synthetase deficiency
• Holoprosencephaly
• 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
• 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
• Hoon Hall syndrome
• 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
• Houlston Ironton Temple 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
• Hoyeraal-Hreidarsson syndrome - See Dyskeratosis congenita
• 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 - See Lesch Nyhan syndrome
• HPRT deficiency, complete - See Lesch Nyhan syndrome
• HPRT1 deficiency - 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 Macpherson syndrome
• Hunter Mcdonald syndrome
• Hunter Rudd Hoffmann 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
• 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
• Hutchison melanotic freckle - See Lentigo maligna melanoma
• Hutterite cerebroosteonephrodysplasia syndrome
• HV - See Hydroa vacciniforme
• 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
• Hyalinosis systemic short stature
• 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
• Hydrocephalus - See Congenital hydrocephalus
• Hydrocephalus autosomal recessive
• Hydrocephalus blue sclera nephropathy - See Daentl Towsend Siegel syndrome
• Hydrocephalus cataract microphthalmos - See Cennamo Gangemi 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, 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
• Hydrocephaly corpus callosum agenesis diaphragmatic hernia
• 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 peculiar facial expression
• Hydronephrosis with peculiar facial expression - See Ochoa syndrome
• 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 - 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
• 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, focal
• 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 of the palms and soles and esophageal papillomas - See Tylosis
• Hyperkeratosis palmoplantar localized epidermolytic - See Epidermolytic palmoplantar keratoderma
• Hyperkeratosis palmoplantaris with periodontosis - See Papillon Lefevre syndrome
• Hyperkeratosis, localized epidermolytic - See Palmoplantar keratoderma, epidermolytic
• 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 cortical infantile
• 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 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 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 - SeeHyperphenylalaninemia 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
• Hyper-reninism
• Hypersarcosinemia - See Sarcosinemia
• Hypersecretion of adrenal androgens, familial - See Familial hypersecretion of adrenal androgens
• Hypersensitivity angiitis - See Hypersensitivity vasculitis
• Hypersensitivity pneumonitis
• Hypersensitivity pneumonitis - See 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
• Hypertensive hypokalemia familial
• 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
• Hypertrichosis lanuginosa congenita - See Hypertrichosis universalis
• Hypertrichosis lanuginosa universalis - See Hypertrichosis lanuginosa congenita
• Hypertrichosis lanuginosa, acquired
• Hypertrichosis terminalis, generalized, with gingival hyperplasia - See Gingival fibromatosis with hypertrichosis
• Hypertrichosis universalis
• Hypertrichosis universalis - See Hypertrichosis lanuginosa congenita
• 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 hemangiectasia
• 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 REN-related autosomal dominant tubulointerstitial kidney disease
• 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 - SeeAmeloonychohypohidrotic 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 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-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 cardiomyopathy
• Hypogonadism cataract syndrome - See Lubinsky syndrome
• Hypogonadism primary partial alopecia
• Hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities - SeeWoodhouse Sakati syndrome
• Hypogonadism, isolated, hypogonadotropic
• Hypogonadotropic hypogonadism alopecia - See Slti Salem syndrome
• Hypogonadotropic hypogonadism and anosmia - See Kallmann 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 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 - SeeHypoparathyroidism-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 hepatic ductular
• 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 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
• Hypoprothrombinemia, inherited - See Prothrombin deficiency
• Hyporeninemic hypoaldosteronism
• Hyposmia nasal hypoplasia hypogonadism
• 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 dysfunction
• 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
• Hypotonic sclerotic muscular dystrophy
• 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 phospho-ribosyltransferase 1 deficiency - See Lesch Nyhan syndrome
• Hypoxanthine guanine phosphoribosyltransferase deficiency
• Hypoxia neonatorum - See Asphyxia neonatorum
• HYPP - See Hyperkalemic periodic paralysis
• HZO - See Herpes zoster ophthalmicus