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 1/2
- 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 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, 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 - See Hemorrhagic shock and encephalopathy syndrome
- 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
- Heparin-induced thrombocytopenia - See 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
- 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 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 Protein C deficiency - not a rare disease
- 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 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 Hypotrichosis simplex
- HHS - See Hyperostosis-hyperphosphatemia syndrome
- 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
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