- 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
sábado, 26 de enero de 2019
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
Suscribirse a:
Enviar comentarios (Atom)
No hay comentarios:
Publicar un comentario