Browse A-Z

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
HD- Westphal variant - See Westphal disease
HDDD - See Frontotemporal dementia, ubiquitin-positive
HDGC - See Hereditary diffuse gastric cancer
Hdl lipoprotein deficiency disease - See Tangier disease
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 - 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 palmitoyl transferase 1 deficiency
Hepatic carnitine palmitoyl transferase I deficiency - See Carnitine palmitoyltransferase I deficiency , muscle
Hepatic carnitine palmitoyltransferase 1 deficiency - See Carnitine palmitoyl transferase 1 deficiency
Hepatic CPT1 - See Carnitine palmitoyl transferase 1 deficiency
Hepatic cystic hamartoma
Hepatic ductular hypoplasia - See Alagille syndrome
Hepatic encephalopathy
Hepatic 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 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 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 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 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 Muscular dystrophy
Hereditary iron overload and African Americans - See Bantu siderosis
Hereditary iron-loading anemia - See X-linked sideroblastic anemia
Hereditary koilonychia
Hereditary leiomyomatosis and renal cell cancer
Hereditary lymphedema - See Milroy disease
Hereditary lymphedema 1 - See Milroy disease
Hereditary lymphedema type I - See Milroy disease
Hereditary lymphedema type II
Hereditary lymphedema-distichiasis syndrome (subtype) - See Lymphedema-distichiasis syndrome
Hereditary macular coloboma (subtype) - See Coloboma of macula
Hereditary methemoglobinemia
Hereditary methemoglobinemia due to hemoglobin mutation - See Methemoglobinemia, beta-globin type
Hereditary microcornea, glaucoma, and absent frontal sinuses - See Microcornea, glaucoma, and absent frontal sinuses
Hereditary motor and sensory neuropathy - See Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy
Hereditary motor and sensory neuropathy 1 - See Charcot-Marie-Tooth disease type 1
Hereditary motor and sensory neuropathy 1A - See Charcot-Marie-Tooth disease type 1A
Hereditary motor and sensory neuropathy 1B - See Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy 1D - See Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy 2 A - See Charcot-Marie-Tooth disease type 2A
Hereditary motor and sensory neuropathy 2 B (HMSN 2 B) - See Charcot-Marie-Tooth disease type 2B
Hereditary motor and sensory neuropathy 2 C - See Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy 3 - See Hypertrophic neuropathy of Dejerine-Sottas
Hereditary motor and sensory neuropathy 5 - See Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy type 1 - See Charcot-Marie-Tooth disease type 1
Hereditary motor and sensory neuropathy type 2 - See Charcot-Marie-Tooth disease type 2
Hereditary motor and sensory neuropathy type 3 - See Hypertrophic neuropathy of Dejerine-Sottas
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy type III - See Hypertrophic neuropathy of Dejerine-Sottas
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum - See Andermann syndrome
Hereditary motor and sensory neuropathy, LOM type - See Charcot-Marie-Tooth disease
HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE - See Neuropathy, hereditary motor and sensory, Okinawa type
Hereditary motor and sensory neuropathy, Russe type - See Neuropathy, hereditary motor and sensory, Russe type
Hereditary motor and sensory neuropathy, X-linked - See Charcot-Marie-Tooth disease
Hereditary motor neuropathy, Jerash type - See Neuropathy, distal hereditary motor, Jerash type
Hereditary Motor Sensory Neuropathy I - See Roussy Levy syndrome
Hereditary mucoepithelial dysplasia
Hereditary multiple benign cystic epithelioma - See Multiple familial trichoepithelioma
Hereditary multiple diaphyseal sclerosis - See Ribbing disease
Hereditary multiple exostoses - See Hereditary multiple osteochondromas
Hereditary multiple exostosis - See Hereditary multiple osteochondromas
Hereditary multiple osteochondromas
Hereditary multiple trichodiscomas - See Familial multiple trichodiscomas
Hereditary myoclonus and progressive distal muscular atrophy - See Jankovic Rivera syndrome
Hereditary myopathy with 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 palsy
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 - See Herrmann syndrome
Hereditary polyposis coli - See Familial adenomatous polyposis
Hereditary prepubertal gynecomastia - See Aromatase excess syndrome
Hereditary progressive dystonia with diurnal fluctuation - See Dopa-responsive dystonia
Hereditary prosopagnosia - See Developmental prosopagnosia
Hereditary prostate cancer - See Familial prostate cancer
Hereditary proximal myopathy with early respiratory failure - See Muscular dystrophy
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 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 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
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 Autosomal dominant torsion dystonia-4
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 Muscular dystrophy
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 - See Hirschsprung disease polydactyly heart disease
Hirschsprung disease, deafness and polydactyly - See Santos Mateus Leal syndrome
Hirschsprung microcephaly cleft palate
Hirschsprung nail hypoplasia dysmorphism
Hirschsprung's disease
Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly - See Laurence Prosser Rocker syndrome
Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect - See Laurence Prosser Rocker syndrome
Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features - See Al-Gazali-Donnai-Mueller syndrome
Hirsutism skeletal dysplasia mental retardation 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 Muscular dystrophy
HMERF-ERF - See Muscular dystrophy
HMG CoA lyase deficiency
HMG CoA synthetase deficiency
HMG-CoA lyase deficiency - See HMG CoA lyase deficiency
HMN VI - See Spinal muscular atrophy with respiratory distress 1
HMN6 - See Spinal muscular atrophy with respiratory distress 1
HMNJ - See Neuropathy, distal hereditary motor, Jerash type
HMO - See Hereditary multiple osteochondromas
HMS - See Haim-Munk syndrome
HMSN - See Charcot-Marie-Tooth disease
HMSN - Another name for Hereditary motor and sensory neuropathy
HMSN 1A - See Charcot-Marie-Tooth disease type 1A
HMSN 1B - See Charcot-Marie-Tooth disease
HMSN 1D - See Charcot-Marie-Tooth disease
HMSN 2 C - See Charcot-Marie-Tooth disease
HMSN 3 - See Hypertrophic neuropathy of Dejerine-Sottas
HMSN 4 - See Refsum disease
HMSN 5 - See Hereditary motor and sensory neuropathy type 5
HMSN I - See Roussy Levy syndrome
HMSN IIA - See Charcot-Marie-Tooth disease type 2A
HMSN III - See Hypertrophic neuropathy of Dejerine-Sottas
HMSN, X-linked - See Charcot-Marie-Tooth disease
HMSN/ACC - See Andermann syndrome
HMSN1 - See Charcot-Marie-Tooth disease type 1
HMSN2 with giant axons - See Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
HMSN3 - See Hypertrophic neuropathy of Dejerine-Sottas
HMSNL - See Charcot-Marie-Tooth disease
HMSNO - See Neuropathy, hereditary motor and sensory, Okinawa type
HMSNP - See Neuropathy, hereditary motor and sensory, Okinawa type
HMSNR - See Neuropathy, hereditary motor and sensory, Russe type
HMWK - See High molecular weight kininogen deficiency
HND - See Hartnup disease
HNPCC - See Lynch syndrome - not a rare disease
HNPP - See Hereditary neuropathy with liability to pressure palsy
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 type 1A
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 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
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 - See Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemic embryopathy - See Maternal hyperphenylalaninemia
Hyperphosphatasemia tarda - See Hyperostosis corticalis generalisata
Hyperphosphatasemia, chronic congenital idiopathic - See Juvenile Paget disease
Hyperphosphatasia, familial idiopathic - See Juvenile Paget disease
Hyperphosphatemic familial tumoral calcinosis
Hyperpotassemia and hypertension familial - See Pseudohypoaldosteronism type 2
Hyperprolactinaemia - See Galactorrhoea-Hyperprolactinaemia
Hyperprolinemia
Hyperprolinemia type 1 - See Hyperprolinemia
Hyperprolinemia type 2 - See Hyperprolinemia type 2
Hyperprolinemia type 2
Hyperprostaglandin E syndrome 1 - See Bartter syndrome antenatal type 1
Hyperprostaglandin E syndrome 2 - See Bartter syndrome antenatal type 2
Hyperprothrombinemia - See Prothrombin-related thrombophilia
Hyperpyrexia malignant - See Malignant hyperthermia
Hyperpyrexia, malignant - See Malignant hyperthermia susceptibility type 1
Hyper-reninism
Hypersarcosinemia - See Sarcosinemia
Hypersecretion of adrenal androgens, familial - See Familial hypersecretion of adrenal androgens
Hypersensitivity angiitis - See Hypersensitivity vasculitis
Hypersensitivity pneumonitis - See Hypersensitivity pneumonitis
Hypersensitivity pneumonitis
Hypersensitivity vasculitis
Hypertelorism and tetralogy of Fallot
Hypertelorism hypospadias polysyndactyly syndrome - See Naguib-Richieri-Costa syndrome
Hypertelorism hypospadias syndrome - See Opitz G/BBB syndrome
Hypertelorism microtia facial clefting syndrome - See Bixler Christian Gorlin syndrome
Hypertelorism with esophageal abnormality and hypospadias - See Opitz G/BBB syndrome
Hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies - See Seaver Cassidy syndrome
Hypertelorism, short midface, arachnodactyly, coloboma of Iris and delayed bone age - See Vagneur Triolle Ripert syndrome
Hypertelorism, Teebi type - See Brachycephalofrontonasal dysplasia
Hypertension, Portal - See Portal hypertension - not a rare disease
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 - See Hypertrichosis universalis
Hypertrichosis lanuginosa congenita
Hypertrichosis lanuginosa universalis - See Hypertrichosis lanuginosa congenita
Hypertrichosis lanuginosa, acquired
Hypertrichosis terminalis, generalized, with gingival hyperplasia - See Gingival fibromatosis with hypertrichosis
Hypertrichosis universalis - See Hypertrichosis lanuginosa congenita
Hypertrichosis universalis
Hypertrichosis universalis congenita Ambras type - See Ambras syndrome
Hypertrichosis, atrophic skin, ectropion, and macrostomia - See Barber Say syndrome
Hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy - See Cervical hypertrichosis peripheral neuropathy
Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome - See Wiedemann-Steiner syndrome
Hypertrichotic osteochondrodysplasia - See Cantu syndrome
Hypertrophic branchial myopathy
Hypertrophic gastropathy - See Menetrier disease
Hypertrophic 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 Autosomal dominant tubulointerstitial kidney disease (ADTKD) due to REN mutations
Hyperuricemic nephropathy, familial juvenile, atypical - See Maturity-onset diabetes of the young
Hypervalinemia - See Valinemia
Hypnic headache
Hypoadrenalism
Hypoadrenocorticism familial - See Addison's disease
Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis - See Autoimmune polyglandular syndrome type 1
Hypoaldosteronism
Hypoalphalipoproteinemia, familial - See Familial HDL deficiency
Hypoalphalipoproteinemia, primary - See Familial HDL deficiency
Hypoascorbemia - See Scurvy
Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells - See Chylomicron retention disease
Hypobetalipoproteinemia, familial - See Familial hypobetalipoproteinemia
Hypocalcemia, autosomal dominant
Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis - See Ameloonychohypohidrotic syndrome
Hypocalciuric hypercalcemia, familial, type 1 - See Familial hypocalciuric hypercalcemia type 1
Hypocalciuric hypercalcemia, familial, type 2 - See Familial hypocalciuric hypercalcemia type 2
Hypocalciuric hypercalcemia, familial, type 3 - See Familial hypocalciuric hypercalcemia type 3
Hypoceruloplasminemia - See Aceruloplasminemia
Hypochondroplasia
Hypochromic microcytic anemia with iron overload
Hypocomplementemic urticarial vasculitis
Hypodermitis sclerodermaformis - See Lipodermatosclerosis
Hypodermyasis
Hypodontia - dysplasia of nails - See Witkop syndrome
Hypodontia 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 - See Woodhouse 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
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
Hypoparathyroidism
Hypoparathyroidism familial isolated
Hypoparathyroidism lymphedema syndrome - See Dahlberg Borer Newcomer syndrome
Hypoparathyroidism with short stature, intellectual disability and seizures - See Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypoparathyroidism X-linked
Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay - See Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypoparathyroidism, idiopathic (subtype) - See Hypoparathyroidism
Hypoparathyroidism, sensorineural deafness, and renal dysplasia - See Barakat syndrome
Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypoparathyroidism-short stature-intellectual disability-seizures syndrome - See Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypopharyngeal cancer
Hypophophatemia, X-linked - See X-linked hypophosphatemia
Hypophophatemic vitamin D-resistant rickets - See X-linked hypophosphatemia
Hypophosphatasia
Hypophosphatasia mild - See Hypophosphatasia
Hypophosphatemic rickets
Hypophosphatemic rickets, X-linked dominant - See X-linked hypophosphatemia
Hypopigmentation - See Hypomelanotic disorder
Hypopigmentation oculocerebral syndrome Cross type - See Oculocerebral syndrome with hypopigmentation
Hypopigmentation/deafness of Tietz - See Tietz syndrome
Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome - See Griscelli syndrome type 2
Hypopituitarism
Hypopituitarism and septooptic 'dysplasia' - See Septo-optic dysplasia spectrum
Hypoplasia 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
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