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Rare Disease Database

Search Results for: H

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Hailey-Hailey Disease

Also known as: benign chronic familial pemphigus, benign chronic pemphigus, familial benign pemphigus, HHD

Haim-Munk Syndrome

Also known as: Cochin Jewish Disorder, HMS, Kera. Palmoplant. Con., Pes Planus, Ony., Periodon., Arach., Acroosteolysis, Keratosis Palmoplantaris with Periodontopathia and Onychogryposis

Hajdu Cheney Syndrome

Also known as: acro-dento-osteo-dysplasia, acroosteolysis dominant type, acroosteolysis with osteoporosis and changes in skull and mandible , arthrodentoosteodysplasia, Cheney syndrome, HCS, serpentine Fibula-Polycystic Kidney syndrome; SFPKS

Hallermann Streiff Syndrome

Also known as: Francois dyscephaly syndrome , Hallermann-Streiff-Francois syndrome, HSS, oculomandibulodyscephaly with hypotrichosis , oculomandibulofacial syndrome

Hanhart Syndrome

Also known as: aglossia-adactylia, hypoglossia-hypodactylia syndrome, peromelia with micrognathia

Hartnup Disease

Also known as: Hartnup disorder, Hartnup syndrome, pellagra-cerebellar ataxia-renal aminoaciduria syndrome

Hashimoto Encephalopathy

Also known as: HE, steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT)

Heavy Metal Poisoning

Also known as: Heavy Metal Toxicity
Subdivisions: Aluminum Poisoning, Antimony Poisoning, Arsenic Poisoning, Barium Poisoning, Bismuth Poisoning, Cadmium Poisoning, Chromium Poisoning, Cobalt Poisoning, Copper Poisoning, Gold Poisoning, Iron Poisoning, Lead Poisoning, Lithium Poisoning, Manganese Poisoning, Mercury Poisoning, Nickel Poisoning, Phosphorous Poisoning, Platinum Poisoning, Selenium Poisoning, Silver Poisoning, Thallium Poisoning, Tin Poisoning, Zinc Poisoning

Hemiplegic Migraine

Also known as: familial hemiplegic migraine, sporadic hemiplegic migraine
Subdivisions: familial hemiplegic migraine type 1, familial hemiplegic migraine type 2, familial hemiplegic migraine type 3

Hemophagocytic Lymphohistiocytosis

Also known as: hemophagocytic syndrome, HLH
Subdivisions: familial hemophagocytic lymphohistiocytosis (FHL), familial erythrophagocytic lymphohistiocytosis, primary hemophagocytic lymphohistiocytosis, secondary hemophagocytic lymphohistiocytosis, macrophage activation syndrome

Hemophilia A

Also known as: classical hemophilia, factor VIII deficiency, haemophilia A

Hemophilia B

Also known as: Christmas disease, factor IX deficiency, royal disease

Henoch-Schönlein Purpura

Also known as: Allergic Purpura, Allergic Vasculitis, Anaphylactoid Purpura, Hemorrhagic Capillary Toxicosis, HSP, Leukocytoclastic Vasculitis, Nonthrombocytopenic Idiopathic Purpura, Peliosis Rheumatica, Rheumatic Purpura, Schonlein-Henoch Purpura, vascular purpura
Subdivisions: Henoch's Purpura, Schonlein's Purpura

Hepatitis D

Also known as: HDV, hepatitis D virus, hepatitis delta, delta hepatitis, delta infection

Hereditary Angioedema

Also known as: angioneurotic edema, hereditary, C1-INH, C1NH, complement component 1 inhibitor deficiency, complement component C1, regulatory component deficiency, esterase inhibitor deficiency, HAE, HANE
Subdivisions: C1 esterase inhibitor deficiency, type I, angioedema, C1 esterase inhibitor dysfunction, type II, angioedema

Hereditary Hemorrhagic Telangiectasia

Also known as: HHT, Osler-Weber Rendu syndrome, Rendu-Osler-Weber syndrome
Subdivisions: hereditary hemorrhagic telangiectasia type 1, hereditary hemorrhagic telangiectasia type 2, juvenile polyposis-hereditary hemorrhagic telangiectasia (JPHT or JPHHT) overlap syndrome

Hereditary Hyperphosphatasia

Also known as: chronic congenital idiopathic hyperphosphatasemia, familial idiopathic hyperphosphatasia, familial osteoectasia, hyperostosis corticalis deformans juvenilis, juvenile Paget's disease

Hereditary Lymphedema

Also known as: primary lymphedema
Subdivisions: hereditary lymphedema, type I (Milroy disease), lymphedema tarda, hereditary lymphedema, type II (Meige disease or lymphedema praecox)

Hereditary Multiple Osteochondromas

Also known as: diaphyseal aclasis, EXT, external chondromatosis syndrome, hereditary multiple exostoses, multiple cartilaginous exostoses, multiple exostoses, multiple exostoses syndrome, multiple osteochondromas, multiple osteochondromatosis

Hereditary Orotic Aciduria

Also known as: hereditary orotic aciduria, orotic aciduria type 1 , OA type 1, orotidylic pyrophosphorylase and orotidlyic decarboxylase deficiency, UMPS deficiency, uridine monophosphate synthase deficiency

Hereditary Sensory Neuropathy Type I

Also known as: hereditary sensory and autonomic neuropathy (HSAN) type I, hereditary sensory radicular neuropathy, autosomal dominant, HSAN1, HSN1

Hereditary Spastic Paraplegia

Also known as: familial spastic paraplegia, FSP, HSP, hereditary spastic paraparesis, familial spastic paraparesis, spastic spinal familial paraplegia, Strumpell disease, Strumpell-Lorrain familial spasmodic paraplegia, Strumpell-Lorrain syndrome, Strumpell’s familial paraplegia

Hereditary Spherocytosis

Also known as: acholuric jaundice, chronic acholuric jaundice, congenital hemolytic anemia, congenital hemolytic jaundice, congenital spherocytic anemia, hereditary spherocytic hemolytic anemia, HS, icterus (chronic familial), Minkowski-Chauffard syndrome, SPH2, spherocytic anemia, spherocytosis

Hermansky Pudlak Syndrome

Also known as: albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells, delta storage pool disease, HPS

Herpes, Neonatal

Also known as: Herpes Simplex Infection of Newborn, Herpesvirus Hominis Infection of Newborn

Hiccups, Chronic

Also known as: Hiccough, Chronic, Hiccups, Persistent, Intractable Hiccups, Singultus, Intractable

Hirschsprung Disease

Also known as: colonic aganglionosis, congenital megacolon, HAEC, Hirschsprung-associated enterocolitis, Hirschsprung’s disease, HSCR, intestinal aganglionosis, megacolon, aganglionic


Also known as: HAL deficiency, HIS deficiency, histidase deficiency, histidine ammonia-lyase (HAL) deficiency, hyperhistidinemia


Also known as: holoprosencephaly sequence, HPE
Subdivisions: alobar holoprosencephaly, semilobar holoprosencephaly, lobar holoprosencephaly, middle interhemispheric fusion

Holt Oram Syndrome

Also known as: atriodigital dysplasia, heart-hand syndrome, HOS1, ventriculo-radial syndrome

HTLV Type I and Type II

Also known as: acute T-cell leukemia, acute T-cell lymphoma, ATL, HAM/TSP, HTLV-I associated myelopathy, tropical spastic paraparesis

Human HOXA1 Syndromes

Also known as: Athabaskan brainstem dysgenesis syndrome (ABDS), Bosley-Salih-Alorainy syndrome (BSAS), Navajo brainstem syndrome

Huntington’s Disease

Also known as: Chronic Progressive Chorea, Degenerative Chorea, HD, Hereditary Chorea, Hereditary Chronic Progressive Chorea, Huntington's Chorea, VEOHD, Very Early Onset Huntington's Disease, Woody Guthrie's Disease


Also known as: Hydrocephaly, Water on the Brain
Subdivisions: Benign Hydrocephalus, Communicating Hydrocephalus, Internal Hydrocephalus, Non-Communicating Hydrocephalus, Normal Pressure Hydrocephalus, Obstructive Hydrocephalus

Hyper IgM Syndromes

Also known as: HIGM, IHIS, immunodeficiency with hyper IgM syndrome
Subdivisions: X-linked hyper IgM syndrome (XHIM), hyper IgM syndrome type 1 (HIGM1), hyper IgM syndrome type 2 (HIGM2), hyper IgM syndrome type 3 (HIGM3), hyper IgM syndrome type 4 (HIGM4), hyper IgM syndrome type 5 (HIGM5)


Also known as: familial startle disease, hereditary hyperekplexia, hyperexplexia, startle syndrome

Hyperlipoproteinemia Type III

Also known as: broad beta disease, dysbetalipoproteinemia, familial dysbetalipoproteinemia, remnant removal disease


Also known as: Hypokalemic Syndrome, Hypopotassemia Syndrome, Low Potassium Syndrome, Nephritis, Potassium-Losing, Potassium Loss Syndrome

Hypomelanosis of Ito

Also known as: HMI, incontinenti pigmenti achromians, pigmentary dysplasia, pigmentary mosaicism, IPA, ITO, Ito Hypomelanosis


Subdivisions: acquired hypoparathyroidism, autoimmune hypoparathyroidism, congenital hypoparathyroidism, idiopathic hypoparathyroidism


Also known as: HPP, Rathbun disease
Subdivisions: hypophosphatasia, perinatal, hypophosphatasia, infantile, hypophosphatasia, childhood (mild versus severe), hypophosphatasia, adult, odontohypophosphatasia, pseudohypophosphatasia

Hypothalamic Hamartoma

Also known as: HH , hypothalamic hamartoblastoma, hypothalamic hamartoma syndrome
Subdivisions: central precocious puberty, epilepsy and related neurobehavioral symptoms