List of rare diseases-H
From WikiMD's Food, Medicine & Wellness Encyclopedia
NIH genetic and rare disease info[edit source]
List of rare diseases-H is a rare disease.
- H syndrome
- H. influenzae
- HA/HI syndrome
- HABC
- H-ABC
- Haberland syndrome
- Habrodysplasia
- Habsburg jaw
- HADH deficiency
- HAE
- Haemoglobinemia
- Haemophilia A
- Haemophilus influenzae
- Haemorrhagic proctocolitis
- HAF deficiency
- Hageman factor deficiency
- Hailey-Hailey disease
- Haim-Munk syndrome
- Hair defect-photosensitivity-intellectual disability syndrome
- HAIR-AN syndrome- not a rare disease.
- Hair-pulling syndrome- not a rare disease.
- Hairy cell leukemia
- Hairy cutaneous malformations of palms and soles
- Hairy elbows
- Hairy elbows, short stature, facial dysmorphism, and developmental delay
- Hairy epidermal nevus syndrome
- Hairy nose tip
- Hairy palms and soles
- Hairy throat
- Hairy throat syndrome
- Hairy tongue- not a rare disease.
- Hajdu-Cheney syndrome
- HAL deficiency
- Halal Setton Wang syndrome
- Halal syndrome
- Hallermann Streiff Francois syndrome
- Hallermann Streiff syndrome
- Hallermann-Streiff syndrome
- Hallervorden-Spatz disease
- Hallgren syndrome
- Hall-Hittner syndrome
- Hall-Riggs syndrome
- Hallux syndactyly ulnar polydactyly abnormal ear lobes
- Hallux varus and preaxial polysyndactyly
- Halo nevi
- HAM/TSP
- Hamanishi Ueba Tsuji syndrome
- Hamann Zanki schimrigk syndrome
- Hamano Tsukamoto syndrome
- Hamartoma of the hypothalamus
- Hamman-Rich syndrome
- HANAC syndrome
- Hand and foot deformity - flat facies
- Hand and foot deformity with flat facies
- Hand foot genital syndrome
- Hand foot uterus syndrome
- Handigodu joint disease- not a rare disease.
- HaNDL syndrome
- HANE
- Hangover, susceptibility to
- Hanhart syndrome
- Hansen's disease
- Hantavirus
- Hantavirus pulmonary syndrome
- Hantavirus-associated respiratory distress syndrome
- HAPH
- Hapnes Boman Skeie syndrome
- Happle syndrome
- Happy puppet syndrome (formerly)
- Hapsburg jaw
- Harboyan syndrome
- Hard +/- E syndrome
- Hard skin syndrome Parana type
- Hard syndrome
- Hardikar syndrome
- Harding ataxia
- HARDS
- Harlequin fetus
- Harlequin ichthyosis
- Harlequin syndrome
- Harrod Doman Keele syndrome
- Harrod syndrome
- Hartnup disease
- Hartnup disorder
- Hartsfield syndrome
- HAS
- Hashimoto encephalopathy
- Hashimoto-Pritzker disease
- Hashimoto-Pritzker histiocytosis
- Hashimoto-Pritzker syndrome
- Hashimoto's disease- not a rare disease.
- Hashimoto's encephalopathy
- Hashimoto's struma- not a rare disease.
- Hashimoto's syndrome- not a rare disease.
- Hashimoto's thyroiditis- not a rare disease.
- Haspeslagh syndrome
- Haspeslagh-Fryns-Muelenaere syndrome
- Haw River syndrome
- Hawkinsinuria
- Hay-Wells syndrome
- Hb C disease
- Hb S beta-thalassemia
- HBOC
- HbS - beta-thalassemia
- HbS disease
- HbS-beta-thalassemia syndrome
- HbSC disease
- HbSD disease
- HbSE disease- not a rare disease.
- Hb-Zurich
- HCFP1
- HCG
- HCH
- HCHWA
- HCL
- HCP
- HD
- HDDD
- HDGC
- Hdl lipoprotein deficiency disease
- HDLD
- HDLDT1
- HDLS
- HDR syndrome
- HE
- Head and neck arteriovenous malformation
- Head and neck AVM
- Head and neck cancer- not a rare disease.
- Head and neck squamous cell carcinoma- not a rare disease.
- Hearing loss and familial salivary gland insensitivity to aldosterone
- Hearing loss insensitivity to aldosterone
- Heart block congenital
- Heart block progressive familial type 1
- Heart block progressive familial type 1B
- Heart block progressive familial type 2
- Heart defects and limb shortening
- Heart defect-tongue hamartoma-polysyndactyly syndrome
- Heart septal defects, ventricular
- Heart tumor
- Heart valve pulmonary stenosis
- Heart-hand syndrome
- Heart-hand syndrome 2
- Heart-hand syndrome, Slovenian type
- Heart-hand syndrome, Spanish type
- Heart-hand syndrome, type 1
- Heavy metal poisoning
- Heavy Metal Toxicity
- HEC syndrome
- Hecht syndrome
- Hecht-Scott syndrome
- HED
- HED
- HEDH syndrome
- HED-ID
- hEDS
- Heimler syndrome
- Heinz body anemias
- HELLP syndrome
- Helminthiasis
- Helsmoortel-van der Aa Syndrome
- HEM
- HEM A
- HEM B
- HEM dysplasia
- HEM/Greenberg dysplasia
- Hemangioblastoma
- Hemangioendothelioma
- Hemangioma thrombocytopenia syndrome
- Hemangiomas cavernous of face supraumbilical midline raphe
- Hemangiomatosis Chondrodystrophica
- Hemangiomatosis, familial pulmonary capillary
- Hemangiomatous branchial clefts-lip pseudocleft syndrome
- Hemangiopericytoma
- Hematidrosis
- Hematite pneumoconiosis
- Hematohidrosis
- Heme synthetase deficiency
- Hemeralopia-myopia
- Hemi 3 syndrome
- Hemicord syndrome
- Hemicrania continua
- Hemifacial atrophy, progressive
- Hemifacial hyperplasia strabismus
- Hemifacial microsomia
- Hemifacial microsomia with radial defects
- Hemifacial myohyperplasia
- Hemihyperplasia
- Hemihypertrophy
- Hemihypertrophy and macrocephaly
- Hemimegalencephaly
- Hemiparaplegic syndrome
- Hemiplegia
- Hemiplegic migraine
- Hemiplegic Migraine, Familial
- Hemiplegic migraine, familial type 1
- Hemiplegic migraine, familial type 2
- Hemiplegic migraine, familial type 3
- Hemiplegic-ophthalmoplegic migraine
- Hemispinal cord syndrome
- Hemochromatosis- not a rare disease.
- Hemochromatosis classic- not a rare disease.
- Hemochromatosis due to defect in ferroportin
- Hemochromatosis due to defect in transferrin receptor 2
- Hemochromatosis juvenile
- Hemochromatosis neonatal
- Hemochromatosis type 1- not a rare disease.
- Hemochromatosis type 2
- Hemochromatosis type 3
- Hemochromatosis type 4
- Hemochromatosis type 5
- Hemochromatosis, autosomal dominant
- Hemoglobin C disease
- Hemoglobin E disease
- Hemoglobin M disease
- Hemoglobin S Disease
- Hemoglobin SC disease
- Hemoglobin SE disease- not a rare disease.
- Hemoglobin sickle-beta thalassemia
- Hemoglobin Zurich
- Hemoglobinemia
- Hemoglobinopathy- not a rare disease.
- Hemoglobinuria paroxysmal cold
- Hemolysis, Elevated Liver Enzymes, Lowered Platelets
- Hemolytic anemia due to G6PD 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
- Hemophagocytic reticulosis
- Hemophilia
- Hemophilia A
- Hemophilia A, congenital
- Hemophilia B
- Hemophilia C
- Hemophilia, classic
- Hemophilic arthropathy
- Hemophilus influenzae
- Hemorrhagic dengue
- Hemorrhagic familial nephritis
- Hemorrhagic hereditary nephritis
- Hemorrhagic jaundice
- Hemorrhagic proctocolitis
- Hemorrhagic shock and encephalopathy syndrome
- Hemorrhagic shock and encephalopathy syndrome
- Hemorrhagic thrombocythemia
- Hemorrhagiparous thrombocytic dystrophy
- Hemosiderosis
- Hemosiderosis, pulmonary, with deficiency of gamma-a globulin
- HEMPAS anemia
- Hench-Rosenberg syndrome
- Hench's syndrome
- Henneguya salminicola
- Hennekam Beemer syndrome
- Hennekam lymphangiectasia lymphedema syndrome
- Hennekam syndrome
- Henoch Schonlein purpura
- Henoch-Schonlein purpura
- HEP
- Heparan sulfamidase deficiency
- Heparan sulfate sulfatase deficiency
- Heparan-alpha-glucosaminide N-acetyltransferase deficiency
- Heparane sulfamidase deficiency
- Heparin-induced thrombocytopenia
- Heparin-induced thrombocytopenia
- Hepatic AGT deficiency
- Hepatic carnitine palmitoyl transferase 1 deficiency
- Hepatic carnitine palmitoyl transferase I deficiency
- Hepatic carnitine palmitoyltransferase 1 deficiency
- Hepatic CPT1
- Hepatic cystic hamartoma
- Hepatic ductular hypoplasia
- Hepatic encephalopathy
- Hepatic fructokinase deficiency- not a rare disease.
- Hepatic glycogen synthase deficiency
- Hepatic glycogenosis with amino aciduria and glucosuria
- Hepatic lipase deficiency
- Hepatic phosphorylase kinase deficiency
- Hepatic veno-occlusive disease
- Hepatic veno-occlusive disease
- Hepatic venoocclusive disease with immunodeficiency
- Hepatitis D
- Hepatitis E
- Hepatitis X
- Hepatoblastoma
- Hepatocellular carcinoma with increased stromal fibrosis
- Hepatocyte nuclear factor 1 beta–associated disease
- Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease
- Hepatoencephalopathy
- Hepatoerythropoietic porphyria
- Hepatofacioneurocardiovertebral syndrome
- Hepatolenticular degeneration
- Hepatopulmonary syndrome
- Hepatorenal form of glycogen storage disease
- Hepatorenal glycogenosis
- Hepatorenal glycogenosis with renal fanconi syndrome
- Hepatorenal glycogenosis with renal Fanconi syndrome
- Hepatorenal syndrome
- Hepato-renal syndrome
- Hepatorenal tyrosinemia
- HEPOD
- Heptacarpo-octatarso-dactyly combined with multiple malformation
- Hereditary absence of proximal interphalangeal joints
- Hereditary alpha tryptasemia syndrome- not a rare disease.
- Hereditary amyloid nephropathy
- Hereditary amyloidosis
- Hereditary amyloidosis with primary renal involement
- Hereditary amyloidosis with primary renal involvement
- Hereditary angioedema
- Hereditary angioedema type 1
- Hereditary angioneurotic edema
- Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
- Hereditary antithrombin deficiency
- Hereditary antithrombin deficiency type 1
- Hereditary antithrombin deficiency type 2
- Hereditary antithrombin deficiency type I
- Hereditary areflexic dystasia
- Hereditary ataxia
- Hereditary ATTR amyloidosis
- Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna
- Hereditary brachial plexus neuropathy
- Hereditary brain cavernous angioma
- Hereditary brain cavernous hemangioma
- Hereditary branchial arch defects
- Hereditary breast cancer- not a rare disease.
- Hereditary breast carcinoma- not a rare disease.
- Hereditary bundle branch defect
- Hereditary cerebral cavernoma
- Hereditary cerebral cavernous malformation
- Hereditary cerebral hemorrhage with amyloidosis
- Hereditary ceruloplasmin deficiency
- Hereditary chin tremor/myoclonus
- Hereditary chronic pancreatitis
- Hereditary congenital controlateral synkinesia
- Hereditary congenital facial paresis
- Hereditary congenital hypopigmented and hyperpigmented macules
- Hereditary congenital mirror movements
- Hereditary coproporphyria
- Hereditary coproporphyria porphyria
- Hereditary cutis marmorata telangiectatica congenita
- Hereditary diffuse cancer of stomach
- Hereditary diffuse gastric adenocarcinoma
- Hereditary diffuse gastric cancer
- Hereditary diffuse leukoencephalopathy with axonal spheroids
- Hereditary diffuse leukoencephalopathy with spheroids
- Hereditary dystopic lipidosis
- Hereditary elliptocytosis
- Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
- Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
- Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test
- Hereditary essential myoclonus
- Hereditary 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
- Hereditary folate malabsorption
- Hereditary fructose intolerance
- Hereditary galactokinase deficiency
- Hereditary gelsolin amyloidosis
- Hereditary geniospasm
- Hereditary gingival fibromatosis with hypertrichosis
- Hereditary gingival fibromatosis, 1
- Hereditary gingival fibromatosis, 2
- Hereditary gingival fibromatosis, 3
- Hereditary 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
- Hereditary hyperparathyroidism-jaw tumor syndrome
- Hereditary hyperphosphatasia
- Hereditary inclusion body myopathy
- Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
- Hereditary inclusion body myopathy type 3
- Hereditary inclusion body myopathy with early respiratory failure
- Hereditary iron overload and African Americans
- Hereditary iron-loading anemia
- Hereditary koilonychia
- Hereditary leiomyomatosis and renal cell cancer
- Hereditary lymphedema
- Hereditary lymphedema 1
- Hereditary lymphedema type I
- Hereditary lymphedema type II
- Hereditary lymphedema-distichiasis syndrome (subtype)
- Hereditary macular coloboma (subtype)
- Hereditary methemoglobinemia
- Hereditary methemoglobinemia due to hemoglobin mutation
- Hereditary microcornea, glaucoma, and absent frontal sinuses
- Hereditary motor and sensory neuropathy
- Hereditary motor and sensory neuropathy
- Hereditary motor and sensory neuropathy 1
- Hereditary motor and sensory neuropathy 1A
- Hereditary motor and sensory neuropathy 1B
- Hereditary motor and sensory neuropathy 1D
- Hereditary motor and sensory neuropathy 2 A
- Hereditary motor and sensory neuropathy 2 B (HMSN 2 B)
- Hereditary motor and sensory neuropathy 2 C
- Hereditary motor and sensory neuropathy 3
- Hereditary motor and sensory neuropathy 5
- Hereditary motor and sensory neuropathy type 1
- Hereditary motor and sensory neuropathy type 2
- Hereditary motor and sensory neuropathy type 3
- Hereditary motor and sensory neuropathy type 5
- Hereditary motor and sensory neuropathy type III
- Hereditary motor and sensory neuropathy with agenesis of the corpus callosum
- Hereditary motor and sensory neuropathy, LOM type
- HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE
- Hereditary motor and sensory neuropathy, Russe type
- Hereditary motor and sensory neuropathy, X-linked
- Hereditary motor neuropathy, Jerash type
- Hereditary Motor Sensory Neuropathy I
- Hereditary mucoepithelial dysplasia
- Hereditary multiple benign cystic epithelioma
- Hereditary multiple diaphyseal sclerosis
- Hereditary multiple exostoses
- Hereditary multiple exostosis
- Hereditary multiple osteochondromas
- Hereditary multiple trichodiscomas
- Hereditary myoclonus and progressive distal muscular atrophy
- Hereditary myopathy with early respiratory failure
- Hereditary myosin myopathies - Another name for Myosinopathies
- Hereditary neuralgic amyotrophy
- Hereditary neurocutaneous Angioma
- Hereditary neuropathy with liability to pressure palsies
- Hereditary nodular heterotopia
- Hereditary nonpolyposis colorectal cancer- not a rare disease.
- Hereditary orotic aciduria
- Hereditary orotic aciduria without megaloblastic anemia
- Hereditary palmoplantar keratoderma with deafness (subtype)
- Hereditary pancreatic cancer
- Hereditary pancreatic carcinoma
- Hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease
- Hereditary pancreatitis
- Hereditary paraganglioma-pheochromocytoma
- Hereditary pheochromocytoma-paraganglioma
- Hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction
- Hereditary polyposis coli
- Hereditary prepubertal gynecomastia
- Hereditary progressive dystonia with diurnal fluctuation
- Hereditary prosopagnosia
- Hereditary prostate cancer
- Hereditary proximal myopathy with early respiratory failure
- Hereditary pubertal genu valgum
- Hereditary pulmonary arterial hypertension
- Hereditary Pyropoikilocytosis
- Hereditary renal amyloidosis
- Hereditary renal cell carcinoma
- Hereditary renal disease and preauricular pits
- Hereditary resistance to activated protein C- not a rare disease.
- Hereditary resistance to anti-vitamin K
- Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
- Hereditary sensorimotor neuropathy with hyperelastic skin
- Hereditary sensory and autonomic neuropathy
- Hereditary sensory and autonomic neuropathy 3
- Hereditary sensory and autonomic neuropathy 4
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- Hereditary sensory and autonomic neuropathy type 1
- Hereditary sensory and autonomic neuropathy type 1E
- Hereditary sensory and autonomic neuropathy type 2
- Hereditary sensory and autonomic neuropathy type 5
- Hereditary sensory and autonomic neuropathy type 7
- Hereditary sensory and autonomic neuropathy type V
- Hereditary sensory and autonomic neuropathy type VII
- Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
- Hereditary sensory and motor neuropathy type 4
- Hereditary sensory autonomic neuropathy
- Hereditary sensory neuropathy type 1
- Hereditary sensory neuropathy type 2
- Hereditary sensory neuropathy type 3
- Hereditary sensory neuropathy type IE
- Hereditary sensory neuropathy type IV
- Hereditary sensory neuropathy with hearing loss and dementia
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome
- Hereditary sensory radicular neuropathy, recessive form
- Hereditary spastic diplegia with mental retardation
- Hereditary spastic paraparesis
- Hereditary spastic paraplegia
- Hereditary spastic paraplegia 11
- Hereditary spastic paraplegia mental impairment and thin corpus callosum
- Hereditary spastic paraplegia Paraplegin type
- Hereditary spherocytosis
- Hereditary spinal ataxia
- Hereditary spinal sclerosis
- Hereditary symmetrical aplastic nevi of temples
- Hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples
- Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
- Hereditary thrombophilia due to congenital antithrombin 3 deficiency
- Hereditary thrombophilia due to congenital antithrombin deficiency
- Hereditary thrombophilia due to congenital protein C deficiency
- Hereditary thrombophilia due to PC deficiency
- Hereditary thymine-uraciluria- not a rare disease.
- Hereditary thyroglossal duct cysts
- Hereditary vascular retinopathy
- Hereditary vertical nystagmus
- Hereditary von Willebrand disease- not a rare disease.
- Hereditary whispering dysphonia
- Hereditary white nails
- Hereditary woolly hair (autosomal dominant)
- Hereditary xerocytosis
- Heredopathia atactica polyneuritiformis
- Heredopathia ophthalmootoencephalica
- Heritable breast cancer- not a rare disease.
- Heritable hypertrophic cardiomyopathy
- Heritable pulmonary arterial hypertension
- Herlitz-Pearson type epidermolysis bullosa
- Hermansky Pudlak syndrome
- Hermansky Pudlak syndrome 2
- Hermansky-Pudlak syndrome
- Hermansky-Pudlak syndrome 2
- Hernández-Aguirre Negrete syndrome
- Hernia uteri inguinale
- HERNS
- Herpes B virus infection
- Herpes gestationis
- Herpes iris, erythema multiforme type
- Herpes simiae (B virus)
- Herpes simplex encephalitis
- Herpes simplex meningo-encephalitis
- Herpes simplex neuroinvasion
- Herpes simplex virus encephalitis
- Herpes virus antenatal infection
- Herpes zoster ophthalmicus
- Herpes zoster ophthalmicus (HZO)
- Herpes zoster oticus
- Herpesvirus simiae B virus infection
- Herpetic encephalitis
- Herrmann Opitz craniosynostosis
- Herrmann syndrome
- Hers disease
- Hersh Podruch Weisskopk syndrome
- HES
- Heterochromia iridis- not a rare disease.
- Heterotaxia
- Heterotaxy
- Heterotaxy syndrome
- Heterotaxy, visceral, 1, X-linked
- Heterotaxy, visceral, X-linked
- Heterotopia familial nodular
- Heterotopia periventricular X-linked dominant
- HexA deficiency
- Hexokinase deficiency hemolytic anemia
- Hexosaminidase A and B deficiency Disease
- Hexosaminidase A deficiency
- Hexosaminidase alpha-subunit deficiency (variant B)
- HFE3
- HFE4
- HFE-associated hereditary hemochromatosis- not a rare disease.
- HFG syndrome
- HFGS
- HFTC
- HFU syndrome
- HGE
- HGF1
- HGF2
- HGF3
- HGF4
- HGPPS
- HGPS
- HGSNAT deficiency
- HHC1
- HHC2
- HHC3
- HHF2
- HHF3
- HHF7
- HHH
- HHH syndrome
- HHHS
- HHS
- HHS
- HHT
- HHT2
- HHT3
- HHT4
- HHV-6 encephalitis
- HHV8
- Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type
- HIBCH deficiency
- Hibernian fever, familial
- HIBM
- HIBM3
- HIBM-ERF
- Hiccups, intractable
- Hidradenitis suppurativa- not a rare disease.
- Hidradenocarcinoma
- Hidradenoma
- Hidrotic ectodermal dysplasia Halal type
- Hidrotic ectodermal dysplasia, autosomal dominant
- Hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers
- HIDS
- HIES
- HIES autosomal dominant
- HIES autosomal recessive
- High altitude cerebral edema
- High altitude pulmonary edema
- High altitude pulmonary hypertension
- High density lipoprotein deficiency
- High density lipoprotein deficiency, Tangier type
- High density lipoprotein deficiency, type 1
- High molecular weight kininogen deficiency
- High myopia-sensorineural deafness syndrome
- High red cell phosphatidylcholine hemolytic anemia
- High scapula
- High-grade pleomorphic peripheral T-cell lymphoma
- Highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses
- High-molecular-weight kininogen deficiency, congenital
- HIGM
- HIGM1
- HIGM2
- HIGM3
- HIGM4
- HIGM5
- Hinson-Pepys disease
- Hip dysplasia Beukes type
- Hip socket neuropathy
- Hip subluxation
- Hirata disease
- Hirayama disease
- Hirschsprung disease 1
- Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness
- Hirschsprung disease ganglioneuroblastoma
- Hirschsprung disease mental retardation syndrome
- Hirschsprung disease modifier
- Hirschsprung disease type 1
- Hirschsprung disease type 2
- Hirschsprung disease type 3
- Hirschsprung disease type d brachydactyly
- Hirschsprung disease with pigmentary anomaly
- Hirschsprung disease, deafness and polydactyly
- Hirschsprung nail hypoplasia dysmorphism
- Hirschsprung's disease
- Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features
- Hirsutism skeletal dysplasia mental retardation syndrome
- Hirsutism-skeletal dysplasia-intellectual disability syndrome
- His bundle tachycardia
- HIS deficiency
- Histidase deficiency
- Histidine ammonia-lyase deficiency
- Histidinemia
- Histidinuria renal tubular defect
- Histiocytic necrotising lymphadenitis
- Histiocytic necrotizing lymphadenitis
- Histiocytoid cardiomyopathy
- Histiocytosis with joint contractures and sensorineural deafness
- Histiocytosis X
- Histiocytosis, Non-Langerhans-Cell
- Histiocytosis, sea-blue
- Histiocytosis-lymphadenopathy plus syndrome
- HIT
- HIVEP2-related intellectual disability
- HJCD
- HJMD
- HLA class 1 deficiency
- HLD5
- HLD6
- HLH
- HLH2
- HLH3
- HLH4
- HLHS
- HLP
- HLRCC
- HLS
- HLTS
- HMBS deficiency
- HMC syndrome
- HMCS
- HME
- HMERF
- HMERF-ERF
- HMG CoA lyase deficiency
- HMG CoA synthetase deficiency
- HMG-CoA lyase deficiency
- HMN VI
- HMN6
- HMNJ
- HMO
- HMS
- HMSN
- HMSN - Another name for Hereditary motor and sensory neuropathy
- HMSN 1A
- HMSN 1B
- HMSN 1D
- HMSN 2 C
- HMSN 3
- HMSN 4
- HMSN 5
- HMSN I
- HMSN IIA
- HMSN III
- HMSN, X-linked
- HMSN/ACC
- HMSN1
- HMSN2 with giant axons
- HMSN3
- HMSNL
- HMSNO
- HMSNP
- HMSNR
- HMWK
- HND
- HNPCC- not a rare disease.
- HNPP
- HNRNPH2 deficiency
- HNSCC- not a rare disease.
- HNT
- Ho Kaufman Mcalister syndrome
- HOD
- Hodgkin disease
- Hodgkin disease, X-linked pseudoautosomal
- Hodgkin lymphoma
- Hodgkin's lymphoma
- Hoepffner dreyer reimers syndrome
- Hoepffner-Dreyer-Reimers syndrome - Another name for Lipodystrophy due to peptidic growth factors deficiency
- HOGA
- HOKPP
- Hollow visceral myopathy
- Holmes Collins syndrome
- Holmes-Adie syndrome
- Holoacardius amorphus
- Holocarboxylase synthetase deficiency
- Holoprosencephaly
- Holoprosencephaly craniosynostosis
- Holoprosencephaly ectrodactyly cleft lip palate
- Holoprosencephaly polydactyly syndrome
- Holoprosencephaly radial heart renal anomalies
- Holoprosencephaly with fetal akinesia/hypokinesia sequence
- Holoprosencephaly, recurrent infections, and monocytosis
- Holoprosencephaly-agnathia
- Holt-Oram syndrome
- Holzgreve syndrome
- HOMG1
- HOMG2
- Homocarnosinase deficiency
- Homocarnosinosis
- Homocysteinemia
- Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
- Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
- Homocystinuria
- Homocystinuria due to CBS deficiency
- Homocystinuria due to cystathionine beta-synthase 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
- Homocystinuria-megaloblastic anemia, cblG complementation type
- Homogentisic acid oxidase deficiency
- Homogentisic acidura
- Homologous wasting disease
- Homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects
- Homozygous familial hypobetalipoproteinemia
- Honeycomb atrophy
- HOOE
- Hooft disease
- Hookworm infection
- Hordnes Engebretsen Knudtson syndrome
- Horizontal gaze palsy with progressive scoliosis
- Horn Kolb syndrome
- Horner's syndrome
- Hornova Dlushosova syndrome
- Hornstein-Knickenberg syndrome
- Horseshoe kidney- not a rare disease.
- Horton’s disease
- Horton’s syndrome
- Horton's arteritis
- Horton's giant cell arteritis
- Horton's temporal arteritis
- HOS
- HOS 1
- Houston-Harris achondrogenesis
- Howel-Evans syndrome
- Howell-Evans syndrome
- Hoyeraal Hreidarsson syndrome
- Hozay’s syndrome
- HP
- HP1
- HP2
- HPCHA
- HPD with diurnal fluctuation
- HPDR
- HPE
- HPLH2
- HPLH3
- HPLH4
- HPRT deficiency, complete
- HPS
- HPS
- HPS2
- HPT-JT
- HRD syndrome
- HRPT1
- HRPT2
- HRS
- HRZ
- HSAN
- HSAN 1
- HSAN 3
- HSAN 4
- HSAN due to TECPR2 mutation
- HSAN IV
- HSAN V
- HSAN with hyperhidrosis and gastrointestinal dysfunction
- HSAN1E
- HSAN2
- HSAN5
- HSAN7
- HSAS
- HSAS1
- HSCR
- HSCR 1
- HSCR3
- HSD 11b1 deficiency
- HSD10 deficiency
- HSD3B deficiency
- HSE
- HSES
- HSH
- HSN 3
- HSN1
- HSN1E
- HSNAN4
- HSNIE
- HSP
- HSRV infection
- HSS
- HSV encephalitis
- HSVE
- HTC 1
- HTC2
- HTLV-1
- HTLV-1 associated myelopathy/tropical spastic paraparesis
- HTLV-2
- HTLV-3
- HTNB
- HTX1
- Hughes syndrome
- Human babesiosis
- Human balantidiasis
- Human complement C8-beta deficiency
- Human cytochrome P450 2D6- not a rare disease.
- Human ehrlichial infection, human granulocytic type
- Human ehrlichial infection, human monocytic type
- Human Ehrlichial infection, Sennetsu type
- Human Ehrlichiosis
- Human granulocytic ehrlichiosis
- Human Herpesvirus 6 encephalitis
- Human herpesvirus 8
- Human HOXA1 syndromes
- Human monocytic ehrlichiosis
- Human parainfluenza virus type 3
- Human pythiosis
- Human spumaretroviridae infection
- Human spumaretrovirus infection
- Human T lymphotropic virus type 1
- Human T lymphotropic virus type 2
- Human T lymphotropic virus type 3
- Human T-cell leukemia virus type 1
- Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis
- Human T-cell leukemia virus type 2
- Human T-cell leukemia virus type 3
- Human trichinellosis
- Humeroperoneal neuromuscular disease, (formerly)
- Humeroradial synostosis
- Humero-radial synostosis
- Humeroradioulnar synostosis
- Hunt syndrome (formerly)
- Hunter Carpenter Macdonald syndrome
- Hunter Mcdonald syndrome
- Hunter syndrome
- Hunter Thompson Reed syndrome
- Hunter-mcalpine craniosynostosis
- Hunter-mcalpine craniosynostosis syndrome
- Hunter-McAlpine syndrome
- Hunter-Thompson-Reed syndrome
- Huntington disease
- Huntington disease, juvenile onset
- Huntington's chorea
- Huntington's disease
- Hunt's syndrome (formerly)
- Huriez syndrome
- Hurler disease
- Hurler syndrome
- Hurler syndrome (subtype)
- Hurler-Scheie syndrome
- Hurler–Scheie syndrome
- Hurler-Scheie syndrome (subtype)
- Hurthle cell carcinoma of the thyroid
- Hurthle cell thyroid cancer
- HUS
- HUS, atypical
- Hutchinson Gilford progeria syndrome
- Hutchinson Gilford syndrome
- Hutchinson incisors
- Hutchison melanotic freckle
- Hutterite cerebroosteonephrodysplasia syndrome
- HV
- HVDAS
- HVR
- Hyaline body myopathy
- Hyaline fibromatosis syndrome
- Hyaline membrane disease
- Hyalinosis cutis et mucosae
- Hyaloideoretinal degeneration of Wagner
- Hybrid acute leukemia
- HYCX
- Hydatid mole
- Hydatidiform mole
- Hydatidosis
- Hyde Forster Mccarthy Berry syndrome
- HYDM
- Hydranencephaly
- Hydranencephaly and microcephaly
- Hydranencephaly with abnormal genitalia
- Hydroa vacciniforme
- Hydroa vacciniforme, familial
- Hydroanencephaly
- Hydrocepalus with associated malformations
- Hydrocephalus
- Hydrocephalus autosomal recessive
- Hydrocephalus blue sclera nephropathy
- Hydrocephalus cataract microphthalmos
- Hydrocephalus due to congenital stenosis of aqueduct of sylvius
- Hydrocephalus obesity hypogonadism
- Hydrocephalus skeletal anomalies
- Hydrocephalus with associated malformations
- Hydrocephalus with cerebellar agenesis
- Hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies
- Hydrocephalus, agyria and retinal dysplasia
- Hydrocephalus, cardiac malformation, dense bones, etc
- Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
- Hydrocephalus, endocardial fibroelastosis, and cataracts
- Hydrocephalus, skeletal anomalies, and mental disturbance
- Hydrocephalus, tall stature, joint laxity and kyphoscoliosis
- Hydrocephalus, X-linked
- Hydrocephalus-cleft palate-joint contractures syndrome
- Hydrocephaly
- Hydrocephaly - low insertion umbilicus
- Hydrocephaly - tall stature - joint laxity
- Hydrolethalus syndrome
- Hydrometrocolpos syndrome
- Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
- Hydronephrosis due to PUJO
- Hydronephrosis with peculiar facial expression
- Hydrops fetalis
- Hydrops fetalis nonimmune
- Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
- Hydrops, ectrodactyly, syndactyly, duplication of the great toes
- Hydrops-ectopic calcification-motheaten syndrome
- Hydroxyacyl-CoA dehydrogenase II deficiency
- Hydroxycarboxylic aciduria
- Hydroxykynureninuria
- Hydroxymethylbilane synthase deficiency
- Hydroxymethylglutaric aciduria
- Hydroxyprolinemia
- Hygroma cervical
- Hygroma cervicis
- Hymenolepiasis
- Hymenolepsis infection
- Hyper Ig E syndrome, autosomal dominant
- Hyper Ig E syndrome, autosomal recessive
- Hyper IgD syndrome
- Hyper IgE syndrome
- Hyper IgM immunodeficiency, x-linked
- Hyper IgM syndrome
- Hyper IgM syndrome 1
- Hyper IgM syndrome 2
- Hyper IgM syndrome 3
- Hyper IgM syndrome 4
- Hyper IgM syndrome 5
- Hyperacusis
- Hyperadrenalism
- Hyperadrenocorticism
- Hyperalaninemia
- Hyperaldosteronism, familial type 1
- Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency
- Hyperammonemia due to carbonic anhydrase VA deficiency
- Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- Hyperandrogenic, insulin-resistant acanthosis nigricans syndrome- not a rare disease.
- Hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN)- not a rare disease.
- Hyperargininemia
- Hyperbetaalaninemia
- Hyper-beta-alaninemia
- Hyperbilirubinemia 2
- Hyperbilirubinemia Arias type- not a rare disease.
- Hyperbilirubinemia transient familial neonatal
- Hyperbilirubinemia type 1- not a rare disease.
- Hyperbilirubinemia type 2
- Hyperbilirubinemia, Rotor type
- Hyperbilirubinemic encephalopathy
- Hypercalcemia, familial benign type 1
- Hypercalcemia, familial benign type 2
- Hypercalcemia, familial benign, Oklahoma type
- Hypercalcemia, familial benign, type 3
- Hypercalcemia, familial, with nephrocalcinosis and indicanuria
- Hypercalcemic nephropathy
- Hypercalcinuria macular coloboma
- Hypercementosis
- Hyperchylomicronemia late onset
- Hyperchylomicronemia with hyperprebetalipoproteinemia, familial
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- Hypercontractile esophagus
- Hypercortisolism
- Hyperdactyly
- Hypereosinophilic syndrome
- Hypereosinophilic syndrome, idiopathic
- Hyperexplexia hereditary
- Hyperferritinemia cataract syndrome
- Hyperfibrinolysis due to PAI1 deficiency
- Hypergastrinemic, hyperpepsinogenemic duodenal ulcer
- Hyperglycerolemia
- Hyperglycinemia nonketotic
- Hyperglycinemia with ketoacidosis and leukopenia
- Hypergonadotropic ovarian failure, familial or sporadic
- Hyperhidrosis gustatory
- Hyper-IgD syndrome
- Hyper-IgE recurrent infection syndrome
- Hyper-IgG4 disease
- Hyperimidodipeptiduria
- Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant
- Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
- Hyperimmunoglobulin E syndrome
- Hyperimmunoglobulinemia D and periodic fever syndrome
- Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
- Hyperinsulinemic hypoglycemia exercise-induced
- Hyperinsulinemic hypoglycemia familial
- Hyperinsulinemic hypoglycemia familial 2
- Hyperinsulinemic hypoglycemia familial 3
- Hyperinsulinemic hypoglycemia familial 6
- Hyperinsulinemic hypoglycemia familial 7
- Hyperinsulinism congenital
- Hyperinsulinism due to glucokinase deficiency
- Hyperinsulinism due to glutamodehydrogenase deficiency
- Hyperinsulinism familial with pancreatic nesidioblastosis
- Hyperinsulinism hyperammonemia syndrome
- Hyperinsulinism, diffuse
- Hyperinsulinism-hyperammonemia syndrome
- Hyperkalemic periodic paralysis
- Hyperkeratosis follicularis et parafollicularis in cutem penetrans
- Hyperkeratosis lenticularis perstans
- Hyperkeratosis lenticularis perstans of Flegel
- Hyperkeratosis palmoplantar localized epidermolytic
- Hyperkeratosis palmoplantaris with periodontosis
- Hyperkeratosis-contracture syndrome
- Hyperlipemia combined fat and carbohydrate-induced
- Hyperlipemia mixed
- Hyperlipidemia due to hepatic lipase deficiency
- Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
- Hyperlipidemia due to hepatic triglyceride lipase deficiency
- Hyperlipidemia due to HL deficiency
- Hyperlipidemia due to HTGL deficiency
- Hyperlipidemia type 3
- Hyperlipidemia type V
- Hyperlipoproteinemia type 3
- Hyperlipoproteinemia type 4
- Hyperlipoproteinemia type 5
- Hyperlipoproteinemia type IIA- not a rare disease.
- Hyperlipoproteinemia type III
- Hyperlipoproteinemia type V
- Hyperlipoproteinemia, type 2 A- not a rare disease.
- Hyperlipoproteinemia, type Ib
- HYPERLIPOPROTEINEMIA, TYPE II- not a rare disease.
- Hyper-low density-lipoproteinemia- not a rare disease.
- Hyperlysinemia
- Hypermanganesemia with dystonia polycythemia and cirrhosis
- Hypermethioninemia due to glycine N-methyltransferase deficiency
- Hypermethioninemia due to GNMT deficiency
- Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
- Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
- Hypermobile EDS
- Hypermobile Ehlers-Danlos syndrome
- Hypernychthemeral syndrome
- Hyperornithinemia
- Hyperornithinemia with gyrate atrophy of choroid and retina
- Hyperornithinemia-gyrate atrophy of choroid and retina syndrome
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Hyperostosid corticalis deformans juvenilis
- Hyperostosis corticalis deformans juvenilis
- Hyperostosis corticalis generalisata
- Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus
- Hyperostosis frontalis interna, obesity, shortness and cognitive impairment
- Hyperostosis generalisata with striations
- Hyperostosis with hyperphosphatemia
- Hyperostosis-hyperphosphatemia syndrome
- Hyperostotic dwarfism Lenz-Majewski type
- Hyperparathyroidism 1
- Hyperparathyroidism 2
- Hyperparathyroidism, familial isolated primary
- Hyperparathyroidism, primary
- Hyperparathyroidism-jaw tumor syndrome
- Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
- Hyperphenylalanemia, BH4-deficient, A
- Hyperphenylalaninemia caused by a defect in biopterin metabolism
- Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency
- Hyperphenylalaninemia due to BH4 deficiency
- Hyperphenylalaninemia due to dehydratase deficiency
- Hyperphenylalaninemia due to dihydropteridine reductase deficiency
- Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
- Hyperphenylalaninemia with Primapterinuria
- Hyperphenylalaninemia, BH4-Deficient, B
- Hyperphenylalaninemia, BH-4-deficient, C
- Hyperphenylalaninemia, BH4-deficient, D
- Hyperphenylalaninemia, non-phenylketonuric
- Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency
- Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency
- Hyperphenylalaninemic embryopathy
- Hyperphosphatasemia tarda
- Hyperphosphatasemia, chronic congenital idiopathic
- Hyperphosphatasia, familial idiopathic
- Hyperphosphatemic familial tumoral calcinosis
- Hyperpotassemia and hypertension familial
- Hyperprolactinaemia
- Hyperprolinemia
- Hyperprolinemia type 1
- Hyperprolinemia type 2
- Hyperprolinemia type 2
- Hyperprostaglandin E syndrome 1
- Hyperprostaglandin E syndrome 2
- Hyperprothrombinemia
- Hyperpyrexia malignant
- Hyperpyrexia, malignant
- Hypersarcosinemia
- Hypersecretion of adrenal androgens, familial
- Hypersensitivity angiitis
- Hypersensitivity pneumonitis
- Hypersensitivity pneumonitis
- Hypersensitivity vasculitis
- Hypertelorism and tetralogy of Fallot
- Hypertelorism hypospadias polysyndactyly syndrome
- Hypertelorism hypospadias syndrome
- Hypertelorism microtia facial clefting syndrome
- Hypertelorism with esophageal abnormality and hypospadias
- Hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies
- Hypertelorism, short midface, arachnodactyly, coloboma of Iris and delayed bone age
- Hypertelorism, Teebi type
- Hypertension, Portal- not a rare disease.
- Hyperthermia induced defects
- Hyperthermia of anesthesia
- Hyperthyroxinemia, eumetabolic, due to T4 plasma membrane transport
- Hypertrichosis atrophic skin ectropion macrostomia
- Hypertrichosis congenital generalized X-linked
- Hypertrichosis cubiti
- Hypertrichosis lanuginosa congenita
- Hypertrichosis lanuginosa congenita
- Hypertrichosis lanuginosa universalis
- Hypertrichosis lanuginosa, acquired
- Hypertrichosis terminalis, generalized, with gingival hyperplasia
- Hypertrichosis universalis
- Hypertrichosis universalis
- Hypertrichosis universalis congenita Ambras type
- Hypertrichosis, atrophic skin, ectropion, and macrostomia
- Hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy
- Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
- Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
- Hypertrichotic osteochondrodysplasia
- Hypertrophic branchial myopathy
- Hypertrophic gastropathy
- Hypertrophic neuropathy of Dejerine-Sottas
- Hypertrophic neuropathy of infancy
- Hypertrophic neuropathy of Refsum
- Hypertrophic olivary degeneration
- Hypertrophy and asymmetry of the facial muscles
- Hypertryptophanemia
- Hyperuricemic nephropathy, familial juvenile 2
- Hyperuricemic nephropathy, familial juvenile, atypical
- Hypervalinemia
- Hypnic headache
- Hypoadrenalism
- Hypoadrenocorticism familial
- Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis
- Hypoaldosteronism
- Hypoalphalipoproteinemia, familial
- Hypoalphalipoproteinemia, primary
- Hypoascorbemia
- Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells
- Hypobetalipoproteinemia, familial
- Hypocalcemia, autosomal dominant
- Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis
- Hypocalciuric hypercalcemia, familial, type 1
- Hypocalciuric hypercalcemia, familial, type 2
- Hypocalciuric hypercalcemia, familial, type 3
- Hypoceruloplasminemia
- Hypochondroplasia
- Hypochromic microcytic anemia with iron overload
- Hypocomplementemic urticarial vasculitis
- Hypodermitis sclerodermaformis
- Hypodermyasis
- Hypodontia - dysplasia of nails
- Hypodontia, X-linked
- Hypofibrinogenemia, familial
- Hypogammaglobulinemia and isolated growth hormone deficiency, x-linked
- Hypogamma-globulinemia, acquired
- Hypoganglionosis
- Hypoglossia-hypodactylia syndrome
- Hypoglycemia hyperinsulinemic of infancy
- Hypoglycemia leucine induced
- Hypoglycemia leucine-induced
- Hypoglycemia with deficiency of glycogen synthetase in the liver
- Hypogonadism and frontoparietal alopecia
- Hypogonadism cataract syndrome
- Hypogonadism primary partial alopecia
- Hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities
- Hypogonadism, isolated, hypogonadotropic
- Hypogonadotropic hypogonadism alopecia
- Hypogonadotropic hypogonadism and anosmia
- Hypogonadotropic hypogonadism-anosmia syndrome
- Hypohidrotic ectodermal dysplasia
- Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
- Hypohidrotic ectodermal dysplasia autosomal dominant
- Hypohidrotic ectodermal dysplasia autosomal recessive
- Hypohidrotic ectodermal dysplasia with hypothyroidism
- Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
- Hypohidrotic ectodermal dysplasia with immune deficiency
- Hypohidrotic ectodermal dysplasia X-linked
- Hypokalemic alkalosis with hypercalciuria
- Hypokalemic alkalosis with hypercalciuria antenatal 1
- Hypokalemic alkalosis with hypercalciuria antenatal 2
- Hypokalemic periodic paralysis
- Hypokinetic dilated cardiomyopathy, familial
- Hypolipoproteinemia
- Hypomagnesemia caused by selective magnesium malabsorption
- Hypomagnesemia intestinal type 1
- Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
- Hypomagnesemic tetany
- Hypomandibular faciocranial dysostosis
- Hypomelanosis of Ito
- Hypomelanosis with no immunologic or neurologic manifestations
- Hypomelanotic disorder
- Hypomelia hypotrichosis facial hemangioma syndrome
- Hypomelia mullerian duct anomalies
- Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
- Hypomyelination - congenital cataract
- Hypomyelination and congenital cataract
- Hypomyelination with atrophy of basal ganglia and cerebellum
- Hypomyelination, severe congenital
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
- Hypoparathyroidism
- Hypoparathyroidism familial isolated
- Hypoparathyroidism lymphedema syndrome
- Hypoparathyroidism with short stature, intellectual disability and seizures
- Hypoparathyroidism X-linked
- Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay
- Hypoparathyroidism, idiopathic (subtype)
- Hypoparathyroidism, sensorineural deafness, and renal dysplasia
- Hypoparathyroidism-intellectual disability-dysmorphism syndrome
- Hypoparathyroidism-short stature-intellectual disability-seizures syndrome
- Hypopharyngeal cancer
- Hypophophatemia, X-linked
- Hypophophatemic vitamin D-resistant rickets
- Hypophosphatasia
- Hypophosphatasia mild
- Hypophosphatemic rickets
- Hypophosphatemic rickets, X-linked dominant
- Hypopigmentation
- Hypopigmentation oculocerebral syndrome Cross type
- Hypopigmentation/deafness of Tietz
- Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
- Hypopituitarism
- Hypopituitarism and septooptic 'dysplasia'
- Hypoplasia of the right ventricle
- Hypoplasia of the tibia with polydactyly
- Hypoplasia of ulna and fibula
- Hypoplasminogenemia
- Hypoplastic left heart syndrome
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
- Hypoplastic pulmonary arteries and aorta with obstructive uropathy
- Hypoplastic right heart syndrome
- Hypoplastic right-sided heart complex
- Hypoplastic thumb mullerian aplasia
- HypoPP
- Hypoproconvertinemia
- Hypoprothrombinemia, inherited
- Hypospadias familial
- Hypospadias intellectual deficit Goldblatt type
- Hypospadias mental retardation syndrome (formerly)
- Hypospadias-dysphagia, syndrome
- Hypospadias-intellectual disability, Goldblatt type syndrome
- Hypotelorism cleft palate hypospadias
- Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
- Hypothalamic hamartomas
- Hypothalamic obesity
- Hypothyroidism cleft palate Hypothyroidism, athyroidal, with spiky hair and cleft palate
- Hypothyroidism due to iodide transport defect
- Hypotonia and ichthyosis due to dolichol phosphate deficiency
- Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
- Hypotonia, obesity, and prominent incisors
- Hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion
- Hypotrichosis associated with congenital hypoplasia of the thumb
- Hypotrichosis lymphedema telangiectasia syndrome
- Hypotrichosis simplex
- Hypotrichosis, congenital, with juvenile macular dystrophy
- Hypotrichosis, Marie Unna type
- Hypotrichosis-lymphedema-telangiectasia syndrome
- Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
- Hypouricemia, renal
- Hypovitaminosis D
- Hypoxanthine guanine phosphoribosyltransferase deficiency
- Hypoxanthine-guanine phosphoribosyltransferase deficiency
- Hypoxia neonatorum
- HYPP
- HZO
NIH genetic and rare disease info[edit source]
List of rare diseases-H is a rare disease.
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Contributors: Prab R. Tumpati, MD