Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program



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 2/2

• HMSN - Another name for Hereditary motor and sensory neuropathy
• HMSN - See Charcot-Marie-Tooth disease
• 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 palsies
• 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
• 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 due to TECPR2 mutation - See Autosomal recessive spastic paraplegia type 49
• 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 - See Worth type autosomal dominant osteosclerosis
• 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 - SeeHyperphenylalaninemia 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 REN-related autosomal dominant tubulointerstitial kidney disease
• 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 - SeeAmeloonychohypohidrotic 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 - SeeWoodhouse 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
• Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism - See POLR3-Related Leukodystrophy
• 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
• Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome - See POLR3-Related Leukodystrophy
• 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 - SeeHypoparathyroidism-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
• 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
• Hypothalamic obesity
• 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