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

• High altitude pulmonary hypertension - See Pulmonary edema of mountaineers
• High density lipoprotein deficiency - See Familial HDL deficiency
• High density lipoprotein deficiency, Tangier type - See Tangier disease
• High density lipoprotein deficiency, type 1 - See Tangier disease
• High molecular weight kininogen deficiency
• High myopia-sensorineural deafness syndrome - See Deafness and myopia syndrome
• High nasal bridge, cataract and cleft palate - See Johnson Hall Krous syndrome
• High red cell phosphatidylcholine hemolytic anemia - See Red cell phospholipid defect with hemolysis
• High scapula - See Sprengel deformity
• High-grade pleomorphic peripheral T-cell lymphoma - See Enteropathy-associated T-cell lymphoma
• Highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses - See Sinonasal undifferentiated carcinoma
• High-molecular-weight kininogen deficiency, congenital - See High molecular weight kininogen deficiency
• HIGM - See Immunodeficiency with hyper IgM type 1
• HIGM1 - See Immunodeficiency with hyper IgM type 1
• HIGM2 - See Immunodeficiency with hyper IgM type 2
• HIGM3 - See Immunodeficiency with hyper IgM type 3
• HIGM4 - See Immunodeficiency with hyper IgM type 4
• HIGM5 - See Immunodeficiency with hyper IgM type 5
• Hillig syndrome
• Hing Torack Dowston syndrome
• Hinson-Pepys disease - See Allergic bronchopulmonary aspergillosis
• Hip dysplasia Beukes type - See Beukes familial hip dysplasia
• Hip luxation
• Hip socket neuropathy - See Piriformis syndrome
• Hip subluxation
• Hirata disease - See Insulin autoimmune syndrome
• Hirayama disease - See Monomelic amyotrophy
• Hirschsprung disease 1 - See Hirschsprung's disease
• Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness - See Santos Mateus Leal syndrome
• Hirschsprung disease ganglioneuroblastoma
• Hirschsprung disease mental retardation syndrome - See Mowat-Wilson syndrome
• Hirschsprung disease modifier - See Hirschsprung disease type 3
• Hirschsprung disease polydactyly heart disease
• Hirschsprung disease type 1 - See Hirschsprung's disease
• Hirschsprung disease type 2
• Hirschsprung disease type 3
• Hirschsprung disease type d brachydactyly
• Hirschsprung disease with pigmentary anomaly - See Waardenburg syndrome type 4
• Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect - SeeHirschsprung disease polydactyly heart disease
• Hirschsprung disease, deafness and polydactyly - See Santos Mateus Leal syndrome
• Hirschsprung microcephaly cleft palate
• Hirschsprung nail hypoplasia dysmorphism
• Hirschsprung's disease
• Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly - SeeLaurence Prosser Rocker syndrome
• Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect - SeeLaurence Prosser Rocker syndrome
• Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features - See Al-Gazali-Donnai-Mueller syndrome
• Hirsutism skeletal dysplasia mental retardation syndrome - See Wiedemann Oldigs Oppermann syndrome
• Hirsutism-skeletal dysplasia-intellectual disability syndrome - See Wiedemann Oldigs Oppermann syndrome
• His bundle tachycardia
• HIS deficiency - See Histidinemia
• Histidase deficiency - See Histidinemia
• Histidine ammonia-lyase deficiency - See Histidinemia
• Histidinemia
• Histidinuria renal tubular defect
• Histiocytic necrotising lymphadenitis - See Kikuchi disease
• Histiocytic necrotizing lymphadenitis - See Kikuchi disease
• Histiocytoid cardiomyopathy - See Infantile histiocytoid cardiomyopathy
• Histiocytosis with joint contractures and sensorineural deafness - See Histiocytosis-lymphadenopathy plus syndrome
• Histiocytosis X - See Langerhans cell histiocytosis
• Histiocytosis, Non-Langerhans-Cell - See Non-Langerhans-Cell Histiocytosis
• Histiocytosis, sea-blue - See Sea-Blue histiocytosis
• Histiocytosis-lymphadenopathy plus syndrome
• HIT - See Heparin-induced thrombocytopenia
• HIVEP2-related intellectual disability
• HJCD - See Histiocytosis-lymphadenopathy plus syndrome
• HJMD - See Juvenile macular degeneration and hypotrichosis
• HLA class 1 deficiency - See Bare lymphocyte syndrome
• HLD5 - See Hypomyelination and congenital cataract
• HLD6 - See Hypomyelination with atrophy of basal ganglia and cerebellum
• HLH - See Hemophagocytic lymphohistiocytosis
• HLH2 - See Hemophagocytic lymphohistiocytosis, familial, 2
• HLH3 - See Hemophagocytic lymphohistiocytosis, familial, 3
• HLH4 - See Hemophagocytic lymphohistiocytosis, familial, 4
• HLHS - See Hypoplastic left heart syndrome
• HLP - See Hyperkeratosis lenticularis perstans
• HLRCC - See Hereditary leiomyomatosis and renal cell cancer
• HLS - See Hydrolethalus syndrome
• HLTS - See Hypotrichosis-lymphedema-telangiectasia syndrome
• Hm syndrome
• HMBS deficiency - See Acute intermittent porphyria
• HMC syndrome - See Bixler Christian Gorlin syndrome
• HMCS - See McKusick Kaufman syndrome
• HME - See Human monocytic ehrlichiosis
• HMERF - See Hereditary proximal myopathy with early respiratory failure
• HMERF-ERF - See Hereditary proximal myopathy with early respiratory failure
• HMG CoA lyase deficiency
• HMG CoA synthetase deficiency
• HMG-CoA lyase deficiency - See HMG CoA lyase deficiency
• HMN VI - See Spinal muscular atrophy with respiratory distress 1
• HMN6 - See Spinal muscular atrophy with respiratory distress 1
• HMNJ - See Neuropathy, distal hereditary motor, Jerash type
• HMO - See Hereditary multiple osteochondromas
• HMS - See Haim-Munk syndrome
• HMSN - 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
• Hypersensitivity pneumonitis - See 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
• Hypertrichosis lanuginosa congenita - See Hypertrichosis universalis
• Hypertrichosis lanuginosa universalis - See Hypertrichosis lanuginosa congenita
• Hypertrichosis lanuginosa, acquired
• Hypertrichosis terminalis, generalized, with gingival hyperplasia - See Gingival fibromatosis with hypertrichosis
• Hypertrichosis universalis
• Hypertrichosis universalis - See Hypertrichosis lanuginosa congenita
• 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
• Hyporeninemic hypoaldosteronism
• Hyposmia nasal hypoplasia hypogonadism
• Hypospadias familial
• Hypospadias intellectual deficit Goldblatt type - See Hypospadias-intellectual disability, Goldblatt type syndrome
• Hypospadias mental retardation syndrome (formerly) - See Hypospadias-intellectual disability, Goldblatt type syndrome
• Hypospadias-dysphagia, syndrome - See Opitz G/BBB syndrome
• Hypospadias-intellectual disability, Goldblatt type syndrome
• Hypotelorism cleft palate hypospadias
• Hypothalamic dysfunction
• Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - See Pallister-Hall syndrome
• Hypothalamic hamartomas
• 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