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Human Disease Vocabulary Browser
The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database).
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Human Diseases/Syndromes Beginning with "H"

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OMIM IDHuman Disease
OMIM:612946 Hadziselimovic Syndrome
OMIM:169600 Hailey-Hailey Disease; HHD
OMIM:245010 Haim-Munk Syndrome; HMS
OMIM:234030 Hair Defect with Photosensitivity and Mental Retardation
OMIM:139500 Hairy Ears
OMIM:425500 Hairy Ears, Y-Linked
OMIM:139600 Hairy Elbows
OMIM:139630 Hairy Nose Tip
OMIM:139650 Hairy Palms and Soles
OMIM:102500 Hajdu-Cheney Syndrome; HJCYS
OMIM:234100 Hallermann-Streiff Syndrome; HSS
OMIM:234250 Hall-Riggs Syndrome
OMIM:234280 Hallux Varus and Preaxial Polysyndactyly
OMIM:234300 Halo Nevi
OMIM:234350 Halothane Hepatitis
OMIM:618651 Halperin-Birk Syndrome; HLBKS
OMIM:611174 Hamamy Syndrome; HMMS
OMIM:609808 Hamartoma, Precalcaneal Congenital Fibrolipomatous
OMIM:139750 Hand and Foot Deformity with Flat Facies
OMIM:139800 Hand Clasping Pattern
OMIM:140000 Hand-Foot-Genital Syndrome; HFG
OMIM:613343 Handigodu Joint Disease
OMIM:616863 Hao-Fountain Syndrome; HAFOUS
OMIM:618892 Harderoporphyria; HARPO
OMIM:301068 Hardikar Syndrome; HDKR
OMIM:617183 Harel-Yoon Syndrome; HAYOS
OMIM:601095 Harrod Syndrome
OMIM:234500 Hartnup Disorder; HND
OMIM:615465 Hartsfield Syndrome; HRTFDS
OMIM:140300 Hashimoto Thyroiditis
OMIM:620331 Hatipoglu Immunodeficiency Syndrome; HATIS
OMIM:140350 Hawkinsinuria; HWKS
OMIM:607504 Headache Associated with Sexual Activity; HSA
OMIM:613290 Hearing Loss, Cisplatin-Induced, Susceptibility To; CIHL
OMIM:613035 Hearing Loss, Noise-Induced, Susceptibility To; NIHL
OMIM:616920 Heart and Brain Malformation Syndrome; HBMS
OMIM:234700 Heart Block, Congenital
OMIM:600001 Heart Defects, Congenital, and Other Congenital Anomalies; HDCA
OMIM:610140 Heart-Hand Syndrome, Slovenian Type
OMIM:140450 Heart-Hand Syndrome, Spanish Type
OMIM:234750 Heart, Malformation of
OMIM:140500 Heart, Malformation of
OMIM:610157 Heat-Shock RNA 1
OMIM:234580 Heimler Syndrome 1; HMLR1
OMIM:616617 Heimler Syndrome 2; HMLR2
OMIM:140700 Heinz Body Anemias
OMIM:600263 Helicobacter Pylori Infection, Susceptibility to
OMIM:617671 Helix Syndrome; HELIX
OMIM:615873 Helsmoortel-Van Der Aa Syndrome; HVDAS
OMIM:602089 Hemangioma, Capillary Infantile
OMIM:140850 Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe
OMIM:140900 Hemangiomas of Small Intestine
OMIM:141000 Hemangioma-Thrombocytopenia Syndrome
OMIM:234800 Hemangiomatosis, Cutaneous, with Associated Features
OMIM:234820 Hemangiopericytoma, Malignant
OMIM:300129 Hematopoietic Stem Cell Kinetics, Control of
OMIM:141200 Hematuria, Benign Familial, 1; BFH1
OMIM:620320 Hematuria, Benign Familial, 2; BFH2
OMIM:614034 Heme Oxygenase 1 Deficiency; HMOX1D
OMIM:141300 Hemifacial Atrophy, Progressive; HFA
OMIM:133900 Hemifacial Hyperplasia
OMIM:141350 Hemifacial Hyperplasia with Strabismus
OMIM:141400 Hemifacial Microsomia with Radial Defects
OMIM:606773 Hemifacial Myohyperplasia; HFMH
OMIM:141405 Hemifacial Spasm, Familial
OMIM:235000 Hemihyperplasia, Isolated; IH
OMIM:231100 Hemochromatosis, Neonatal
OMIM:235200 Hemochromatosis, Type 1; HFE1
OMIM:602390 Hemochromatosis, Type 2A; HFE2A
OMIM:613313 Hemochromatosis, Type 2B; HFE2B
OMIM:604250 Hemochromatosis, Type 3; HFE3
OMIM:606069 Hemochromatosis, Type 4; HFE4
OMIM:615517 Hemochromatosis, Type 5; HFE5
OMIM:613978 Hemoglobin H Disease; HBH
OMIM:142309 Hemoglobin--Variants for which the Chain Carrying the Mutation is Unknown or Uncertain
OMIM:612300 Hemolytic Anemia, Cd59-Mediated, with or without Immune-Mediated Polyneuropathy; HACD59
OMIM:301015 Hemolytic Anemia, Congenital, X-Linked; HACXL
OMIM:618660 Hemolytic Anemia Due to Glutathione Reductase Deficiency
OMIM:600461 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities
OMIM:613470 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency
OMIM:235700 Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency
OMIM:235370 Hemolytic Anemia with Thermal Sensitivity of Red Cells
OMIM:619462 Hemolytic Disease of Fetus and Newborn, Rh-Induced; HDFNRH
OMIM:141700 Hemolytic Poikilocytic Anemia Due to Reduced Ankyrin Binding Sites
OMIM:301110 Hemolytic Uremic Syndrome, Atypical, 8, with Rhizomelic Short Stature; AHUS8
OMIM:235400 Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1; AHUS1
OMIM:612922 Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 2; AHUS2
OMIM:612923 Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 3; AHUS3
OMIM:612924 Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 4; AHUS4
OMIM:612925 Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 5; AHUS5
OMIM:612926 Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 6; AHUS6
OMIM:267700 Hemophagocytic Lymphohistiocytosis, Familial, 1; FHL1
OMIM:603553 Hemophagocytic Lymphohistiocytosis, Familial, 2; FHL2
OMIM:608898 Hemophagocytic Lymphohistiocytosis, Familial, 3; FHL3
OMIM:603552 Hemophagocytic Lymphohistiocytosis, Familial, 4; FHL4
OMIM:613101 Hemophagocytic Lymphohistiocytosis, Familial, 5, with or without Microvillus Inclusion Disease; FHL5
OMIM:306700 Hemophilia A; HEMA
OMIM:306800 Hemophilia A with Vascular Abnormality
OMIM:306900 Hemophilia B; HEMB
OMIM:306930 Hemopoietic Proliferation
OMIM:614519 Hemorrhage, Intracerebral, Susceptibility To; ICH
OMIM:613730 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts; HDBSCC
OMIM:235500 Hemosiderosis, Pulmonary, with Deficiency of Gamma-A Globulin
OMIM:619641 Hengel-Maroofian-Schols Syndrome; HEMARS
OMIM:235510 Hennekam Lymphangiectasia-Lymphedema Syndrome 1; HKLLS1
OMIM:616006 Hennekam Lymphangiectasia-Lymphedema Syndrome 2; HKLLS2
OMIM:618154 Hennekam Lymphangiectasia-Lymphedema Syndrome 3; HKLLS3
OMIM:612356 Heparin Cofactor II Deficiency
OMIM:142330 Hepatic Adenomas, Familial
OMIM:604201 Hepatic Fibrosis, Severe, Susceptibility to, Due to Schistosoma Mansoni Infection
OMIM:614025 Hepatic Lipase Deficiency
OMIM:235550 Hepatic Venoocclusive Disease with Immunodeficiency; VODI
OMIM:610424 Hepatitis B Virus, Susceptibility to
OMIM:609532 Hepatitis C Virus, Susceptibility to
OMIM:618549 Hepatitis, Fulminant Viral, Susceptibility To; FVH
OMIM:114550 Hepatocellular Carcinoma
OMIM:619902 Hepatorenocardiac Degenerative Fibrosis; HRCDF
OMIM:150800 Hereditary Leiomyomatosis and Renal Cell Cancer; HLRCC
OMIM:606071 Hereditary Motor and Sensory Neuropathy, Type IIC; HMSN2C
OMIM:600361 Hereditary Motor and Sensory Neuropathy V
OMIM:617050 Hermansky-Pudlak Syndrome 10; HPS10
OMIM:619172 Hermansky-Pudlak Syndrome 11; HPS11
OMIM:203300 Hermansky-Pudlak Syndrome 1; HPS1
OMIM:608233 Hermansky-Pudlak Syndrome 2; HPS2
OMIM:614072 Hermansky-Pudlak Syndrome 3; HPS3
OMIM:614073 Hermansky-Pudlak Syndrome 4; HPS4
OMIM:614074 Hermansky-Pudlak Syndrome 5; HPS5
OMIM:614075 Hermansky-Pudlak Syndrome 6; HPS6
OMIM:614076 Hermansky-Pudlak Syndrome 7; HPS7
OMIM:614077 Hermansky-Pudlak Syndrome 8; HPS8
OMIM:614171 Hermansky-Pudlak Syndrome 9; HPS9
OMIM:142350 Hernia, Double Inguinal
OMIM:142400 Hernia, Hiatus
OMIM:142500 Heterochromia Iridis
OMIM:619607 Heterotaxy, Visceral, 10, Autosomal, with Male Infertility; HTX10
OMIM:619608 Heterotaxy, Visceral, 11, Autosomal, with Male Infertility; HTX11
OMIM:619702 Heterotaxy, Visceral, 12, Autosomal; HTX12
OMIM:306955 Heterotaxy, Visceral, 1, X-Linked; HTX1
OMIM:605376 Heterotaxy, Visceral, 2, Autosomal; HTX2
OMIM:606325 Heterotaxy, Visceral, 3, Autosomal; HTX3
OMIM:613751 Heterotaxy, Visceral, 4, Autosomal; HTX4
OMIM:270100 Heterotaxy, Visceral, 5, Autosomal; HTX5
OMIM:614779 Heterotaxy, Visceral, 6, Autosomal; HTX6
OMIM:616749 Heterotaxy, Visceral, 7, Autosomal; HTX7
OMIM:617205 Heterotaxy, Visceral, 8, Autosomal; HTX8
OMIM:618948 Heterotaxy, Visceral, 9, Autosomal, with Male Infertility; HTX9
OMIM:618724 Heyn-Sproul-Jackson Syndrome; HESJAS
OMIM:306960 HHHH Syndrome
OMIM:619311 Hiatt-Neu-Cooper Neurodevelopmental Syndrome; HINCONS
OMIM:618979 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7; HDLCQ7
OMIM:228960 High Molecular Weight Kininogen Deficiency
OMIM:301094 Hijazi-Reis Syndrome; HIJRS
OMIM:613870 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction;
OMIM:142623 Hirschsprung Disease, Susceptibility to, 1; HSCR1
OMIM:600155 Hirschsprung Disease, Susceptibility to, 2; HSCR2
OMIM:613711 Hirschsprung Disease, Susceptibility to, 3; HSCR3
OMIM:613712 Hirschsprung Disease, Susceptibility to, 4; HSCR4
OMIM:600156 Hirschsprung Disease, Susceptibility to, 5; HSCR5
OMIM:606874 Hirschsprung Disease, Susceptibility to, 6; HSCR6
OMIM:606875 Hirschsprung Disease, Susceptibility to, 7; HSCR7
OMIM:608462 Hirschsprung Disease, Susceptibility to, 8; HSCR8
OMIM:611644 Hirschsprung Disease, Susceptibility to, 9; HSCR9
OMIM:604211 Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
OMIM:235760 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features
OMIM:235740 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
OMIM:306980 Hirschsprung Disease with Type D Brachydactyly
OMIM:235750 Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect
OMIM:142625 Hirsutism, Skeletal Dysplasia, and Mental Retardation
OMIM:235800 Histidinemia
OMIM:235830 Histidinuria Due to A Renal Tubular Defect
OMIM:142730 Histiocytic Dermatoarthritis
OMIM:612160 Histiocytoma, Angiomatoid Fibrous
OMIM:235900 Histiocytosis, Familial Lipochrome
OMIM:602782 Histiocytosis-Lymphadenopathy Plus Syndrome
OMIM:142630 Histiocytosis, Progressive Mucinous
OMIM:142770 HLA Modifier
OMIM:253270 Holocarboxylase Synthetase Deficiency
OMIM:614226 Holoprosencephaly 11; HPE11
OMIM:618500 Holoprosencephaly 12 with or without Pancreatic Agenesis; HPE12
OMIM:301043 Holoprosencephaly 13, X-Linked; HPE13
OMIM:619895 Holoprosencephaly 14; HPE14
OMIM:236100 Holoprosencephaly 1; HPE1
OMIM:157170 Holoprosencephaly 2; HPE2
OMIM:142945 Holoprosencephaly 3; HPE3
OMIM:142946 Holoprosencephaly 4; HPE4
OMIM:609637 Holoprosencephaly 5; HPE5
OMIM:605934 Holoprosencephaly 6; HPE6
OMIM:610828 Holoprosencephaly 7; HPE7
OMIM:609408 Holoprosencephaly 8; HPE8
OMIM:610829 Holoprosencephaly 9; HPE9
OMIM:610680 Holoprosencephaly, Recurrent Infections, and Monocytosis
OMIM:601370 Holoprosencephaly, Semilobar, with Craniosynostosis
OMIM:142900 Holt-Oram Syndrome; HOS
OMIM:236110 Holzgreve Syndrome
OMIM:236130 Homocarnosinosis
OMIM:236200 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
OMIM:236250 Homocystinuria Due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity
OMIM:236270 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type; HMAE
OMIM:250940 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type; HMAG
OMIM:606528 Homozygous 11p15-P14 Deletion Syndrome
OMIM:236300 Hooft Disease
OMIM:143000 Horner Syndrome, Congenital
OMIM:616355 Houge-Janssens Syndrome 1; HJS1
OMIM:616362 Houge-Janssens Syndrome 2; HJS2
OMIM:618354 Houge-Janssens Syndrome 3; HJS3
OMIM:620662 Hoxha-Aliu Syndrome; HXAL
OMIM:143020 Hpa I Recognition Polymorphism, Beta-Globin-Related; HPA1
OMIM:605959 Hr44 Antigen
OMIM:300438 Hsd10 Mitochondrial Disease; HSD10MD
OMIM:122460 Human Coronavirus Sensitivity; HCVS
OMIM:614836 Human Herpesvirus 8, Susceptibility To; HHV8S
OMIM:604474 Human Herpesvirus Type 6, Integrated
OMIM:609423 Human Immunodeficiency Virus Type 1, Susceptibility to
OMIM:600762 Human Papillomavirus E5 Central Sequence-Like 1; HPVC1
OMIM:167959 Human Papillomavirus Type 18 Integration Site 1; HPV18I1
OMIM:167960 Human Papillomavirus Type 18 Integration Site 2; HPV18I2
OMIM:618022 Humerofemoral Hypoplasia with Radiotibial Ray Deficiency; HHRRD
OMIM:236400 Humeroradial Synostosis
OMIM:143050 Humeroradial Synostosis
OMIM:236410 Humeroradial Synostosis with Craniofacial Anomalies
OMIM:611962 Hunter-Macdonald Syndrome
OMIM:601379 Hunter-Mcalpine Craniosynostosis Syndrome
OMIM:143100 Huntington Disease; HD
OMIM:603218 Huntington Disease-Like 1; HDL1
OMIM:606438 Huntington Disease-Like 2; HDL2
OMIM:604802 Huntington Disease-Like 3; HDL3
OMIM:614482 Huppke-Brendel Syndrome; HPBDS
OMIM:181600 Huriez Syndrome; HRZ
OMIM:607015 Hurler-Scheie Syndrome
OMIM:607014 Hurler Syndrome
OMIM:176670 Hutchinson-Gilford Progeria Syndrome; HGPS
OMIM:236450 Hutterite Cerebroosteonephrodysplasia Syndrome
OMIM:228600 Hyaline Fibromatosis Syndrome; HFS
OMIM:604855 Hyaluronan Metabolism, Defect in
OMIM:231090 Hydatidiform Mole, Recurrent, 1; HYDM1
OMIM:614293 Hydatidiform Mole, Recurrent, 2; HYDM2
OMIM:618431 Hydatidiform Mole, Recurrent, 3; HYDM3
OMIM:618432 Hydatidiform Mole, Recurrent, 4; HYDM4
OMIM:603794 Hydroa Vacciniforme, Familial
OMIM:123155 Hydrocephalus, Autosomal Dominant; HDCPH1
OMIM:236600 Hydrocephalus, Congenital, 1; HYC1
OMIM:615219 Hydrocephalus, Congenital, 2, with or without Brain or Eye Anomalies;
OMIM:617967 Hydrocephalus, Congenital, 3, with Brain Anomalies; HYC3
OMIM:618667 Hydrocephalus, Congenital, 4; HYC4
OMIM:620241 Hydrocephalus, Congenital, 5, Susceptibility To; HYC5
OMIM:307000 Hydrocephalus, Congenital, X-Linked; HYCX
OMIM:236635 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius
OMIM:600559 Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
OMIM:236690 Hydrocephalus, Normal-Pressure, 1; HYDNP1
OMIM:600991 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia
OMIM:236660 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis
OMIM:236640 Hydrocephalus with Associated Malformations
OMIM:307010 Hydrocephalus with Cerebellar Agenesis
OMIM:236680 Hydrolethalus Syndrome 1; HLS1
OMIM:614120 Hydrolethalus Syndrome 2; HLS2
OMIM:236750 Hydrops Fetalis, Nonimmune; NIHF
OMIM:613124 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism
OMIM:617021 Hydrops, Lactic Acidosis, and Sideroblastic Anemia; HLASA
OMIM:614033 Hydroxyacyl Glutathione Hydrolase Deficiency
OMIM:236800 Hydroxykynureninuria
OMIM:236900 Hydroxylysinuria
OMIM:237000 Hydroxyprolinemia
OMIM:237100 Hymen, Imperforate
OMIM:103900 Hyperaldosteronism, Familial, Type I; HALD1
OMIM:605635 Hyperaldosteronism, Familial, Type II; HALD2
OMIM:613677 Hyperaldosteronism, Familial, Type III; HALD3
OMIM:617027 Hyperaldosteronism, Familial, Type IV; HALD4
OMIM:143470 Hyperalphalipoproteinemia 1; HALP1
OMIM:237400 Hyper-Beta-Alaninemia
OMIM:237550 Hyperbilirubinemia, Conjugated, Type III
OMIM:237450 Hyperbilirubinemia, Rotor Type; HBLRR
OMIM:237800 Hyperbilirubinemia, Shunt, Primary; PSHB
OMIM:237900 Hyperbilirubinemia, Transient Familial Neonatal; HBLRTFN
OMIM:614156 Hyperbiliverdinemia; HBLVD
OMIM:143880 Hypercalcemia, Infantile, 1; HCINF1
OMIM:616963 Hypercalcemia, Infantile, 2; HCINF2
OMIM:607258 Hypercalciuria, Absorptive, 1
OMIM:143870 Hypercalciuria, Absorptive, 2; HCA2
OMIM:115300 Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant; HCVAD
OMIM:277350 Hypercarotenemia and Vitamin A Deficiency, Autosomal Recessive
OMIM:143860 Hyperchlorhidrosis, Isolated; HYCHL
OMIM:607748 Hypercholanemia, Familial 1; FHCA1
OMIM:619256 Hypercholanemia, Familial, 2; FHCA2
OMIM:143890 Hypercholesterolemia, Familial, 1; FHCL1
OMIM:144010 Hypercholesterolemia, Familial, 2; FHCL2
OMIM:603776 Hypercholesterolemia, Familial, 3; FHCL3
OMIM:603813 Hypercholesterolemia, Familial, 4; FHCL4
OMIM:149400 Hyperekplexia 1; HKPX1
OMIM:614619 Hyperekplexia 2; HKPX2
OMIM:614618 Hyperekplexia 3; HKPX3
OMIM:618011 Hyperekplexia 4; HKPX4
OMIM:620730 Hyperemesis Gravidarum, Susceptibility To; HG
OMIM:607685 Hypereosinophilic Syndrome, Idiopathic; HES
OMIM:620729 Hyperferritinemia; HRFT
OMIM:600886 Hyperferritinemia with or without Cataract; HRFTC
OMIM:614462 Hyperglycinemia, Lactic Acidosis, and Seizures; HGCLAS
OMIM:138500 Hyperglycinuria
OMIM:241090 Hypergonadotropic Hypogonadism and Partial Alopecia
OMIM:144050 Hyperheparinemia
OMIM:144100 Hyperhidrosis, Gustatory; HYPRG
OMIM:144110 Hyperhidrosis Palmaris Et Plantaris; HYPRPP
OMIM:603174 Hyperhomocysteinemia
OMIM:260920 Hyper-IgD Syndrome; HIDS
OMIM:147060 Hyper-Ige Syndrome 1, Autosomal Dominant, with Recurrent Infections;
OMIM:243700 Hyper-Ige Syndrome 2, Autosomal Recessive, with Recurrent Infections;
OMIM:618282 Hyper-Ige Syndrome 3, Autosomal Recessive, with Recurrent Infections;
OMIM:619752 Hyper-Ige Syndrome 4a, Autosomal Dominant, with Recurrent Infections;
OMIM:618523 Hyper-Ige Syndrome 4b, Autosomal Recessive, with Recurrent Infections; HIES4B
OMIM:618944 Hyper-Ige Syndrome 5, Autosomal Recessive, with Recurrent Infections;
OMIM:620532 Hyper-Ige Syndrome 6, Autosomal Dominant, with Recurrent Infections;
OMIM:144120 Hyperimmunoglobulin G1(a1) Syndrome
OMIM:256450 Hyperinsulinemic Hypoglycemia, Familial, 1; HHF1
OMIM:601820 Hyperinsulinemic Hypoglycemia, Familial, 2; HHF2
OMIM:602485 Hyperinsulinemic Hypoglycemia, Familial, 3; HHF3
OMIM:609975 Hyperinsulinemic Hypoglycemia, Familial, 4; HHF4
OMIM:609968 Hyperinsulinemic Hypoglycemia, Familial, 5; HHF5
OMIM:606762 Hyperinsulinemic Hypoglycemia, Familial, 6; HHF6
OMIM:610021 Hyperinsulinemic Hypoglycemia, Familial, 7; HHF7
OMIM:620211 Hyperinsulinemic Hypoglycemia, Familial, 8; HHF8
OMIM:170500 Hyperkalemic Periodic Paralysis; HYPP
OMIM:144190 Hyperkeratosis-Hyperpigmentation Syndrome
OMIM:144150 Hyperkeratosis Lenticularis Perstans; HLP
OMIM:238340 Hyperleucine-Isoleucinemia
OMIM:238350 Hyperlexia
OMIM:602491 Hyperlipidemia, Familial Combined, 1; FCHL1
OMIM:604499 Hyperlipidemia, Familial Combined, 2; FCHL2
OMIM:144250 Hyperlipidemia, Familial Combined, 3; FCHL3
OMIM:238600 Hyperlipoproteinemia, Type I
OMIM:615947 Hyperlipoproteinemia, Type ID
OMIM:144300 Hyperlipoproteinemia, Type II, and Deafness
OMIM:617347 Hyperlipoproteinemia, Type III
OMIM:144600 Hyperlipoproteinemia, Type IV
OMIM:144650 Hyperlipoproteinemia, Type V
OMIM:238710 Hyperlysinemia Due to Defect in Lysine Transport Into Mitochondria
OMIM:238700 Hyperlysinemia, Type I
OMIM:238750 Hyperlysinuria with Hyperammonemia
OMIM:613280 Hypermanganesemia with Dystonia 1; HMNDYT1
OMIM:617013 Hypermanganesemia with Dystonia 2; HMNDYT2
OMIM:238800 Hypermetabolism Due to Uncoupled Mitochondrial Oxidative Phosphorylation 1; HUMOP1
OMIM:620085 Hypermetabolism Due to Uncoupled Mitochondrial Oxidative Phosphorylation 2; HUMOP2
OMIM:614300 Hypermethioninemia Due to Adenosine Kinase Deficiency
OMIM:613752 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency
OMIM:238950 Hyperopia, High
OMIM:238970 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome; HHHS
OMIM:144755 Hyperostosis Cranialis Interna; HCIN
OMIM:144800 Hyperostosis Frontalis Interna
OMIM:259900 Hyperoxaluria, Primary, Type I; HP1
OMIM:260000 Hyperoxaluria, Primary, Type II; HP2
OMIM:613616 Hyperoxaluria, Primary, Type III; HP3
OMIM:145000 Hyperparathyroidism 1; HRPT1
OMIM:145001 Hyperparathyroidism 2 with Jaw Tumors; HRPT2
OMIM:610071 Hyperparathyroidism 3; HRPT3
OMIM:617343 Hyperparathyroidism 4; HRPT4
OMIM:239199 Hyperparathyroidism, Neonatal Self-Limited Primary, with Hypercalciuria
OMIM:239200 Hyperparathyroidism, Neonatal Severe; NSHPT
OMIM:600166 Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia
OMIM:618188 Hyperparathyroidism, Transient Neonatal; HRPTTN
OMIM:261640 Hyperphenylalaninemia, Bh4-Deficient, A; HPABH4A
OMIM:233910 Hyperphenylalaninemia, Bh4-Deficient, B; HPABH4B
OMIM:261630 Hyperphenylalaninemia, Bh4-Deficient, C; HPABH4C
OMIM:264070 Hyperphenylalaninemia, Bh4-Deficient, D; HPABH4D
OMIM:617384 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient; HPANBH4
OMIM:239300 Hyperphosphatasia with Impaired Intellectual Development Syndrome 1;
OMIM:614749 Hyperphosphatasia with Impaired Intellectual Development Syndrome 2;
OMIM:614207 Hyperphosphatasia with Impaired Intellectual Development Syndrome 3;
OMIM:615716 Hyperphosphatasia with Impaired Intellectual Development Syndrome 4;
OMIM:616809 Hyperphosphatasia with Impaired Intellectual Development Syndrome 6;
OMIM:239350 Hyperphosphatemia, Polyuria, and Seizures
OMIM:614233 Hyperpigmentation, Familial Progressive, 1; FPH1
OMIM:145100 Hyperpigmentation of Eyelids
OMIM:145200 Hyperpigmentation of Fuldauer and Kuijpers
OMIM:145250 Hyperpigmentation with or without Hypopigmentation, Familial Progressive; FPHH
OMIM:145270 Hyperproglucagonemia
OMIM:616214 Hyperproinsulinemia
OMIM:615555 Hyperprolactinemia; HPRL
OMIM:239500 Hyperprolinemia, Type I; HYRPRO1
OMIM:239510 Hyperprolinemia, Type II; HYRPRO2
OMIM:145290 Hyperreflexia; HRX
OMIM:606984 Hyperreninemic Hypoaldosteronism, Familial, 2
OMIM:145295 Hypersecretion of Adrenal Androgens, Familial
OMIM:145300 Hypersensitivity Pneumonitis, Familial
OMIM:620372 Hypersulfaturia; HYSULF
OMIM:145400 Hypertelorism
OMIM:614684 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes
OMIM:239711 Hypertelorism and Tetralogy of Fallot
OMIM:239800 Hypertelorism, Microtia, Facial Clefting Syndrome
OMIM:614187 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness; HPPD
OMIM:112410 Hypertension and Brachydactyly Syndrome; HTNB
OMIM:605115 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
OMIM:145500 Hypertension, Essential
OMIM:603918 Hypertension, Essential, Susceptibility to, 1
OMIM:604329 Hypertension, Essential, Susceptibility to, 2
OMIM:607329 Hypertension, Essential, Susceptibility to, 3
OMIM:608742 Hypertension, Essential, Susceptibility to, 4
OMIM:610261 Hypertension, Essential, Susceptibility to, 5
OMIM:610262 Hypertension, Essential, Susceptibility to, 6
OMIM:610948 Hypertension, Essential, Susceptibility to, 7
OMIM:611014 Hypertension, Essential, Susceptibility to, 8; HYT8
OMIM:608026 Hypertensive Nephropathy; HNP1
OMIM:145590 Hyperthermia, Cutaneous, with Headaches and Nausea
OMIM:603373 Hyperthyroidism, Familial Gestational
OMIM:609152 Hyperthyroidism, Nonautoimmune
OMIM:145680 Hyperthyroxinemia, Dystransthyretinemic; DTTRH
OMIM:617953 Hyperthyroxinemia, Euthyroid, Caused By Generalized 5-Prime-Deiodinase Deficiency
OMIM:615999 Hyperthyroxinemia, Familial Dysalbuminemic; FDAH
OMIM:600457 Hypertrichosis, Anterior Cervical
OMIM:239840 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy
OMIM:307150 Hypertrichosis, Congenital Generalized, 2; HTC2
OMIM:135400 Hypertrichosis, Congenital Generalized, 3, with or without Gingival Hyperplasia; HTC3
OMIM:145700 Hypertrichosis Lanuginosa Congenita
OMIM:145701 Hypertrichosis Universalis Congenita, Ambras Type; HTC1
OMIM:145750 Hypertriglyceridemia 1; HYTG1
OMIM:619324 Hypertriglyceridemia 2; HYTG2
OMIM:614480 Hypertriglyceridemia, Transient Infantile; HTGTI
OMIM:145800 Hypertrophia Musculorum Vera
OMIM:239900 Hypertrophic Neuropathy and Cataract
OMIM:145900 Hypertrophic Neuropathy of Dejerine-Sottas
OMIM:167100 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant; PHOAD
OMIM:259100 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1;
OMIM:113670 Hypertrophy of the Breast, Juvenile; JHB
OMIM:600627 Hypertryptophanemia; HYPTRP
OMIM:300323 Hyperuricemia, Hprt-Related; HRH
OMIM:240000 Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase
OMIM:613845 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome; HUPRAS
OMIM:614227 Hyperuricemic Nephropathy, Familial Juvenile, 3; HNFJ3
OMIM:618850 Hypervalinemia and Hyperleucine-Isoleucinemia; HVLI
OMIM:240150 Hypervitaminosis A, Susceptibility to
OMIM:601979 Hyperzincemia with Functional Zinc Depletion
OMIM:240200 Hypoadrenocorticism, Familial
OMIM:604091 Hypoalphalipoproteinemia, Primary, 1
OMIM:618463 Hypoalphalipoproteinemia, Primary, 2
OMIM:619836 Hypoalphalipoproteinemia, Primary, 2, Intermediate
OMIM:240400 Hypoascorbemia
OMIM:615558 Hypobetalipoproteinemia, Familial, 1; FHBL1
OMIM:605019 Hypobetalipoproteinemia, Familial, 2; FHBL2
OMIM:601198 Hypocalcemia, Autosomal Dominant 1; HYPOC1
OMIM:615361 Hypocalcemia, Autosomal Dominant 2; HYPOC2
OMIM:145980 Hypocalciuric Hypercalcemia, Familial, Type I; HHC1
OMIM:145981 Hypocalciuric Hypercalcemia, Familial, Type II; HHC2
OMIM:600740 Hypocalciuric Hypercalcemia, Familial, Type III; HHC3
OMIM:146000 Hypochondroplasia; HCH
OMIM:103300 Hypoglossia-Hypodactylia
OMIM:612776 Hypoglossia with Situs Inversus
OMIM:240800 Hypoglycemia, Leucine-Induced; LIH
OMIM:240950 Hypogonadism-Cataract Syndrome
OMIM:241100 Hypogonadism, Male
OMIM:307500 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies
OMIM:241000 Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
OMIM:614839 Hypogonadotropic Hypogonadism 10 with or without Anosmia; HH10
OMIM:614840 Hypogonadotropic Hypogonadism 11 with or without Anosmia; HH11
OMIM:614841 Hypogonadotropic Hypogonadism 12 with or without Anosmia; HH12
OMIM:614842 Hypogonadotropic Hypogonadism 13 with or without Anosmia; HH13
OMIM:614858 Hypogonadotropic Hypogonadism 14 with or without Anosmia; HH14
OMIM:614880 Hypogonadotropic Hypogonadism 15 with or without Anosmia; HH15
OMIM:614897 Hypogonadotropic Hypogonadism 16 with or without Anosmia; HH16
OMIM:615266 Hypogonadotropic Hypogonadism 17 with or without Anosmia; HH17
OMIM:615267 Hypogonadotropic Hypogonadism 18 with or without Anosmia; HH18
OMIM:615269 Hypogonadotropic Hypogonadism 19 with or without Anosmia; HH19
OMIM:308700 Hypogonadotropic Hypogonadism 1 with or without Anosmia; HH1
OMIM:615270 Hypogonadotropic Hypogonadism 20 with or without Anosmia; HH20
OMIM:615271 Hypogonadotropic Hypogonadism 21 with or without Anosmia; HH21
OMIM:616030 Hypogonadotropic Hypogonadism 22 with or without Anosmia; HH22
OMIM:228300 Hypogonadotropic Hypogonadism 23 with or without Anosmia; HH23
OMIM:229070 Hypogonadotropic Hypogonadism 24 with or without Anosmia; HH24
OMIM:618841 Hypogonadotropic Hypogonadism 25 with Anosmia; HH25
OMIM:619718 Hypogonadotropic Hypogonadism 26 with or without Anosmia; HH26
OMIM:619755 Hypogonadotropic Hypogonadism 27 without Anosmia; HH27
OMIM:147950 Hypogonadotropic Hypogonadism 2 with or without Anosmia; HH2
OMIM:244200 Hypogonadotropic Hypogonadism 3 with or without Anosmia; HH3
OMIM:610628 Hypogonadotropic Hypogonadism 4 with or without Anosmia; HH4
OMIM:612370 Hypogonadotropic Hypogonadism 5 with or without Anosmia; HH5
OMIM:612702 Hypogonadotropic Hypogonadism 6 with or without Anosmia; HH6
OMIM:146110 Hypogonadotropic Hypogonadism 7 with or without Anosmia; HH7
OMIM:614837 Hypogonadotropic Hypogonadism 8 with or without Anosmia; HH8
OMIM:614838 Hypogonadotropic Hypogonadism 9 with or without Anosmia; HH9
OMIM:241120 Hypohidrosis with Abnormal Palmar Dermal Ridges
OMIM:240900 Hypoinsulinemic Hypoglycemia with Hemihypertrophy; HIHGHH
OMIM:241150 Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy
OMIM:170400 Hypokalemic Periodic Paralysis, Type 1; HOKPP1
OMIM:613345 Hypokalemic Periodic Paralysis, Type 2; HOKPP2
OMIM:619406 Hypokalemic Tubulopathy and Deafness; HKTD
OMIM:602014 Hypomagnesemia 1, Intestinal; HOMG1
OMIM:154020 Hypomagnesemia 2, Renal; HOMG2
OMIM:248250 Hypomagnesemia 3, Renal; HOMG3
OMIM:611718 Hypomagnesemia 4, Renal; HOMG4
OMIM:248190 Hypomagnesemia 5, Renal, with or without Ocular Involvement; HOMG5
OMIM:613882 Hypomagnesemia 6, Renal; HOMG6
OMIM:620152 Hypomagnesemia 7, Renal, with or without Dilated Cardiomyopathy;
OMIM:500005 Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial
OMIM:616418 Hypomagnesemia, Seizures, and Impaired Intellectual Development 1;
OMIM:618314 Hypomagnesemia, Seizures, and Impaired Intellectual Development 2;
OMIM:241310 Hypomandibular Faciocranial Dysostosis
OMIM:300337 Hypomelanosis of Ito; HMI
OMIM:146160 Hypomelia with Mullerian Duct Anomalies
OMIM:615281 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity; HBSL
OMIM:146200 Hypoparathyroidism, Familial Isolated, 1; FIH1
OMIM:618883 Hypoparathyroidism, Familial Isolated, 2; FIH2
OMIM:241410 Hypoparathyroidism-Retardation-Dysmorphism Syndrome; HRDS
OMIM:146255 Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome; HDRS
OMIM:307700 Hypoparathyroidism, X-Linked; HYPX
OMIM:146300 Hypophosphatasia, Adult; HPPA
OMIM:241510 Hypophosphatasia, Childhood; HPPC
OMIM:241500 Hypophosphatasia, Infantile; HPPI
OMIM:241519 Hypophosphatemia, Renal, with Intracerebral Calcifications
OMIM:146350 Hypophosphatemic Bone Disease; HBD
OMIM:612089 Hypophosphatemic Rickets and Hyperparathyroidism
OMIM:193100 Hypophosphatemic Rickets, Autosomal Dominant; ADHR
OMIM:241520 Hypophosphatemic Rickets, Autosomal Recessive, 1; ARHR1
OMIM:613312 Hypophosphatemic Rickets, Autosomal Recessive, 2; ARHR2
OMIM:241530 Hypophosphatemic Rickets with Hypercalciuria, Hereditary; HHRH
OMIM:307800 Hypophosphatemic Rickets, X-Linked Dominant; XLHR
OMIM:300554 Hypophosphatemic Rickets, X-Linked Recessive
OMIM:618541 Hypopigmentation, Organomegaly, and Delayed Myelination and Development; HOD
OMIM:241540 Hypopituitarism, Congenital, with Central Diabetes Insipidus
OMIM:619545 Hypoplastic Femurs and Pelvis; HYPOFP
OMIM:241550 Hypoplastic Left Heart Syndrome 1; HLHS1
OMIM:614435 Hypoplastic Left Heart Syndrome 2; HLHS2
OMIM:300633 Hypospadias 1, X-Linked; HYSP1
OMIM:300758 Hypospadias 2, X-Linked; HYSP2
OMIM:146450 Hypospadias 3, Autosomal; HYSP3
OMIM:300856 Hypospadias 4, X-Linked, Susceptibility To; HYSP4
OMIM:241760 Hypospadias-Mental Retardation Syndrome
OMIM:145350 Hypotaurinemic Retinal Degeneration and Cardiomyopathy; HTRDC
OMIM:300888 Hypothyroidism, Central, with Testicular Enlargement; CHTE
OMIM:275200 Hypothyroidism, Congenital, Nongoitrous, 1; CHNG1
OMIM:218700 Hypothyroidism, Congenital, Nongoitrous, 2; CHNG2
OMIM:609893 Hypothyroidism, Congenital, Nongoitrous, 3; CHNG3
OMIM:275100 Hypothyroidism, Congenital, Nongoitrous, 4; CHNG4
OMIM:225250 Hypothyroidism, Congenital, Nongoitrous, 5; CHNG5
OMIM:614450 Hypothyroidism, Congenital, Nongoitrous, 6; CHNG6
OMIM:618573 Hypothyroidism, Congenital, Nongoitrous, 7; CHNG7
OMIM:301033 Hypothyroidism, Congenital, Nongoitrous, 8; CHNG8
OMIM:301035 Hypothyroidism, Congenital, Nongoitrous, 9; CHNG9
OMIM:617330 Hypotonia, Ataxia, and Delayed Development Syndrome; HADDS
OMIM:617915 Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome; HADDTS
OMIM:300184 Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses
OMIM:606407 Hypotonia-Cystinuria Syndrome
OMIM:618493 Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities; HIDEA
OMIM:615419 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1; IHPRF1
OMIM:616801 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2; IHPRF2
OMIM:616900 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3; IHPRF3
OMIM:616816 Hypotonia, Infantile, with Psychomotor Retardation; IHPMR
OMIM:612777 Hypotonia, Seizures, and Precocious Puberty
OMIM:614238 Hypotrichosis 10; HYPT10
OMIM:615059 Hypotrichosis 11; HYPT11
OMIM:615885 Hypotrichosis 12; HYPT12
OMIM:615896 Hypotrichosis 13; HYPT13
OMIM:618275 Hypotrichosis 14; HYPT14
OMIM:620177 Hypotrichosis 15; HYPT15
OMIM:605389 Hypotrichosis 1; HYPT1
OMIM:146520 Hypotrichosis 2; HYPT2
OMIM:613981 Hypotrichosis 3; HYPT3
OMIM:146550 Hypotrichosis 4; HYPT4
OMIM:612841 Hypotrichosis 5; HYPT5
OMIM:607903 Hypotrichosis 6; HYPT6
OMIM:604379 Hypotrichosis 7; HYPT7
OMIM:278150 Hypotrichosis 8; HYPT8
OMIM:614237 Hypotrichosis 9; HYPT9
OMIM:613102 Hypotrichosis and Recurrent Skin Vesicles; HYPTSV
OMIM:601553 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy; HJMD
OMIM:137940 Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome; HLTRS
OMIM:607823 Hypotrichosis-Lymphedema-Telangiectasia Syndrome; HLTS
OMIM:607658 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
OMIM:609250 Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate
OMIM:307830 Hypouricemia, Familial Renal, Due to Tubular Hypersecretion
OMIM:242050 Hypouricemia, Hypercalcinuria, and Decreased Bone Density
OMIM:220150 Hypouricemia, Renal, 1; RHUC1
OMIM:612076 Hypouricemia, Renal, 2; RHUC2
OMIM:146580 Hypoxanthine Guanine Phosphoribosyltransferase Suppressor
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04/16/2024
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