About   Help   FAQ
Human Disease Vocabulary Browser
The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database).
Browse vocabulary terms by beginning character
 
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9
 
Human Diseases/Syndromes Beginning with "H"

To see all annotations for a disease, click the disease name.

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 Impaired Intellectual Development
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:600461 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities
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 Impaired Intellectual Development
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:620952 Homocystinuria-Megaloblastic Anemia, Cbld Type; HMAD
OMIM:236270 Homocystinuria-Megaloblastic Anemia, Cble Type; HMAE
OMIM:250940 Homocystinuria-Megaloblastic Anemia, Cblg 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:300064 Hyde-Forster Syndrome
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, Impaired Intellectual Development, 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: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 Impaired Intellectual Development 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; XLHRD
OMIM:300554 Hypophosphatemic Rickets, X-Linked Recessive; XLHRR
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-Impaired Intellectual Development 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
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory