| OMIM ID |
Human Disease |
| 612946 |
Hadziselimovic Syndrome |
| 245010 |
Haim-Munk Syndrome; HMS |
| 234030 |
Hair Defect with Photosensitivity and Mental Retardation |
| 139400 |
Hair Whorl |
| 139500 |
Hairy Ears |
| 425500 |
Hairy Ears, Y-Linked |
| 139600 |
Hairy Elbows |
| 605130 |
Hairy Elbows, Short Stature, Facial Dysmorphism, and Developmental Delay |
| 139630 |
Hairy Nose Tip |
| 139650 |
Hairy Palms and Soles |
| 102500 |
Hajdu-Cheney Syndrome; HJCYS |
| 234100 |
Hallermann-Streiff Syndrome; HSS |
| 234250 |
Hall-Riggs Mental Retardation Syndrome |
| 234280 |
Hallux Varus and Preaxial Polysyndactyly |
| 234300 |
Halo Nevi |
| 234350 |
Halothane Hepatitis |
| 611174 |
Hamamy Syndrome; HMMS |
| 609808 |
Hamartoma, Precalcaneal Congenital Fibrolipomatous |
| 139750 |
Hand and Foot Deformity with Flat Facies |
| 139800 |
Hand Clasping Pattern |
| 140000 |
Hand-Foot-Uterus Syndrome (5 mouse models) |
| 613343 |
Handigodu Joint Disease |
| 612726 |
Hardikar Syndrome |
| 601095 |
Harrod Syndrome |
| 234500 |
Hartnup Disorder (1 mouse model) |
| 140300 |
Hashimoto Thyroiditis |
| 140350 |
Hawkinsinuria |
| 607504 |
Headache Associated with Sexual Activity; HSA |
| 613290 |
Hearing Loss, Cisplatin-Induced, Susceptibility To; CIHL |
| 613035 |
Hearing Loss, Noise-Induced, Susceptibility To; NIHL |
| 234580 |
Hearing Loss, Sensorineural, with Enamel Hypoplasia and Nail Defects |
| 234700 |
Heart Block, Congenital |
| 610140 |
Heart-Hand Syndrome, Slovenian Type |
| 140450 |
Heart-Hand Syndrome, Spanish Type |
| 234750 |
Heart, Malformation of |
| 140500 |
Heart, Malformation of |
| 610157 |
Heat-Shock RNA 1 |
| 140700 |
Heinz Body Anemias |
| 600263 |
Helicobacter Pylori Infection, Susceptibility to |
| 602089 |
Hemangioma, Capillary Infantile |
| 140850 |
Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe |
| 140900 |
Hemangiomas of Small Intestine |
| 141000 |
Hemangioma-Thrombocytopenia Syndrome |
| 234800 |
Hemangiomatosis, Cutaneous, with Associated Features |
| 234810 |
Hemangiomatosis, Familial Pulmonary Capillary |
| 234820 |
Hemangiopericytoma, Malignant |
| 300129 |
Hematopoietic Stem Cell Kinetics, Control of |
| 141200 |
Hematuria, Benign Familial; BFH |
| 614034 |
Heme Oxygenase 1 Deficiency; HMOX1D |
| 141300 |
Hemifacial Atrophy, Progressive; HFA |
| 133900 |
Hemifacial Hyperplasia |
| 141350 |
Hemifacial Hyperplasia with Strabismus |
| 164210 |
Hemifacial Microsomia; HFM (3 mouse models) |
| 141400 |
Hemifacial Microsomia with Radial Defects |
| 606773 |
Hemifacial Myohyperplasia; HMH |
| 141405 |
Hemifacial Spasm, Familial |
| 235000 |
Hemihyperplasia, Isolated; IH |
| 235200 |
Hemochromatosis; HFE (19 mouse models) |
| 231100 |
Hemochromatosis, Neonatal |
| 602390 |
Hemochromatosis, Type 2A; HFE2A (2 mouse models) |
| 613313 |
Hemochromatosis, Type 2B; HFE2B (1 mouse model) |
| 604250 |
Hemochromatosis, Type 3; HFE3 (2 mouse models) |
| 606069 |
Hemochromatosis, Type 4; HFE4 (1 mouse model) |
| 141800 |
Hemoglobin--Alpha Locus 1; HBA1 (11 mouse models) |
| 141900 |
Hemoglobin--Beta Locus; HBB (4 mouse models) |
| 613978 |
Hemoglobin H Disease; HBH |
| 609070 |
Hemoglobin, High Oxygen Saturation of |
| 142309 |
Hemoglobin--Variants for Which the Chain Carrying the Mutation Is Unknown or Uncertain |
| 600461 |
Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities |
| 613470 |
Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency (2 mouse models) |
| 235700 |
Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency (1 mouse model) |
| 235370 |
Hemolytic Anemia with Thermal Sensitivity of Red Cells |
| 141700 |
Hemolytic Poikilocytic Anemia Due to Reduced Ankyrin Binding Sites |
| 235400 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1; AHUS1 (1 mouse model) |
| 612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 2; AHUS2 |
| 612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 3; AHUS3 |
| 612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 4; AHUS4 |
| 612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 5; AHUS5 |
| 612926 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 6; AHUS6 |
| 267700 |
Hemophagocytic Lymphohistiocytosis, Familial, 1; FHL1 |
| 603553 |
Hemophagocytic Lymphohistiocytosis, Familial, 2; FHL2 |
| 608898 |
Hemophagocytic Lymphohistiocytosis, Familial, 3; FHL3 |
| 603552 |
Hemophagocytic Lymphohistiocytosis, Familial, 4; FHL4 |
| 613101 |
Hemophagocytic Lymphohistiocytosis, Familial, 5; FHL5 |
| 306700 |
Hemophilia A; HEMA (3 mouse models) |
| 306800 |
Hemophilia A with Vascular Abnormality |
| 306900 |
Hemophilia B; HEMB (3 mouse models) |
| 306930 |
Hemopoietic Proliferation |
| 614519 |
Hemorrhage, Intracerebral, Susceptibility To; ICH |
| 613730 |
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts |
| 235500 |
Hemosiderosis, Pulmonary, with Deficiency of Gamma-A Globulin |
| 235510 |
Hennekam Lymphangiectasia-Lymphedema Syndrome |
| 612356 |
Heparin Cofactor II Deficiency |
| 142330 |
Hepatic Adenomas, Familial |
| 604201 |
Hepatic Fibrosis, Severe, Susceptibility to, Due to Schistosoma Mansoni Infection |
| 614025 |
Hepatic Lipase Deficiency |
| 235550 |
Hepatic Venoocclusive Disease with Immunodeficiency; VODI |
| 142395 |
Hepatitis B Vaccine, Response to |
| 610424 |
Hepatitis B Virus, Susceptibility to |
| 609532 |
Hepatitis C Virus, Susceptibility to |
| 114550 |
Hepatocellular Carcinoma (35 mouse models) |
| 150800 |
Hereditary Leiomyomatosis and Renal Cell Cancer; HLRCC |
| 604484 |
Hereditary Motor and Sensory Neuropathy, Proximal Type; HMSNP |
| 606071 |
Hereditary Motor and Sensory Neuropathy, Type IIC; HMSN2C |
| 600361 |
Hereditary Motor and Sensory Neuropathy V |
| 601152 |
Hereditary Motor and Sensory Neuropathy VI |
| 603689 |
Hereditary Myopathy with Early Respiratory Failure; HMERF |
| 203300 |
Hermansky-Pudlak Syndrome 1; HPS1 (3 mouse models) |
| 608233 |
Hermansky-Pudlak Syndrome 2; HPS2 (4 mouse models) |
| 614072 |
Hermansky-Pudlak Syndrome 3; HPS3 (3 mouse models) |
| 614073 |
Hermansky-Pudlak Syndrome 4; HPS4 (1 mouse model) |
| 614074 |
Hermansky-Pudlak Syndrome 5; HPS5 (3 mouse models) |
| 614075 |
Hermansky-Pudlak Syndrome 6; HPS6 (2 mouse models) |
| 614076 |
Hermansky-Pudlak Syndrome 7; HPS7 (1 mouse model) |
| 614077 |
Hermansky-Pudlak Syndrome 8; HPS8 (1 mouse model) |
| 614171 |
Hermansky-Pudlak Syndrome 9; HPS9 |
| 306950 |
Hernia, Anterior Diaphragmatic |
| 142350 |
Hernia, Double Inguinal |
| 142400 |
Hernia, Hiatus |
| 610551 |
Herpes Simplex Encephalitis, Susceptibility to, 1 |
| 613002 |
Herpes Simplex Encephalitis, Susceptibility to, 2 |
| 614849 |
Herpes Simplex Encephalitis, Susceptibility to, 3 |
| 614850 |
Herpes Simplex Encephalitis, Susceptibility to, 4 |
| 142500 |
Heterochromia Iridis |
| 306955 |
Heterotaxy, Visceral, 1, X-Linked; HTX1 (6 mouse models) |
| 605376 |
Heterotaxy, Visceral, 2, Autosomal; HTX2 |
| 606325 |
Heterotaxy, Visceral, 3, Autosomal; HTX3 |
| 613751 |
Heterotaxy, Visceral, 4, Autosomal; HTX4 (1 mouse model) |
| 270100 |
Heterotaxy, Visceral, 5, Autosomal; HTX5 (1 mouse model) |
| 614779 |
Heterotaxy, Visceral, 6, Autosomal; HTX6 |
| 608098 |
Heterotopia, Periventricular, Associated with Chromosome 5p Anomalies |
| 612881 |
Heterotopia, Periventricular, Associated with Chromosome 5q Deletion |
| 608097 |
Heterotopia, Periventricular, Autosomal Recessive |
| 300537 |
Heterotopia, Periventricular, Ehlers-Danlos Variant |
| 300049 |
Heterotopia, Periventricular, X-Linked Dominant (1 mouse model) |
| 306960 |
HHHH Syndrome |
| 228960 |
High Molecular Weight Kininogen Deficiency |
| 142669 |
Hip Dysplasia, Beukes Type |
| 613870 |
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction |
| 142623 |
Hirschsprung Disease, Susceptibility to, 1; HSCR1 (4 mouse models) |
| 600155 |
Hirschsprung Disease, Susceptibility to, 2; HSCR2 (2 mouse models) |
| 613711 |
Hirschsprung Disease, Susceptibility to, 3; HSCR3 (3 mouse models) |
| 613712 |
Hirschsprung Disease, Susceptibility to, 4; HSCR4 (2 mouse models) |
| 600156 |
Hirschsprung Disease, Susceptibility to, 5; HSCR5 |
| 606874 |
Hirschsprung Disease, Susceptibility to, 6; HSCR6 |
| 606875 |
Hirschsprung Disease, Susceptibility to, 7; HSCR7 |
| 608462 |
Hirschsprung Disease, Susceptibility to, 8; HSCR8 |
| 611644 |
Hirschsprung Disease, Susceptibility to, 9; HSCR9 |
| 604211 |
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly |
| 235760 |
Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features |
| 235740 |
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness |
| 306980 |
Hirschsprung Disease with Type D Brachydactyly |
| 235750 |
Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect |
| 142625 |
Hirsutism, Skeletal Dysplasia, and Mental Retardation |
| 235800 |
Histidinemia |
| 235830 |
Histidinuria Due to A Renal Tubular Defect |
| 142730 |
Histiocytic Dermatoarthritis |
| 612160 |
Histiocytoma, Angiomatoid Fibrous |
| 235900 |
Histiocytosis, Familial Lipochrome |
| 602782 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
| 142630 |
Histiocytosis, Progressive Mucinous |
| 142770 |
HLA Modifier |
| 300221 |
Hodgkin Disease, X-Linked Pseudoautosomal |
| 400021 |
Hodgkin Disease, Y-Linked Pseudoautosomal |
| 253270 |
Holocarboxylase Synthetase Deficiency |
| 236100 |
Holoprosencephaly (10 mouse models) |
| 614226 |
Holoprosencephaly 11; HPE11 |
| 157170 |
Holoprosencephaly 2; HPE2 (4 mouse models) |
| 142945 |
Holoprosencephaly 3; HPE3 (3 mouse models) |
| 142946 |
Holoprosencephaly 4; HPE4 |
| 609637 |
Holoprosencephaly 5; HPE5 (1 mouse model) |
| 605934 |
Holoprosencephaly 6; HPE6 |
| 610828 |
Holoprosencephaly 7; HPE7 |
| 609408 |
Holoprosencephaly 8; HPE8 |
| 610829 |
Holoprosencephaly 9; HPE9 |
| 300571 |
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate |
| 610680 |
Holoprosencephaly, Recurrent Infections, and Monocytosis |
| 601370 |
Holoprosencephaly, Semilobar, with Craniosynostosis |
| 306990 |
Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence |
| 142900 |
Holt-Oram Syndrome; HOS (4 mouse models) |
| 236110 |
Holzgreve Syndrome |
| 142981 |
Homeobox D4; HOXD4 |
| 236130 |
Homocarnosinosis |
| 603174 |
Homocysteinemia (5 mouse models) |
| 236200 |
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency (2 mouse models) |
| 236250 |
Homocystinuria Due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
| 236270 |
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, cblE Complementation Type |
| 606528 |
Homozygous 11p15-P14 Deletion Syndrome |
| 236300 |
Hooft Disease |
| 143000 |
Horner Syndrome, Congenital |
| 601563 |
Horns in Sheep |
| 300240 |
Hoyeraal-Hreidarsson Syndrome; HHS |
| 143020 |
Hpa I Recognition Polymorphism, Beta-Globin-Related; HPA1 |
| 122460 |
Human Coronavirus Sensitivity; HCVS |
| 614836 |
Human Herpesvirus 8, Susceptibility To; HHV8S |
| 604474 |
Human Herpesvirus Type 6, Integrated |
| 609423 |
Human Immunodeficiency Virus Type 1, Susceptibility to |
| 167959 |
Human Papillomavirus Type 18 Integration Site 1; HPV18I1 |
| 167960 |
Human Papillomavirus Type 18 Integration Site 2; HPV18I2 |
| 236400 |
Humeroradial Synostosis |
| 143050 |
Humeroradial Synostosis |
| 236410 |
Humeroradial Synostosis with Craniofacial Anomalies |
| 611962 |
Hunter-Macdonald Syndrome |
| 601379 |
Hunter-Mcalpine Craniosynostosis Syndrome |
| 143100 |
Huntington Disease; HD (43 mouse models) |
| 603218 |
Huntington Disease-Like 1; HDL1 |
| 606438 |
Huntington Disease-Like 2; HDL2 (2 mouse models) |
| 604802 |
Huntington Disease-Like 3; HDL3 |
| 607015 |
Hurler-Scheie Syndrome (1 mouse model) |
| 607014 |
Hurler Syndrome (5 mouse models) |
| 176670 |
Hutchinson-Gilford Progeria Syndrome; HGPS (9 mouse models) |
| 236450 |
Hutterite Cerebroosteonephrodysplasia Syndrome |
| 228600 |
Hyaline Fibromatosis Syndrome; HFS |
| 604855 |
Hyaluronan Metabolism, Defect in |
| 231090 |
Hydatidiform Mole, Recurrent, 1; HYDM1 |
| 614293 |
Hydatidiform Mole, Recurrent, 2; HYDM2 |
| 236500 |
Hydranencephaly with Renal Aplasia-Dysplasia |
| 603794 |
Hydroa Vacciniforme, Familial |
| 123155 |
Hydrocephalus, Autosomal Dominant; HDCPH1 |
| 236635 |
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius (1 mouse model) |
| 307000 |
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius; HSAS |
| 600559 |
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts |
| 236600 |
Hydrocephalus, Nonsyndromic, Autosomal Recessive; HYC (16 mouse models) |
| 236690 |
Hydrocephalus, Normal-Pressure (1 mouse model) |
| 600991 |
Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia |
| 236660 |
Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis |
| 236640 |
Hydrocephalus with Associated Malformations |
| 307010 |
Hydrocephalus with Cerebellar Agenesis |
| 236680 |
Hydrolethalus Syndrome 1; HLS1 |
| 614120 |
Hydrolethalus Syndrome 2; HLS2 |
| 604916 |
Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation |
| 215140 |
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia |
| 236750 |
Hydrops Fetalis, Nonimmune; NIHF (3 mouse models) |
| 613124 |
Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features |
| 614033 |
Hydroxyacyl Glutathione Hydrolase Deficiency |
| 236800 |
Hydroxykynureninuria |
| 236900 |
Hydroxylysinuria |
| 237000 |
Hydroxyprolinemia |
| 237100 |
Hymen, Imperforate |
| 605635 |
Hyperaldosteronism, Familial, Type II |
| 613677 |
Hyperaldosteronism, Familial, Type III |
| 143470 |
Hyperalphalipoproteinemia 1; HALP1 |
| 614028 |
Hyperalphalipoproteinemia 2; HALP2 |
| 237400 |
Hyper-Beta-Alaninemia |
| 237550 |
Hyperbilirubinemia, Conjugated, Type III |
| 237450 |
Hyperbilirubinemia, Rotor Type; HBLRR |
| 237800 |
Hyperbilirubinemia, Shunt, Primary; PSHB |
| 237900 |
Hyperbilirubinemia, Transient Familial Neonatal; HBLRTFN |
| 614156 |
Hyperbiliverdinemia; HBLVD |
| 143880 |
Hypercalcemia, Infantile |
| 607258 |
Hypercalciuria, Absorptive, 1 |
| 143870 |
Hypercalciuria, Absorptive, 2; HCA2 |
| 115300 |
Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant |
| 277350 |
Hypercarotenemia and Vitamin A Deficiency, Autosomal Recessive |
| 143860 |
Hyperchlorhidrosis, Isolated |
| 607748 |
Hypercholanemia, Familial; FHCA |
| 603776 |
Hypercholesterolemia, Autosomal Dominant, 3; HCHOLA3 |
| 144010 |
Hypercholesterolemia, Autosomal Dominant, Type B |
| 603813 |
Hypercholesterolemia, Autosomal Recessive; ARH (2 mouse models) |
| 143890 |
Hypercholesterolemia, Familial (7 mouse models) |
| 144020 |
Hypercholesterolemia Suppressor |
| 614619 |
Hyperekplexia 2; HKPX2 (1 mouse model) |
| 614618 |
Hyperekplexia 3; HKPX3 (1 mouse model) |
| 149400 |
Hyperekplexia, Hereditary 1; HKPX1 (5 mouse models) |
| 607685 |
Hypereosinophilic Syndrome, Idiopathic; HES |
| 600886 |
Hyperferritinemia with or without Cataract |
| 307030 |
Hyperglycerolemia (1 mouse model) |
| 138500 |
Hyperglycinuria |
| 241090 |
Hypergonadotropic Hypogonadism and Partial Alopecia |
| 144050 |
Hyperheparinemia |
| 144100 |
Hyperhidrosis, Gustatory; HYPRG |
| 144110 |
Hyperhidrosis Palmaris Et Plantaris; HYPRPP |
| 260920 |
Hyper-IgD Syndrome; HIDS |
| 147060 |
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant (1 mouse model) |
| 243700 |
Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive |
| 144120 |
Hyperimmunoglobulin G1(a1) Syndrome |
| 256450 |
Hyperinsulinemic Hypoglycemia, Familial, 1; HHF1 |
| 601820 |
Hyperinsulinemic Hypoglycemia, Familial, 2; HHF2 (1 mouse model) |
| 602485 |
Hyperinsulinemic Hypoglycemia, Familial, 3; HHF3 |
| 609975 |
Hyperinsulinemic Hypoglycemia, Familial, 4; HHF4 |
| 609968 |
Hyperinsulinemic Hypoglycemia, Familial, 5; HHF5 |
| 606762 |
Hyperinsulinemic Hypoglycemia, Familial, 6; HHF6 |
| 610021 |
Hyperinsulinemic Hypoglycemia, Familial, 7; HHF7 |
| 170500 |
Hyperkalemic Periodic Paralysis; HYPP (4 mouse models) |
| 144190 |
Hyperkeratosis-Hyperpigmentation Syndrome |
| 144150 |
Hyperkeratosis Lenticularis Perstans; HLP |
| 238340 |
Hyperleucine-Isoleucinemia |
| 238350 |
Hyperlexia |
| 602491 |
Hyperlipidemia, Combined, 1 |
| 604499 |
Hyperlipidemia, Combined, 2 |
| 144250 |
Hyperlipidemia, Familial Combined; FCHL (2 mouse models) |
| 238600 |
Hyperlipoproteinemia, Type I (4 mouse models) |
| 144300 |
Hyperlipoproteinemia, Type II, and Deafness |
| 144600 |
Hyperlipoproteinemia, Type IV |
| 144650 |
Hyperlipoproteinemia, Type V |
| 238700 |
Hyperlysinemia |
| 238710 |
Hyperlysinemia Due to Defect in Lysine Transport Into Mitochondria |
| 238750 |
Hyperlysinuria with Hyperammonemia |
| 613280 |
Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis; HMDPC |
| 238800 |
Hypermetabolism Due to Defect in Mitochondria |
| 614300 |
Hypermethioninemia Due to Adenosine Kinase Deficiency |
| 613752 |
Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency |
| 238950 |
Hyperopia, High |
| 238970 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
| 239100 |
Hyperostosis Corticalis Generalisata (4 mouse models) |
| 144750 |
Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus |
| 144755 |
Hyperostosis Cranialis Interna |
| 144800 |
Hyperostosis Frontalis Interna |
| 259900 |
Hyperoxaluria, Primary, Type I; HP1 (1 mouse model) |
| 260000 |
Hyperoxaluria, Primary, Type II; HP2 (1 mouse model) |
| 613616 |
Hyperoxaluria, Primary, Type III; HP3 |
| 145000 |
Hyperparathyroidism 1; HRPT1 (7 mouse models) |
| 145001 |
Hyperparathyroidism 2; HRPT2 |
| 610071 |
Hyperparathyroidism 3; HRPT3 |
| 239199 |
Hyperparathyroidism, Neonatal Self-Limited Primary, with Hypercalciuria |
| 239200 |
Hyperparathyroidism, Neonatal Severe Primary; NSHPT (1 mouse model) |
| 600166 |
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia |
| 261640 |
Hyperphenylalaninemia, Bh4-Deficient, A; HPABH4A (2 mouse models) |
| 233910 |
Hyperphenylalaninemia, Bh4-Deficient, B; HPABH4B |
| 261630 |
Hyperphenylalaninemia, Bh4-Deficient, C; HPABH4C |
| 264070 |
Hyperphenylalaninemia, Bh4-Deficient, D; HPABH4D |
| 239300 |
Hyperphosphatasia with Mental Retardation Syndrome 1; HPMRS1 |
| 614749 |
Hyperphosphatasia with Mental Retardation Syndrome 2; HPMRS2 |
| 239350 |
Hyperphosphatemia, Polyuria, and Seizures |
| 614233 |
Hyperpigmentation, Familial Progressive, 1; FPH1 |
| 145250 |
Hyperpigmentation, Familial Progressive, 2; FPH2 |
| 145100 |
Hyperpigmentation of Eyelids |
| 145200 |
Hyperpigmentation of Fuldauer and Kuijpers |
| 145270 |
Hyperproglucagonemia |
| 239500 |
Hyperprolinemia, Type I; HPI (1 mouse model) |
| 239510 |
Hyperprolinemia, Type II; HPII |
| 145290 |
Hyperreflexia; HRX |
| 606984 |
Hyperreninemic Hypoaldosteronism, Familial, 2 |
| 145295 |
Hypersecretion of Adrenal Androgens, Familial |
| 145300 |
Hypersensitivity Pneumonitis, Familial |
| 145350 |
Hypertaurinuric Cardiomyopathy |
| 145400 |
Hypertelorism |
| 614684 |
Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes |
| 239711 |
Hypertelorism and Tetralogy of Fallot |
| 239800 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
| 614187 |
Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness; HPPD |
| 145420 |
Hypertelorism, Teebi Type |
| 608622 |
Hypertension, Diastolic, Resistance to |
| 605115 |
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy |
| 145500 |
Hypertension, Essential (4 mouse models) |
| 603918 |
Hypertension, Essential, Susceptibility to, 1 |
| 604329 |
Hypertension, Essential, Susceptibility to, 2 |
| 607329 |
Hypertension, Essential, Susceptibility to, 3 |
| 608742 |
Hypertension, Essential, Susceptibility to, 4 |
| 610261 |
Hypertension, Essential, Susceptibility to, 5 |
| 610262 |
Hypertension, Essential, Susceptibility to, 6 |
| 610948 |
Hypertension, Essential, Susceptibility to, 7 |
| 611014 |
Hypertension, Essential, Susceptibility to, 8; HYT8 |
| 112410 |
Hypertension with Brachydactyly |
| 608026 |
Hypertensive Nephropathy; HNP1 |
| 145590 |
Hyperthermia, Cutaneous, with Headaches and Nausea |
| 603373 |
Hyperthyroidism, Familial Gestational |
| 609152 |
Hyperthyroidism, Nonautoimmune |
| 600457 |
Hypertrichosis, Anterior Cervical |
| 239840 |
Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy |
| 307150 |
Hypertrichosis, Congenital Generalized; HTC2 |
| 609943 |
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features |
| 135400 |
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia |
| 145700 |
Hypertrichosis Universalis |
| 145701 |
Hypertrichosis Universalis Congenita, Ambras Type; HTC1 (2 mouse models) |
| 145750 |
Hypertriglyceridemia, Familial |
| 614480 |
Hypertriglyceridemia, Transient Infantile; HTGTI |
| 145800 |
Hypertrophia Musculorum Vera |
| 239900 |
Hypertrophic Neuropathy and Cataract |
| 145900 |
Hypertrophic Neuropathy of Dejerine-Sottas (1 mouse model) |
| 167100 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant; PHOAD |
| 259100 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1; PHOAR1 |
| 614441 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2; PHOAR2 |
| 113670 |
Hypertrophy of the Breast, Juvenile; JHB |
| 600627 |
Hypertryptophanemia, Familial |
| 240000 |
Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase |
| 613845 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis |
| 162000 |
Hyperuricemic Nephropathy, Familial Juvenile, 1; HNFJ1 (2 mouse models) |
| 613092 |
Hyperuricemic Nephropathy, Familial Juvenile, 2; HNFJ2 |
| 614227 |
Hyperuricemic Nephropathy, Familial Juvenile, 3; HNFJ3 |
| 240150 |
Hypervitaminosis A, Susceptibility to |
| 601979 |
Hyperzincemia with Functional Zinc Depletion |
| 240200 |
Hypoadrenocorticism, Familial |
| 604091 |
Hypoalphalipoproteinemia, Primary |
| 240400 |
Hypoascorbemia |
| 605019 |
Hypobetalipoproteinemia, Familial, 2; FHBL2 (2 mouse models) |
| 145980 |
Hypocalciuric Hypercalcemia, Familial, Type I; HHC1 (7 mouse models) |
| 145981 |
Hypocalciuric Hypercalcemia, Familial, Type II; HHC2 |
| 600740 |
Hypocalciuric Hypercalcemia, Familial, Type III; HHC3 |
| 146000 |
Hypochondroplasia; HCH |
| 103300 |
Hypoglossia-Hypodactylia |
| 612776 |
Hypoglossia with Situs Inversus |
| 240800 |
Hypoglycemia, Leucine-Induced; LIH |
| 240950 |
Hypogonadism-Cataract Syndrome |
| 241100 |
Hypogonadism, Male |
| 307300 |
Hypogonadism, Male |
| 307500 |
Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies |
| 241000 |
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly |
| 614839 |
Hypogonadotropic Hypogonadism 10 with or without Anosmia; HH10 |
| 614840 |
Hypogonadotropic Hypogonadism 11 with or without Anosmia; HH11 |
| 614841 |
Hypogonadotropic Hypogonadism 12 with or without Anosmia; HH12 |
| 614842 |
Hypogonadotropic Hypogonadism 13 with or without Anosmia; HH13 (2 mouse models) |
| 614858 |
Hypogonadotropic Hypogonadism 14 with or without Anosmia; HH14 |
| 614880 |
Hypogonadotropic Hypogonadism 15 with or without Anosmia; HH15 |
| 614897 |
Hypogonadotropic Hypogonadism 16 with or without Anosmia; HH16 |
| 308700 |
Hypogonadotropic Hypogonadism 1 with or without Anosmia; HH1 |
| 147950 |
Hypogonadotropic Hypogonadism 2 with or without Anosmia; HH2 |
| 244200 |
Hypogonadotropic Hypogonadism 3 with or without Anosmia; HH3 |
| 610628 |
Hypogonadotropic Hypogonadism 4 with or without Anosmia; HH4 |
| 612370 |
Hypogonadotropic Hypogonadism 5 with or without Anosmia; HH5 |
| 612702 |
Hypogonadotropic Hypogonadism 6 with or without Anosmia; HH6 |
| 146110 |
Hypogonadotropic Hypogonadism 7 with or without Anosmia; HH7 (1 mouse model) |
| 614837 |
Hypogonadotropic Hypogonadism 8 with or without Anosmia; HH8 (3 mouse models) |
| 614838 |
Hypogonadotropic Hypogonadism 9 with or without Anosmia; HH9 |
| 241120 |
Hypohidrosis with Abnormal Palmar Dermal Ridges |
| 240900 |
Hypoinsulinemic Hypoglycemia with Hemihypertrophy; HIHGHH |
| 241150 |
Hypokalemia, Familial |
| 170400 |
Hypokalemic Periodic Paralysis, Type 1; HOKPP1 |
| 613345 |
Hypokalemic Periodic Paralysis, Type 2; HOKPP2 (1 mouse model) |
| 602014 |
Hypomagnesemia 1, Intestinal; HOMG1 |
| 154020 |
Hypomagnesemia 2, Renal; HOMG2 |
| 248250 |
Hypomagnesemia 3, Renal; HOMG3 (1 mouse model) |
| 611718 |
Hypomagnesemia 4, Renal; HOMG4 |
| 248190 |
Hypomagnesemia 5, Renal, with Ocular Involvement; HOMG5 |
| 613882 |
Hypomagnesemia 6, Renal; HOMG6 |
| 500005 |
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial |
| 241310 |
Hypomandibular Faciocranial Dysostosis |
| 300337 |
Hypomelanosis of Ito; HMI |
| 146160 |
Hypomelia with Mullerian Duct Anomalies |
| 612949 |
Hypomyelination, Global Cerebral |
| 146200 |
Hypoparathyroidism, Familial Isolated; FIH (1 mouse model) |
| 241410 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome; HRD |
| 146255 |
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease; HDR (2 mouse models) |
| 307700 |
Hypoparathyroidism, X-Linked; HYPX |
| 146300 |
Hypophosphatasia, Adult (8 mouse models) |
| 241510 |
Hypophosphatasia, Childhood (1 mouse model) |
| 241500 |
Hypophosphatasia, Infantile (2 mouse models) |
| 241519 |
Hypophosphatemia, Renal, with Intracerebral Calcifications |
| 146350 |
Hypophosphatemic Bone Disease; HBD |
| 612089 |
Hypophosphatemic Rickets and Hyperparathyroidism |
| 193100 |
Hypophosphatemic Rickets, Autosomal Dominant; ADHR (3 mouse models) |
| 241520 |
Hypophosphatemic Rickets, Autosomal Recessive, 1; ARHR1 |
| 613312 |
Hypophosphatemic Rickets, Autosomal Recessive, 2; ARHR2 (1 mouse model) |
| 241530 |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary; HHRH (2 mouse models) |
| 307800 |
Hypophosphatemic Rickets, X-Linked Dominant; XLHR (18 mouse models) |
| 300554 |
Hypophosphatemic Rickets, X-Linked Recessive |
| 241540 |
Hypopituitarism, Congenital, with Central Diabetes Insipidus |
| 146400 |
Hypoplasia of Teeth Roots |
| 241550 |
Hypoplastic Left Heart Syndrome 1; HLHS1 |
| 614435 |
Hypoplastic Left Heart Syndrome 2; HLHS2 |
| 607236 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration |
| 241600 |
Hypoproteinemia, Hypercatabolic |
| 300633 |
Hypospadias 1, X-Linked; HYSP1 |
| 300758 |
Hypospadias 2, X-Linked; HYSP2 |
| 146450 |
Hypospadias 3, Autosomal; HYSP3 |
| 300856 |
Hypospadias 4, X-Linked, Susceptibility To; HYSP4 |
| 603463 |
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss |
| 241760 |
Hypospadias-Mental Retardation Syndrome |
| 241800 |
Hypothalamic Hamartomas |
| 241850 |
Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate (1 mouse model) |
| 300888 |
Hypothyroidism, Central, and Testicular Enlargement; CHTE |
| 275200 |
Hypothyroidism, Congenital, Nongoitrous, 1; CHNG1 |
| 218700 |
Hypothyroidism, Congenital, Nongoitrous, 2; CHNG2 (3 mouse models) |
| 609893 |
Hypothyroidism, Congenital, Nongoitrous, 3; CHNG3 |
| 275100 |
Hypothyroidism, Congenital, Nongoitrous, 4; CHNG4 |
| 225250 |
Hypothyroidism, Congenital, Nongoitrous, 5; CHNG5 |
| 614450 |
Hypothyroidism, Congenital, Nongoitrous, 6; CHNG6 |
| 300184 |
Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses |
| 606407 |
Hypotonia-Cystinuria Syndrome |
| 612777 |
Hypotonia, Seizures, and Precocious Puberty |
| 614238 |
Hypotrichosis 10; HYPT10 |
| 615059 |
Hypotrichosis 11; HYPT11 |
| 605389 |
Hypotrichosis 1; HYPT1 |
| 146520 |
Hypotrichosis 2; HYPT2 |
| 613981 |
Hypotrichosis 3; HYPT3 |
| 146550 |
Hypotrichosis 4; HYPT4 (1 mouse model) |
| 612841 |
Hypotrichosis 5; HYPT5 |
| 607903 |
Hypotrichosis 6; HYPT6 (1 mouse model) |
| 604379 |
Hypotrichosis 7; HYPT7 |
| 278150 |
Hypotrichosis 8; HYPT8 |
| 614237 |
Hypotrichosis 9; HYPT9 |
| 613102 |
Hypotrichosis and Recurrent Skin Vesicles |
| 601553 |
Hypotrichosis, Congenital, with Juvenile Macular Dystrophy; HJMD |
| 607823 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome; HLTS (1 mouse model) |
| 607658 |
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome |
| 609250 |
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate |
| 307830 |
Hypouricemia, Familial Renal, Due to Tubular Hypersecretion |
| 242050 |
Hypouricemia, Hypercalcinuria, and Decreased Bone Density |
| 220150 |
Hypouricemia, Renal, 1; RHUC1 |
| 612076 |
Hypouricemia, Renal, 2; RHUC2 |
| 146580 |
Hypoxanthine Guanine Phosphoribosyltransferase Suppressor |