| Disease Name |
Symbol |
Acronym |
| H. Pylori Infection |
HPY002 |
|
| Hadh-Related Hyperinsulinism |
HDH001 |
|
| Haemonchiasis |
HMN005 |
|
| Haemophilus Influenzae |
HMP009 |
|
| Haemophilus Meningitis |
HMP030 |
|
| Hailey-Hailey Disease |
HLY001 |
HHD |
| Haim-Munk Syndrome |
HMM002 |
HMS |
| Hair Disease |
HRD018 |
|
| Hair Follicle Neoplasm |
HRF001 |
|
| Hairy Cell Leukemia |
HRY003 |
HCL |
| Hairy Ears, Y-Linked |
HRY009 |
|
| Hairy Elbows |
HRY005 |
|
| Hairy Tongue |
HRY002 |
|
| Hajdu-Cheney Syndrome |
HJD001 |
HJCYS |
| Hallermann-Streiff Syndrome |
HLL001 |
HSS |
| Hallucinogen Abuse |
HLL002 |
|
| Hallucinogen Dependence |
HLL005 |
|
| Halo Nevi |
HLN001 |
|
| Hamamy Syndrome |
HMM004 |
HMMS |
| Hamp-Related Juvenile Hemochromatosis |
HMP019 |
|
| Hand Dermatosis |
HND001 |
|
| Hand-Foot-Uterus Syndrome |
HND003 |
HFG |
| Hand, Foot and Mouth Disease |
HND002 |
|
| Handigodu Joint Disease |
HND012 |
|
| Hanhart Syndrome |
HNH001 |
|
| Hansen's Disease |
HNS001 |
|
| Hantavirus Pulmonary Syndrome |
HNT002 |
HPS |
| Hard Palate Cancer |
HRD005 |
|
| Harp Syndrome |
HRP007 |
HARP |
| Hartnup Disorder |
HRT031 |
HND |
| Hartsfield Syndrome |
HRT030 |
HRTFDS |
| Hashimoto Thyroiditis |
HSH003 |
|
| Hashimoto-Pritzker Syndrome |
HSH001 |
|
| Hawkinsinuria |
HWK001 |
HAWK |
| Hay-Wells Syndrome |
HYW001 |
AEC |
| Hdac8-Related Cornelia De Lange Syndrome |
HDC004 |
|
| Head Injury |
HDN002 |
|
| Headache |
HDC001 |
|
| Hearing Loss, Cisplatin-Induced |
HRN018 |
|
| Hearing Loss/deafness |
HRN022 |
|
| Heart Aneurysm |
HRT006 |
|
| Heart Block, Congenital |
HRT035 |
|
| Heart Block, Progressive, Type Ia |
HRT021 |
PFHB1A |
| Heart Cancer |
HRT007 |
|
| Heart Conduction Disease |
HRT008 |
|
| Heart Disease |
HRT032 |
|
| Heart Fibrosarcoma |
HRT002 |
|
| Heart Lymphoma |
HRT003 |
|
| Heart Sarcoma |
HRT010 |
|
| Heart Septal Defect |
HRT011 |
|
| Heart Tumor |
HRT017 |
|
| Heart Valve Disease |
HRT012 |
|
| Heart-Hand Syndrome, Slovenian Type |
HRT018 |
HHS-SLOVENIAN |
| Heavy Chain Deposition Disease |
HVY003 |
HCDD |
| Heavy Chain Disease |
HVY001 |
HCD |
| Heel Spur |
HLS001 |
|
| Heimler Syndrome 1 |
HML047 |
HMLR1 |
| Heimler Syndrome 2 |
HML046 |
HMLR2 |
| Heinz Body Anemia |
HNZ001 |
HEIBAN |
| Hellp Syndrome |
HLL004 |
|
| Helsmoortel-Van Der Aa Syndrome |
HLS003 |
HVDAS |
| Hemangioblastoma |
HMN009 |
|
| Hemangioendothelioma |
HMN016 |
|
| Hemangioma |
HMN010 |
|
| Hemangioma of Intra-Abdominal Structure |
HMN011 |
|
| Hemangioma of Liver |
HMN004 |
|
| Hemangioma of Lung |
HMN012 |
|
| Hemangioma of Spleen |
HMN003 |
|
| Hemangioma-Thrombocytopenia Syndrome |
HMN035 |
KMP |
| Hemangioma, Capillary Infantile |
HMN027 |
HCI |
| Hemangioma, Capillary Infantile Susceptibility |
HMN037 |
HCI |
| Hemangioma, Hereditary |
HMN024 |
|
| Hemangiopericytoma, Malignant |
HMN036 |
|
| Hemarthrosis |
HMR002 |
|
| Hematocele of Tunica Vaginalis Testis |
HMT001 |
|
| Hematologic Cancer |
HMT002 |
|
| Hematopoietic Stem Cell Transplantation |
HMT018 |
|
| Hematuria, Benign Familial |
HMT008 |
BFH |
| Heme Oxygenase-1 Deficiency |
HMX002 |
HMOX1D |
| Hemidystonia |
HMD003 |
|
| Hemifacial Atrophy, Progressive |
HMF008 |
PHA |
| Hemifacial Microsomia |
HMF006 |
OAVS |
| Hemifacial Spasm |
HMF004 |
|
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
HMH003 |
HHML |
| Hemihyperplasia, Isolated |
HMH004 |
|
| Hemihypertrophy |
HMH002 |
|
| Hemimegalencephaly |
HMM003 |
|
| Hemiparkinsonism-Hemiatrophy Syndrome |
HMP027 |
|
| Hemiplegia |
HMP005 |
|
| Hemiplegic Migraine |
HMP006 |
|
| Hemochromatosis |
HMC003 |
HFE1 |
| Hemochromatosis Type 2 |
HMC009 |
JHH |
| Hemochromatosis, Neonatal |
HMC038 |
NH |
| Hemochromatosis, Type 2a |
HMC021 |
HFE2A |
| Hemochromatosis, Type 2b |
HMC019 |
HFE2B |
| Hemochromatosis, Type 3 |
HMC010 |
HFE3 |
| Hemochromatosis, Type 4 |
HMC035 |
HFE4 |
| Hemochromatosis, Type 5 |
HMC034 |
HFE5 |
| Hemoglobin C Disease |
HMG001 |
|
| Hemoglobin C-Beta-Thalassemia Syndrome |
HMG027 |
|
| Hemoglobin Constant Spring |
HMG012 |
|
| Hemoglobin D Disease |
HMG004 |
|
| Hemoglobin E Disease |
HMG003 |
|
| Hemoglobin E-Beta-Thalassemia Syndrome |
HMG026 |
|
| Hemoglobin H Disease, Nondeletional |
HMG025 |
HBH |
| Hemoglobin Lepore-Beta-Thalassemia Syndrome |
HMG028 |
|
| Hemoglobin Pakse |
HMG013 |
|
| Hemoglobin Quong Sze |
HMG014 |
|
| Hemoglobin S Beta-Thalassemia |
HMG015 |
|
| Hemoglobin Sd |
HMG016 |
|
| Hemoglobin Se Disease |
HMG029 |
|
| Hemoglobin So |
HMG017 |
|
| Hemoglobinemia |
HMG010 |
|
| Hemoglobinopathy |
HMG005 |
|
| Hemoglobinopathy Toms River |
HMG024 |
|
| Hemoglobinuria |
HMG002 |
|
| Hemolytic Anemia |
HML002 |
|
| Hemolytic Anemia Due to Adenylate Kinase Deficiency |
HML003 |
HAAKD |
| Hemolytic Anemia Due to Band 3 Montefiore |
HML019 |
|
| Hemolytic Anemia Due to G6pd Deficiency |
HML006 |
NSHA |
| Hemolytic Anemia Due to Gamma-Glutamylcysteine Synthetase Deficiency |
HML007 |
HAGGSD |
| Hemolytic Anemia Due to Glutathione Peroxidase Deficiency |
HML009 |
|
| Hemolytic Anemia Due to Glutathione Reductase Deficiency |
HML010 |
|
| Hemolytic Anemia Due to Glutathione Synthetase Deficiency |
HML011 |
GLUSYNDE |
| Hemolytic Anemia Due to Hexokinase Deficiency |
HML012 |
HK DEFICIENCY |
| Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency |
HML015 |
TPID |
| Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy |
HML042 |
HACD59 |
| Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency |
HML021 |
HA-GPID |
| Hemolytic Uremic Syndrome, Atypical 1 |
HML033 |
AHUS1 |
| Hemolytic Uremic Syndrome, Atypical 2 |
HML035 |
AHUS2 |
| Hemolytic Uremic Syndrome, Atypical 3 |
HML034 |
AHUS3 |
| Hemolytic Uremic Syndrome, Atypical 4 |
HML032 |
AHUS4 |
| Hemolytic Uremic Syndrome, Atypical 5 |
HML037 |
AHUS5 |
| Hemolytic Uremic Syndrome, Atypical 6 |
HML036 |
AHUS6 |
| Hemolytic-Uremic Syndrome |
HML001 |
HUS |
| Hemometra |
HMM001 |
|
| Hemopericardium |
HMP001 |
|
| Hemophagocytic Lymphohistiocytosis |
HMP002 |
FEL |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
HMP022 |
FHL1 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
HMP012 |
FHL2 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
HMP013 |
FHL3 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
HMP014 |
FHL4 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5 |
HMP023 |
FHL5 |
| Hemophilia |
HMP007 |
|
| Hemophilia a |
HMP029 |
HEMA |
| Hemophilia B |
HMP004 |
HEMB |
| Hemophilic Arthropathy |
HMP018 |
|
| Hemopneumothorax |
HMP003 |
|
| Hemorrhage, Intracerebral |
HMR039 |
ICH |
| Hemorrhagic Cystitis |
HMR023 |
|
| Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts |
HMR018 |
HDBSCC |
| Hemorrhagic Disease |
HMR003 |
|
| Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation |
HMR041 |
|
| Hemorrhagic Fever |
HMR012 |
|
| Hemorrhagic Fever with Renal Syndrome |
HMR004 |
HFRS |
| Hemorrhoid |
HMR005 |
|
| Hemosiderosis |
HMS001 |
|
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
HNN005 |
HKLLS1 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
HNN004 |
HKLLS2 |
| Hennekam Syndrome |
HNN001 |
|
| Henoch-Schoenlein Purpura |
HNC001 |
|
| Hepacam-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts |
HPC001 |
|
| Hepadnavirus Infection |
HPD002 |
|
| Heparin-Induced Thrombocytopenia |
HPR003 |
HAT |
| Hepatic Adenoma, Somatic |
HPT074 |
HEPAF |
| Hepatic Angiomyolipoma |
HPT006 |
|
| Hepatic Coma |
HPT004 |
|
| Hepatic Encephalopathy |
HPT019 |
|
| Hepatic Failure, Early-Onset, and Neurologic Disorder Due to Cytochrome C Oxidase Deficiency |
HPT062 |
|
| Hepatic Infarction |
HPT081 |
|
| Hepatic Lipase Deficiency |
HPT025 |
HL DEFICIENCY |
| Hepatic Tuberculosis |
HPT008 |
|
| Hepatic Vascular Disease |
HPT020 |
|
| Hepatic Veno-Occlusive Disease |
HPT046 |
|
| Hepatic Venoocclusive Disease with Immunodeficiency |
HPT077 |
VODI |
| Hepatitis |
HPT021 |
|
| Hepatitis a |
HPT003 |
|
| Hepatitis B |
HPT016 |
HBV |
| Hepatitis C |
HPT001 |
NANBH |
| Hepatitis C Virus |
HPT073 |
|
| Hepatitis D |
HPT015 |
HDV |
| Hepatitis E |
HPT007 |
|
| Hepatoblastoma |
HPT022 |
HBL |
| Hepatocellular Adenoma |
HPT067 |
|
| Hepatocellular Carcinoma |
HPT023 |
HCC |
| Hepatoid Adenocarcinoma |
HPT079 |
|
| Hepatoportal Sclerosis |
HPT066 |
|
| Hepatopulmonary Syndrome |
HPT009 |
|
| Hepatorenal Syndrome |
HPT014 |
|
| Hepatosplenic T-Cell Lymphoma |
HPT070 |
|
| Her2-Receptor Negative Breast Cancer |
HR2002 |
|
| Her2-Receptor Positive Breast Cancer |
HR2001 |
|
| Hereditary Acrokeratotic Poikiloderma, Weary Type |
HRD113 |
|
| Hereditary Amyloidosis |
HRD039 |
|
| Hereditary Angioedema |
HRD002 |
HAE |
| Hereditary Antithrombin Deficiency |
HRD083 |
|
| Hereditary Ataxia |
HRD026 |
SCA |
| Hereditary Breast Ovarian Cancer |
HRD004 |
|
| Hereditary Central Diabetes Insipidus |
HRD156 |
|
| Hereditary Cerebral Amyloid Angiopathy |
HRD084 |
CAA |
| Hereditary Choroidal Atrophy |
HRD019 |
|
| Hereditary Colorectal Cancer |
HRD169 |
|
| Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors |
HRD160 |
|
| Hereditary Congenital Facial Paresis |
HRD043 |
HCFP1 |
| Hereditary Conventional Renal Cell Carcinoma |
HRD003 |
|
| Hereditary Elliptocytosis |
HRD012 |
|
| Hereditary Essential Tremor 5 |
HRD184 |
ETM5 |
| Hereditary Geniospasm |
HRD194 |
GSM 1 |
| Hereditary Hemorrhagic Telangiectasia |
HRD008 |
HHT |
| Hereditary Hypercarotenemia and Vitamin a Deficiency |
HRD143 |
|
| Hereditary Hyperuricemia |
HRD048 |
|
| Hereditary Hypophosphatemic Rickets |
HRD086 |
VDRR |
| Hereditary Late-Onset Parkinson Disease |
HRD173 |
LOPD |
| Hereditary Lymphedema |
HRD007 |
|
| Hereditary Methemoglobinemia |
HRD146 |
|
| Hereditary Mixed Polyposis Syndrome |
HRD144 |
HMPS |
| Hereditary Mixed Polyposis Syndrome 1 |
HRD101 |
HMPS1 |
| Hereditary Motor and Sensory Neuropathy V |
HRD138 |
|
| Hereditary Motor and Sensory Neuropathy Via |
HRD161 |
HMSN6A |
| Hereditary Motor and Sensory Neuropathy, Okinawa Type |
HRD162 |
HMSNO |
| Hereditary Motor and Sensory Neuropathy, Type Iic |
HRD094 |
CMT2C |
| Hereditary Multiple Exostoses |
HRD001 |
|
| Hereditary Multiple Osteochondromas |
HRD104 |
HME |
| Hereditary Multiple Osteochondromatosis, Type I |
HRD071 |
|
| Hereditary Multiple Osteochondromatosis, Type Ii |
HRD072 |
|
| Hereditary Nephrotic Syndromes |
HRD074 |
|
| Hereditary Neuroendocrine Tumor of Small Intestine |
HRD181 |
|
| Hereditary Neuropathies |
HRD088 |
|
| Hereditary Neuropathy with Liability to Pressure Palsy |
HRD054 |
HNPP |
| Hereditary Night Blindness |
HRD015 |
|
| Hereditary Paraganglioma-Pheochromocytoma Syndromes |
HRD031 |
FPGL |
| Hereditary Pediatric Behçet-Like Disease |
HRD197 |
|
| Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
HRD183 |
|
| Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
HRD180 |
|
| Hereditary Persistence of Fetal Hemoglobin, Klf1-Related |
HRD170 |
|
| Hereditary Proximal Myopathy with Early Respiratory Failure |
HRD141 |
HMERF |
| Hereditary Pulmonary Alveolar Proteinosis |
HRD171 |
|
| Hereditary Renal Cell Carcinoma |
HRD020 |
|
| Hereditary Retinal Dystrophy |
HRD016 |
|
| Hereditary Sensory and Autonomic Neuropathy Type 1e |
HRD195 |
HSNIE |
| Hereditary Sensory and Autonomic Neuropathy Type Iic |
HRD081 |
|
| Hereditary Sensory Neuropathy |
HRD021 |
HSAN |
| Hereditary Site-Specific Ovarian Cancer Syndrome |
HRD114 |
|
| Hereditary Spastic Paraplegia |
HRD010 |
FSP |
| Hereditary Spastic Paraplegia 3a |
HRD185 |
FSP1 |
| Hereditary Spastic Paraplegia 51 |
HRD186 |
CPSQ4 |
| Hereditary Spastic Paraplegia 62 |
HRD187 |
SPG62 |
| Hereditary Spastic Paraplegia 75 |
HRD189 |
SPG75 |
| Hereditary Spastic Paraplegia 76 |
HRD190 |
SPG76 |
| Hereditary Spastic Paraplegia 77 |
HRD191 |
SPG77 |
| Hereditary Spherocytosis |
HRD011 |
HS |
| Hereditary Spherocytosis Type 2 |
HRD192 |
HS2 |
| Hereditary Thrombocytosis with Transverse Limb Defect |
HRD118 |
|
| Hereditary Thrombophilia Due to Congenital Protein S Deficiency |
HRD147 |
|
| Hereditary Wilms' Tumor |
HRD009 |
WT1 |
| Hereditary Xanthinuria |
HRD142 |
|
| Heritable Pulmonary Arterial Hypertension |
HRT015 |
FPAH |
| Hermansky-Pudlak Syndrome |
HRM001 |
HPS |
| Hermansky-Pudlak Syndrome 1 |
HRM005 |
HPS1 |
| Hermansky-Pudlak Syndrome 2 |
HRM017 |
HPS2 |
| Hermansky-Pudlak Syndrome 3 |
HRM006 |
HPS3 |
| Hermansky-Pudlak Syndrome 4 |
HRM007 |
HPS4 |
| Hermansky-Pudlak Syndrome 5 |
HRM008 |
HPS5 |
| Hermansky-Pudlak Syndrome 6 |
HRM009 |
HPS6 |
| Hermansky-Pudlak Syndrome 7 |
HRM010 |
HPS7 |
| Hermansky-Pudlak Syndrome 8 |
HRM011 |
HPS8 |
| Hermansky-Pudlak Syndrome 9 |
HRM012 |
HPS9 |
| Hermansky-Pudlak Syndrome with Pulmonary Fibrosis |
HRM018 |
|
| Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis |
HRM016 |
|
| Hermaphroditism |
HRM002 |
|
| Heroin Dependence |
HRN003 |
|
| Herpangina |
HRP001 |
|
| Herpes Gestationis |
HRP002 |
|
| Herpes Simplex |
HRP006 |
|
| Herpes Simplex Encephalitic 6 |
HRP029 |
HSE4 |
| Herpes Simplex Encephalitis |
HRP009 |
|
| Herpes Simplex Encephalitis 1 |
HRP023 |
HSE1 |
| Herpes Simplex Encephalitis 2 |
HRP024 |
HSE2 |
| Herpes Simplex Encephalitis 3 |
HRP028 |
HSE3 |
| Herpes Simplex Encephalitis 7 |
HRP030 |
HSE7 |
| Herpes Simplex Virus Keratitis |
HRP025 |
|
| Herpes Zoster |
HRP004 |
|
| Herpetic Whitlow |
HRP005 |
|
| Herpetiform Pemphigus |
HRP026 |
|
| Hes7-Related Spondylocostal Dysostosis, Autosomal Recessive |
HS7001 |
SCDO4 |
| Hesx1-Related Combined Pituitary Hormone Deficiency |
HSX001 |
CPHD5 |
| Heterochromia Iridis |
HTR005 |
|
| Heterophyiasis |
HTR001 |
|
| Heterotaxy |
HTR003 |
HTX |
| Heterotaxy, Visceral, 1, X-Linked |
HTR014 |
HTX1 |
| Heterotaxy, Visceral, 2, Autosomal |
HTR009 |
HTX2 |
| Heterotaxy, Visceral, 3, Autosomal |
HTR012 |
|
| Heterotaxy, Visceral, 4, Autosomal |
HTR010 |
HTX4 |
| Heterotaxy, Visceral, 5 |
HTR008 |
HTX5 |
| Heterotaxy, Visceral, 6, Autosomal Recessive |
HTR013 |
HTX6 |
| Heterotaxy, Visceral, 7, Autosomal |
HTR018 |
HTX7 |
| Heterotaxy, Visceral, 8, Autosomal |
HTR020 |
HTX8 |
| Heterotopia, Periventricular |
HTR015 |
PVNH1 |
| Heterotopia, Periventricular, Ed Variant |
HTR007 |
PVNH4 |
| Hfe-Associated Hereditary Hemochromatosis |
HFS001 |
|
| Hiatus Hernia |
HTS001 |
|
| Hidradenitis |
HDR003 |
|
| Hidradenitis Suppurativa |
HDR002 |
|
| Hidradenocarcinoma |
HDR006 |
|
| Hidradenoma |
HDR004 |
|
| Hidrocystoma |
HDR001 |
|
| Hidrotic Ectodermal Dysplasia 2 |
HDR007 |
|
| High Bone Mass Osteogenesis Imperfecta |
HGH023 |
|
| High Bone Mass Trait |
HGH024 |
HBM |
| High Molecular Weight Kininogen Deficiency |
HGH020 |
HMWK DEFICIENCY |
| High Pressure Neurological Syndrome |
HGH001 |
|
| Hilar Cholangiocellular Carcinoma |
HLR004 |
|
| Hip Dysplasia, Beukes Type |
HPD003 |
BFHD |
| Hip Luxation |
HPL001 |
|
| Hirschsprung Disease 1 |
HRS035 |
HSCR1 |
| Hirschsprung Disease 2 |
HRS036 |
HSCR2 |
| Hirschsprung Disease 3 |
HRS034 |
HSCR3 |
| Hirschsprung Disease 4 |
HRS029 |
HSCR4 |
| Hirschsprung Disease 5 |
HRS027 |
|
| Hirschsprung Disease 6 |
HRS028 |
|
| Hirschsprung Disease 7 |
HRS026 |
|
| Hirschsprung Disease 8 |
HRS025 |
|
| Hirschsprung Disease 9 |
HRS024 |
|
| Hirschsprung Disease Ganglioneuroblastoma |
HRS003 |
|
| Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction |
HRS016 |
HCAD |
| Histidine Metabolism Disease |
HST007 |
|
| Histidinemia |
HST006 |
HISTID |
| Histiocytic and Dendritic Cell Cancer |
HST008 |
|
| Histiocytic Sarcoma |
HST016 |
|
| Histiocytoid Hemangioma |
HST004 |
|
| Histiocytoma |
HST009 |
|
| Histiocytoma, Angiomatoid Fibrous, Somatic |
HST014 |
AFH |
| Histiocytosis |
HST010 |
|
| Histiocytosis-Lymphadenopathy Plus Syndrome |
HST017 |
HLAS |
| Histoplasmosis |
HST011 |
|
| Histrionic Personality Disorder |
HST001 |
|
| Hiv-1 |
HV1006 |
AIDS |
| Hivep2-Related Intellectual Disability |
HVP001 |
MRD43 |
| Hjv -Related Juvenile Hemochromatosis |
HJV001 |
|
| Hla-a-Related Altered Drug Metabolism |
HLR005 |
|
| Hla-B-Related Altered Drug Metabolism |
HLB001 |
|
| Hmg-Coa Lyase Deficiency |
HMG006 |
HMGCLD |
| Hmg-Coa Synthase-2 Deficiency |
HMG019 |
HMGCS2D |
| Hnf4a-Related Hyperinsulinism |
HNF002 |
|
| Hnrnpa1-Related Amyotrophic Lateral Sclerosis |
HNR002 |
ALS20 |
| Hobnail Hemangioma |
HBN001 |
|
| Hodgkin Lymphoma |
HDG012 |
CHL |
| Hodgkin's Lymphoma, Lymphocytic Depletion |
HDG003 |
|
| Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance |
HDG002 |
|
| Hodgkin's Lymphoma, Mixed Cellularity |
HDG005 |
MCHL |
| Hodgkin's Lymphoma, Nodular Sclerosis |
HDG001 |
NSHL |
| Hodgkin's Paragranuloma |
HDG006 |
|
| Holocarboxylase Synthetase Deficiency |
HLC001 |
HLCS DEFICIENCY |
| Holoprosencephaly |
HLP001 |
HPE |
| Holoprosencephaly 1 |
HLP023 |
HPE1 |
| Holoprosencephaly 11 |
HLP016 |
HPE11 |
| Holoprosencephaly 6 |
HLP021 |
HPE6 |
| Holoprosencephaly 8 |
HLP022 |
HPE8 |
| Holoprosencephaly-2 |
HLP014 |
HPE2 |
| Holoprosencephaly-3 |
HLP012 |
HPE3 |
| Holoprosencephaly-4 |
HLP013 |
HPE4 |
| Holoprosencephaly-5 |
HLP008 |
HPE5 |
| Holoprosencephaly-7 |
HLP011 |
HPE7 |
| Holoprosencephaly-9 |
HLP009 |
HPE9 |
| Holoprosencephaly, Recurrent Infections, and Monocytosis |
HLP004 |
|
| Holt-Oram Syndrome |
HLT001 |
HOS |
| Homocarnosinosis |
HMC001 |
|
| Homocysteinemia |
HMC014 |
|
| Homocystinuria |
HMC002 |
|
| Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency |
HMC030 |
|
| Homocystinuria Due to Cbs Deficiency |
HMC016 |
|
| Homocystinuria Due to Mthfr Deficiency |
HMC006 |
MTHFRD |
| Homocystinuria-Megaloblastic Anemia, Cbl E Type |
HMC023 |
HMAE |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
HMC033 |
HMAG |
| Homocystinuria, B6-Responsive and Nonresponsive Types |
HMC020 |
CBSD |
| Homozygous Familial Hypercholesterolemia |
HMZ003 |
HOFH |
| Hordeolum |
HRD022 |
STYE |
| Hormone Producing Pituitary Cancer |
HRM003 |
|
| Horner's Syndrome |
HRN001 |
|
| Horseshoe Kidney |
HRS011 |
|
| Hoxa1-Related Disorders |
HX1001 |
|
| Hoxd13-Related Brachydactyly |
HXD001 |
|
| Hprt-Related Gout |
HPR001 |
GOUT-HPRT |
| Hpse2-Related Urofacial Syndrome |
HPS002 |
|
| Hs6st1-Related Isolated Gonadotropin-Releasing Hormone Deficiency |
HS6001 |
HH15 |
| Hsd10 Disease, Infantile Type |
HSD001 |
|
| Hsd10 Disease, Neonatal Type |
HSD002 |
|
| Htlv-1 Associated Myelopathy/tropical Spastic Paraparesis |
HTL001 |
|
| Htr2a-Related Altered Drug Metabolism |
HTR016 |
|
| Htr2c-Related Altered Drug Metabolism |
HTR017 |
|
| Htra2-Related Parkinson Disease |
HTR006 |
|
| Human Granulocytic Anaplasmosis |
HMN002 |
HGE |
| Human Herpesvirus 8 |
HMN032 |
HHV8 |
| Human Immunodeficiency Virus Infectious Disease |
HMN014 |
|
| Human Monocytic Ehrlichiosis |
HMN001 |
HME |
| Human T-Cell Leukemia Virus Type 1 |
HMN021 |
|
| Human T-Cell Leukemia Virus Type 2 |
HMN022 |
|
| Human Venous Malformation |
HMN031 |
|
| Humeroradial Synostosis |
HMR015 |
|
| Huntington Disease |
HNT016 |
HD |
| Huntington Disease-Like 1 |
HNT010 |
HDL1 |
| Huntington Disease-Like 2 |
HNT004 |
HDL2 |
| Huntington Disease-Like 3 |
HNT011 |
HDL3 |
| Huntington Disease-Like Syndrome |
HNT013 |
|
| Huntington Disease-Like Syndrome Due to C9orf72 Expansions |
HNT014 |
|
| Huriez Syndrome |
HRZ001 |
TS |
| Hutchinson-Gilford Progeria |
HTC002 |
HGPS |
| Hyaline Fibromatosis Syndrome |
HYL004 |
HFS |
| Hyalinosis, Inherited Systemic |
HYL002 |
|
| Hydatidiform Mole, Recurrent, 1 |
HYD046 |
HYDM1 |
| Hydatidiform Mole, Recurrent, 2 |
HYD041 |
HYDM2 |
| Hydranencephaly |
HYD001 |
|
| Hydrarthrosis |
HYD003 |
|
| Hydrocele |
HYD005 |
|
| Hydrocephalus |
HYD006 |
|
| Hydrocephalus Due to Aqueductal Stenosis |
HYD008 |
HSAS |
| Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius |
HYD019 |
HSAS |
| Hydrocephalus, Nonsyndromic, Autosomal Recessive |
HYD047 |
HYC1 |
| Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 |
HYD043 |
HYC2 |
| Hydrolethalus Syndrome |
HYD011 |
HLS1 |
| Hydrolethalus Syndrome 2 |
HYD040 |
HLS2 |
| Hydromyelia |
HYD034 |
|
| Hydronephrosis |
HYD002 |
|
| Hydrophthalmos |
HYD007 |
|
| Hydrops Fetalis |
HYD012 |
|
| Hydrops Fetalis, Non-Immune, and/or Atrial Septal Defect |
HYD057 |
HFASD |
| Hydrops Fetalis, Nonimmune |
HYD038 |
HF |
| Hydrops of Gallbladder |
HYD004 |
|
| Hydrops, Lactic Acidosis, and Sideroblastic Anemia |
HYD058 |
HLASA |
| Hydroxykynureninuria |
HYD030 |
HYXKY |
| Hymenolepiasis |
HYM001 |
|
| Hyper Ige Syndrome |
HYP458 |
HIES |
| Hyper-Igd Syndrome |
HYP088 |
HIDS |
| Hyper-Ige Recurrent Infection Syndrome |
HYP345 |
AD-HIES |
| Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive |
HYP373 |
AR-HIES |
| Hyperacusis |
HYP144 |
|
| Hyperaldosteronism |
HYP065 |
|
| Hyperaldosteronism, Familial, Type Ii |
HYP600 |
FH2 |
| Hyperaldosteronism, Familial, Type Iii |
HYP438 |
HALD3 |
| Hyperaldosteronism, Familial, Type Iv |
HYP708 |
HALD4 |
| Hyperalphalipoproteinemia |
HYP090 |
HALP1 |
| Hyperammonemia |
HYP391 |
|
| Hyperammonemia Due to Carbonic Anhydrase Va Deficiency |
HYP579 |
CA5AD |
| Hyperandrogenism |
HYP043 |
|
| Hyperandrogenism Due to Cortisone Reductase Deficiency |
HYP625 |
|
| Hyperbilirubinemia, Familial Transient Neonatal |
HYP618 |
HBLRTFN |
| Hyperbilirubinemia, Rotor Type, Digenic |
HYP554 |
HBLRR |
| Hyperbiliverdinemia |
HYP481 |
HBLVD |
| Hypercalcemia, Infantile |
HYP237 |
HCINF1 |
| Hypercalcemia, Infantile, 2 |
HYP712 |
HCINF2 |
| Hypercalcemic Type Ovarian Small Cell Carcinoma |
HYP053 |
|
| Hypercalciuria, Absorptive |
HYP268 |
HCA2 |
| Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant |
HYP276 |
ADHVAD |
| Hypercementosis |
HYP021 |
|
| Hyperchlorhidrosis, Isolated |
HYP267 |
HCHLH |
| Hypercholanemia, Familial |
HYP279 |
FHCA |
| Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency |
HYP485 |
|
| Hypercholesterolemia, Due to Ligand-Defective Apo B |
HYP288 |
FDB |
| Hypercholesterolemia, Familial |
HYP607 |
FH |
| Hypercholesterolemia, Familial, 3 |
HYP272 |
HCHOLA3 |
| Hypercholesterolemia, Familial, Autosomal Recessive |
HYP367 |
ARH |
| Hyperchylomicronemia, Late-Onset |
HYP286 |
HLPP5 |
| Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency |
HYP642 |
|
| Hyperekplexia |
HYP097 |
STHE |
| Hyperekplexia 1 |
HYP699 |
HKPX1 |
| Hyperekplexia 2, Autosomal Recessive |
HYP536 |
HKPX2 |
| Hyperekplexia 3 |
HYP519 |
HKPX3 |
| Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive |
HYP539 |
HKPX1 |
| Hypereosinophilic Syndrome |
HYP098 |
HES |
| Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib |
HYP319 |
|
| Hyperferritinemia-Cataract Syndrome |
HYP099 |
|
| Hyperglobulinemic Purpura |
HYP018 |
|
| Hyperglycemia |
HYP066 |
|
| Hyperglycinuria |
HYP348 |
HG |
| Hyperhidrosis Palmaris Et Plantaris |
HYP560 |
|
| Hyperhomocysteinemia |
HYP037 |
|
| Hyperimmunoglobulin Syndrome |
HYP067 |
|
| Hyperinsulinemic Hypoglycemia |
HYP050 |
|
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
HYP304 |
HHF1 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
HYP604 |
HHF2 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
HYP601 |
HHF3 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
HYP271 |
HHF4 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
HYP326 |
HHF5 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
HYP349 |
HHF7 |
| Hyperinsulinism |
HYP060 |
|
| Hyperinsulinism Due to Hnf1a Deficiency |
HYP490 |
|
| Hyperinsulinism Due to Hnf4a Deficiency |
HYP479 |
|
| Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
HYP657 |
|
| Hyperinsulinism Due to Ucp2 Deficiency |
HYP482 |
|
| Hyperinsulinism-Hyperammonemia Syndrome |
HYP101 |
HHF6 |
| Hyperkalemic Periodic Paralysis Type 1 |
HYP142 |
|
| Hyperkalemic Periodic Paralysis, Type 2 |
HYP366 |
HYPP |
| Hyperkeratosis Lenticularis Perstans |
HYP160 |
HLP |
| Hyperleucine-Isoleucinemia |
HYP240 |
|
| Hyperlipidemia Type 3 |
HYP163 |
CAD |
| Hyperlipidemia, Combined, 2 |
HYP333 |
|
| Hyperlipidemia, Familial Combined |
HYP614 |
HYPLIP1 |
| Hyperlipoproteinemia Type Iii |
HYP011 |
|
| Hyperlipoproteinemia Type Iv |
HYP032 |
|
| Hyperlipoproteinemia, Type 1d |
HYP592 |
HLPP1D |
| Hyperlipoproteinemia, Type Ib |
HYP289 |
HLPP1B |
| Hyperlucent Lung |
HYP015 |
|
| Hyperlysinemia |
HYP036 |
HYPLYS1 |
| Hypermanganesemia with Dystonia 2 |
HYP713 |
HMNDYT2 |
| Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis |
HYP598 |
HMNDYT1 |
| Hypermethioninemia |
HYP003 |
MET |
| Hypermethioninemia Due to Adenosine Kinase Deficiency |
HYP241 |
HMAKD |
| Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase |
HYP624 |
HMAHCHD |
| Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency |
HYP269 |
MATD |
| Hypermobility Syndrome |
HYP007 |
|
| Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome |
HYP107 |
HHH SYNDROME |
| Hyperostosis |
HYP068 |
|
| Hyperostosis Cranialis Interna |
HYP674 |
|
| Hyperostosis, Endosteal |
HYP299 |
WENHY |
| Hyperoxaluria, Primary, Type 1 |
HYP617 |
HP1 |
| Hyperoxaluria, Primary, Type Ii |
HYP602 |
HP2 |
| Hyperoxaluria, Primary, Type Iii |
HYP603 |
HP3 |
| Hyperparathyroidism |
HYP069 |
|
| Hyperparathyroidism 3 |
HYP311 |
FIHP |
| Hyperparathyroidism-Jaw Tumor Syndrome |
HYP108 |
HRPT2 |
| Hyperparathyroidism, Familial Primary |
HYP615 |
HRPT1 |
| Hyperparathyroidism, Neonatal |
HYP315 |
NSHPT |
| Hyperphalangy |
HYP497 |
|
| Hyperphenylalaninemia |
HYP141 |
HPA |
| Hyperphenylalaninemia Due to Dehydratase Deficiency |
HYP171 |
|
| Hyperphenylalaninemia, Bh4-Deficient, a |
HYP331 |
HPABH4A |
| Hyperphenylalaninemia, Bh4-Deficient, B |
HYP605 |
HPABH4B |
| Hyperphenylalaninemia, Bh4-Deficient, C |
HYP368 |
HPABH4C |
| Hyperphenylalaninemia, Bh4-Deficient, D |
HYP365 |
HPABH4D |
| Hyperphenylalaninemia, Mild and Non-Bh4-Deficient |
HYP709 |
|
| Hyperphosphatasia with Mental Retardation Syndrome |
HYP440 |
|
| Hyperphosphatasia with Mental Retardation Syndrome 1 |
HYP441 |
HPMRS1 |
| Hyperphosphatasia with Mental Retardation Syndrome 2 |
HYP442 |
HPMRS2 |
| Hyperphosphatasia with Mental Retardation Syndrome 3 |
HYP553 |
HPMRS3 |
| Hyperphosphatasia with Mental Retardation Syndrome 4 |
HYP580 |
HPMRS4 |
| Hyperphosphatasia with Mental Retardation Syndrome 5 |
HYP593 |
HPMRS5 |
| Hyperphosphatasia with Mental Retardation Syndrome 6 |
HYP697 |
HPMRS6 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
HYP629 |
HPMR |
| Hyperphosphatemia |
HYP025 |
|
| Hyperphosphatemic Familial Tumoral Calcinosis, Fgf23-Related |
HYP244 |
|
| Hyperphosphatemic Familial Tumoral Calcinosis, Galnt3-Related |
HYP245 |
|
| Hyperphosphatemic Familial Tumoral Calcinosis, Kl-Related |
HYP246 |
|
| Hyperpigmentation with or Without Hypopigmentation |
HYP649 |
FPHH |
| Hyperpigmentation, Familial Progressive, 1 |
HYP563 |
|
| Hyperpituitarism |
HYP070 |
|
| Hyperplastic Polyposis Syndrome |
HYP466 |
|
| Hyperproinsulinemia |
HYP110 |
HPRI |
| Hyperprolactinemia |
HYP020 |
HPRL |
| Hyperprolinemia |
HYP111 |
|
| Hyperprolinemia, Type I |
HYP248 |
HYRPRO1 |
| Hyperprolinemia, Type Ii |
HYP597 |
HYRPRO2 |
| Hypersensitivity Pneumonitis, Familial |
HYP692 |
|
| Hypersensitivity Reaction Type Ii Disease |
HYP071 |
|
| Hypersensitivity Reaction Type Iii Disease |
HYP072 |
|
| Hypersensitivity Reaction Type Iv Disease |
HYP073 |
|
| Hypersensitivity Syndrome, Carbamazepine-Induced |
HYP542 |
SJS |
| Hypersensitivity Vasculitis |
HYP074 |
|
| Hypersomnia |
HYP263 |
|
| Hypersplenism |
HYP063 |
|
| Hypertelorism, Microtia, Facial Clefting Syndrome |
HYP059 |
|
| Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness |
HYP561 |
HPPD |
| Hypertelorism, Teebi Type |
HYP682 |
|
| Hypertension and Brachydactyly Syndrome |
HYP648 |
HTNB |
| Hypertension, Diastolic |
HYP540 |
|
| Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy |
HYP327 |
EOHSEP |
| Hypertension, Essential |
HYP595 |
EHT |
| Hypertension, Essential 7 |
HYP453 |
|
| Hypertension, Essential 8 |
HYP454 |
|
| Hypertensive Encephalopathy |
HYP034 |
|
| Hypertensive Heart Disease |
HYP006 |
|
| Hypertensive Nephropathy |
HYP114 |
|
| Hypertensive Retinopathy |
HYP008 |
|
| Hyperthyroidism |
HYP076 |
|
| Hyperthyroidism, Familial Gestational |
HYP344 |
HTFG |
| Hyperthyroidism, Nonautoimmune |
HYP249 |
HTNA |
| Hyperthyroxinemia |
HYP029 |
|
| Hyperthyroxinemia, Dystransthyretinemic |
HYP645 |
DTTRH |
| Hyperthyroxinemia, Familial Dysalbuminemic |
HYP677 |
FDAH |
| Hypertonia |
HYP264 |
|
| Hypertrichosis |
HYP077 |
|
| Hypertrichosis Terminalis, Generalized, with or Without Gingival Hyperplasia |
HYP308 |
CGHT |
| Hypertrichosis Universalis Congenita |
HYP116 |
|
| Hypertrichosis Universalis Congenita, Ambras Type |
HYP351 |
HTC1 |
| Hypertrichotic Osteochondrodysplasia |
HYP622 |
HTOCD |
| Hypertrichotic Osteochondrodysplasia Cantu Type |
HYP695 |
|
| Hypertriglyceridemia |
HYP117 |
FHTR |
| Hypertriglyceridemia, Transient Infantile |
HYP555 |
HTGTI |
| Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation |
HYP492 |
|
| Hypertrophic Cardiomyopathy, Midventricular, Digenic |
HYP250 |
|
| Hypertrophic Olivary Degeneration |
HYP707 |
HOD |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 |
HYP533 |
PHOAR2 |
| Hypertrophic Pyloric Stenosis |
HYP009 |
|
| Hypertrophic Scars |
HYP457 |
|
| Hypertrophy of Breast |
HYP078 |
|
| Hypertropia |
HYP047 |
|
| Hyperuricemia |
HYP014 |
|
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis |
HYP251 |
HUPRAS |
| Hyperuricemic Nephropathy, Familial Juvenile 1 |
HYP623 |
HNFJ1 |
| Hyperuricemic Nephropathy, Familial Juvenile 2 |
HYP616 |
HNFJ2 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
HYP529 |
|
| Hypervitaminosis a |
HYP058 |
|
| Hypervitaminosis D |
HYP057 |
|
| Hypoactive Sexual Desire Disorder |
HYP030 |
|
| Hypoadrenalism |
HYP189 |
|
| Hypoaldosteronism |
HYP120 |
|
| Hypoaldosteronism, Congenital, Due to Cmo I Deficiency |
HYP322 |
CMO-1 DEFICIENCY |
| Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency |
HYP321 |
CMO-2 DEFICIENCY |
| Hypoalphalipoproteinemia |
HYP121 |
HDLD2 |
| Hypobetalipoproteinemia |
HYP027 |
FHBL1 |
| Hypobetalipoproteinemia, Familial, 2 |
HYP290 |
FHBL2 |
| Hypocalcemia, Autosomal Dominant |
HYP192 |
HYPOC1 |
| Hypocalcemia, Autosomal Dominant 2 |
HYP564 |
HYPOC2 |
| Hypocalcemic Vitamin D-Dependent Rickets |
HYP636 |
VDDI |
| Hypocalcified Amelogenesis Imperfecta |
HYP644 |
|
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
HYP608 |
HHC3 |
| Hypocalciuric Hypercalcemia, Type I |
HYP314 |
HHC1 |
| Hypocalciuric Hypercalcemia, Type Ii |
HYP317 |
HHC2 |
| Hypochondriasis |
HYP016 |
|
| Hypochondrogenesis |
HYP041 |
|
| Hypochondroplasia |
HYP042 |
HCH |
| Hypochromic Microcytic Anemia with Iron Overload |
HYP252 |
|
| Hypocomplementemic Urticarial Vasculitis |
HYP193 |
|
| Hypoganglionosis |
HYP572 |
|
| Hypoglossal Nerve Neoplasm |
HYP079 |
|
| Hypoglycemia |
HYP056 |
|
| Hypoglycemia of Infancy, Leucine-Sensitive |
HYP619 |
LIH |
| Hypoglycemic Coma |
HYP026 |
|
| Hypogonadism |
HYP080 |
|
| Hypogonadotropic Hypogonadism 1 with or Without Anosmia |
HYP513 |
HH1 |
| Hypogonadotropic Hypogonadism 10 with or Without Anosmia |
HYP521 |
HH10 |
| Hypogonadotropic Hypogonadism 11 with or Without Anosmia |
HYP522 |
HH11 |
| Hypogonadotropic Hypogonadism 12 with or Without Anosmia |
HYP547 |
HH12 |
| Hypogonadotropic Hypogonadism 13 with or Without Anosmia |
HYP443 |
HH13 |
| Hypogonadotropic Hypogonadism 14 with or Without Anosmia |
HYP523 |
HH14 |
| Hypogonadotropic Hypogonadism 15 with or Without Anosmia |
HYP511 |
HH15 |
| Hypogonadotropic Hypogonadism 16 with or Without Anosmia |
HYP518 |
HH16 |
| Hypogonadotropic Hypogonadism 17 with or Without Anosmia |
HYP538 |
HH17 |
| Hypogonadotropic Hypogonadism 18 with or Without Anosmia |
HYP532 |
HH18 |
| Hypogonadotropic Hypogonadism 19 with or Without Anosmia |
HYP557 |
HH19 |
| Hypogonadotropic Hypogonadism 2 with or Without Anosmia |
HYP548 |
HH2 |
| Hypogonadotropic Hypogonadism 20 with or Without Anosmia |
HYP546 |
HH20 |
| Hypogonadotropic Hypogonadism 21 with Anosmia |
HYP566 |
HH21 |
| Hypogonadotropic Hypogonadism 23 with or Without Anosmia |
HYP651 |
HH23 |
| Hypogonadotropic Hypogonadism 24 Without Anosmia |
HYP647 |
HH24 |
| Hypogonadotropic Hypogonadism 3 with or Without Anosmia |
HYP565 |
HH3 |
| Hypogonadotropic Hypogonadism 4 with or Without Anosmia |
HYP531 |
HH4 |
| Hypogonadotropic Hypogonadism 5 with or Without Anosmia |
HYP549 |
HH5 |
| Hypogonadotropic Hypogonadism 6 with or Without Anosmia |
HYP552 |
HH6 |
| Hypogonadotropic Hypogonadism 7 Without Anosmia |
HYP586 |
HH7 |
| Hypogonadotropic Hypogonadism 8 with or Without Anosmia |
HYP514 |
HH8 |
| Hypogonadotropic Hypogonadism 9 with or Without Anosmia |
HYP444 |
HH9 |
| Hypogonadotropic Hypogonadism with or Without Anosmia |
HYP590 |
HH22 |
| Hypogonadotropism |
HYP064 |
|
| Hypohidrosis |
HYP022 |
|
| Hypohidrotic Ectodermal Dysplasia Autosomal Recessive |
HYP206 |
|
| Hypohidrotic Ectodermal Dysplasia with Immunodeficiency |
HYP643 |
|
| Hypohidrotic Ectodermal Dysplasia, Autosomal |
HYP253 |
ADAED |
| Hypoinsulinemic Hypoglycemia with Hemihypertrophy |
HYP524 |
HIHGHH |
| Hypokalemia |
HYP005 |
|
| Hypokalemic Periodic Paralysis, Type 1 |
HYP370 |
HOKPP1 |
| Hypokalemic Periodic Paralysis, Type 2 |
HYP606 |
HOKPP2 |
| Hypolipoproteinemia |
HYP081 |
|
| Hypomagnesemia 1, Intestinal |
HYP550 |
HOMG1 |
| Hypomagnesemia 2, Renal |
HYP210 |
HOMG2 |
| Hypomagnesemia 3, Renal |
HYP534 |
HOMG3 |
| Hypomagnesemia 4, Renal |
HYP302 |
HOMG4 |
| Hypomagnesemia 5, Renal, with Ocular Involvement |
HYP527 |
HOMG5 |
| Hypomagnesemia 6, Renal |
HYP445 |
HOMG6 |
| Hypomagnesemia, Seizures, and Mental Retardation |
HYP646 |
HOMGSMR |
| Hypomelanosis of Ito |
HYP691 |
IPA |
| Hypomyelinating Leukodystrophy |
HYP700 |
HLD |
| Hypomyelinating Leukodystrophy 12 |
HYP702 |
HLD12 |
| Hypomyelinating Leukodystrophy 13 |
HYP701 |
HLD13 |
| Hypomyelinating Leukoencephalopathy |
HYP659 |
|
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
HYP671 |
|
| Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity |
HYP530 |
HBSL |
| Hypomyelination, Global Cerebral |
HYP377 |
EIEE39 |
| Hypoparathyroidism |
HYP024 |
|
| Hypoparathyroidism-Deafness-Renal Disease Syndrome |
HYP666 |
|
| Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome |
HYP696 |
SSS |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
HYP134 |
HRDS |
| Hypoparathyroidism, Familial Isolated |
HYP599 |
FIH |
| Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia |
HYP291 |
HDR |
| Hypoparathyroidism, X-Linked |
HYP611 |
|
| Hypopharynx Cancer |
HYP082 |
|
| Hypophosphatasia |
HYP035 |
HPP |
| Hypophosphatasia, Adult |
HYP293 |
HOPS |
| Hypophosphatasia, Childhood |
HYP596 |
HOPSC |
| Hypophosphatasia, Infantile |
HYP292 |
HOPSI |
| Hypophosphatemia |
HYP017 |
|
| Hypophosphatemic Rickets |
HYP613 |
XLRHR |
| Hypophosphatemic Rickets and Hyperparathyroidism |
HYP312 |
|
| Hypophosphatemic Rickets with Hypercalciuria |
HYP135 |
HHRH |
| Hypophosphatemic Rickets, Ar |
HYP320 |
ARHR1 |
| Hypophosphatemic Rickets, Autosomal Dominant |
HYP260 |
ADHR |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
HYP369 |
ARHR2 |
| Hypophosphatemic Rickets, X-Linked Dominant |
HYP609 |
XLHR |
| Hypopituitarism |
HYP083 |
|
| Hypoplastic Amelogenesis Imperfecta |
HYP658 |
|
| Hypoplastic Left Heart Syndrome |
HYP055 |
HLHS |
| Hypoplastic Left Heart Syndrome 1 |
HYP543 |
HLHS1 |
| Hypoplastic Left Heart Syndrome 2 |
HYP517 |
HLHS2 |
| Hypoplastic or Aplastic Tibia with Polydactyly |
HYP591 |
THYP |
| Hypoproteinemia, Hypercatabolic |
HYP281 |
IMD43 |
| Hypoprothrombinemia |
HYP620 |
FA2D |
| Hypopyon |
HYP084 |
|
| Hyporeninemic Hypoaldosteronism |
HYP226 |
|
| Hypospadias |
HYP040 |
|
| Hypospadias 1, X-Linked |
HYP284 |
HYSP1 |
| Hypospadias 2, X-Linked |
HYP270 |
HYSP2 |
| Hypospadias 3, Autosomal |
HYP545 |
|
| Hypospadias 4, X-Linked |
HYP653 |
|
| Hypothalamic Disease |
HYP085 |
|
| Hypothalamic Hamartomas |
HYP231 |
|
| Hypothalamic Hamartomas, Somatic |
HYP277 |
|
| Hypothalamic Neoplasm |
HYP002 |
|
| Hypothryoidism, Congenital, Nongoitrous 4 |
HYP343 |
CHNG4 |
| Hypothyroidism |
HYP086 |
|
| Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function |
HYP488 |
|
| Hypothyroidism, Central, and Testicular Enlargement |
HYP610 |
CHTE |
| Hypothyroidism, Congenital Nongoitrous, 5 |
HYP354 |
CHNG5 |
| Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia |
HYP273 |
CHNG2 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
HYP374 |
CHNG1 |
| Hypothyroidism, Congenital, Nongoitrous, 3 |
HYP355 |
|
| Hypothyroidism, Congenital, Nongoitrous, 6 |
HYP562 |
CHNG6 |
| Hypotonia |
HYP265 |
|
| Hypotonia-Cystinuria Syndrome |
HYP347 |
HCS |
| Hypotonia-Homocystinuria Syndrome |
HYP710 |
|
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
HYP638 |
|
| Hypotonia, Ataxia, and Delayed Development Syndrome |
HYP711 |
HADDS |
| Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies |
HYP650 |
IHPRF1 |
| Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 |
HYP698 |
IHPRF2 |
| Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 |
HYP714 |
IHPRF3 |
| Hypotrichosis |
HYP087 |
|
| Hypotrichosis 1 |
HYP507 |
HYPT1 |
| Hypotrichosis 10 |
HYP544 |
|
| Hypotrichosis 11 |
HYP528 |
HYPT11 |
| Hypotrichosis 12 |
HYP578 |
HYPT12 |
| Hypotrichosis 13 |
HYP577 |
HYPT13 |
| Hypotrichosis 2 |
HYP525 |
HYPT2 |
| Hypotrichosis 3 |
HYP515 |
HYPT3 |
| Hypotrichosis 4 |
HYP576 |
HYPT4 |
| Hypotrichosis 5 |
HYP573 |
HYPT5 |
| Hypotrichosis 6 |
HYP581 |
HYPT6 |
| Hypotrichosis 7 |
HYP575 |
HYPT7 |
| Hypotrichosis 8 |
HYP559 |
HYPT8 |
| Hypotrichosis 9 |
HYP551 |
HYPT9 |
| Hypotrichosis and Recurrent Skin Vesicles |
HYP346 |
HRSV |
| Hypotrichosis Simplex |
HYP137 |
HHS |
| Hypotrichosis Simplex of the Scalp |
HYP641 |
|
| Hypotrichosis-Deafness Syndrome |
HYP489 |
|
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
HYP139 |
HLTS |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
HYP652 |
HLTRS |
| Hypotrichosis, Congenital, with Juvenile Macular Dystrophy |
HYP332 |
HJMD |
| Hypotropia |
HYP048 |
|
| Hypouricemia, Renal |
HYP612 |
RHUC1 |
| Hypouricemia, Renal, 2 |
HYP376 |
RHUC2 |
| Hypoxia |
HYP266 |
|
| Hystrix-Like Ichthyosis with Deafness |
HYS001 |
HID SYNDROME |
