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 Beh├žet-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