Disease Name Symbol Acronym
Hadziselimovic Syndrome HDZ001
Haemonchiasis HMN005
Haemophilus Influenzae HMP009
Haemophilus Meningitis HMP030
Haim-Munk Syndrome HMM002 HMS
Hair Defect with Photosensitivity and Mental Retardation HRD035
Hair Defect-Photosensitivity-Intellectual Disability Syndrome HRD179
Hair Disease HRD018
Hair Follicle Neoplasm HRF001
Hair Morphology 1 HRM022 HRM1
Hair Morphology 2 HRM021 HRM2
Hair Whorl HRW001 CROWN
Hair-an Syndrome HRN019
Hairy Cell Leukemia HRY003 HCL
Hairy Ears, Y-Linked HRY009
Hairy Elbows HRY005
Hairy Nose Tip HRY006 HNT
Hairy Palms and Soles HRY007
Hairy Tongue HRY002
Hajdu-Cheney Syndrome HJD001 HJCYS
Halal Setton Wang Syndrome HLL006
Halal Syndrome HLL007
Hallermann-Streiff Syndrome HLL001 HSS
Hallermann-Streiff-Like Syndrome HLL012
Hall-Riggs Mental Retardation Syndrome HLL013
Hall-Riggs Syndrome HLL011
Hallucinogen Abuse HLL002
Hallucinogen Dependence HLL005
Hallux Varus and Preaxial Polysyndactyly HLL014
Halo Nevi HLN001
Halothane Hepatitis HLT002
Hamamy Syndrome HMM004 HMMS
Hamanishi Ueba Tsuji Syndrome HMN015
Hamartoma, Precalcaneal Congenital Fibrolipomatous HMR044 PCFH
Hand and Foot Deformity with Flat Facies HND005
Hand Clasping Pattern HND014
Hand Dermatosis HND001
Hand Skill, Relative HND015 HSR
Hand, Foot and Mouth Disease HND002
Hand-Foot-Genital Syndrome HND004 HFG
Handigodu Disease HND010
Handigodu Joint Disease HND012 HJD
Handl Syndrome HND013
Hanhart Syndrome HNH001
Hansen's Disease HNS001
Hantavirus Pulmonary Syndrome HNT002 HPS
Hard Palate Cancer HRD005
Hardikar Syndrome HRD037
Harding Ataxia HRD038 EOCA
Harel-Yoon Syndrome HRL006 HAYOS
Harlequin Syndrome HRL002
Harrod Doman Keele Syndrome HRR001
Harrod Syndrome HRR005
Hartnup Disorder HRT031 HND
Hartsfield Syndrome HRT030 HRTFDS
Hashimoto Encephalopathy HSH004 SREAT
Hashimoto Thyroiditis HSH003 HT
Hashimoto-Pritzker Syndrome HSH001
Haverhill Fever HVR001
Hawkinsinuria HWK001 HAWK
Head Injury HDN002
Headache HDC001
Headache Associated with Sexual Activity HDC005 BSH
Hearing Loss, Cisplatin-Induced HRN018 CIHL
Hearing Loss, Noise-Induced HRN029 NIHL
Heart and Brain Malformation Syndrome HRT037 HBMS
Heart Aneurysm HRT006
Heart Block, Congenital HRT035
Heart Cancer HRT007
Heart Conduction Disease HRT008
Heart Defect, Tongue Hamartoma and Polysyndactyly HRT016
Heart Defects, Congenital, and Other Congenital Anomalies HRT039 PACHD
Heart Disease HRT032
Heart Fibrosarcoma HRT002
Heart Leiomyosarcoma HRT005
Heart Lipoma HRT009
Heart Lymphoma HRT003
Heart Malignant Hemangiopericytoma HRT001
Heart Sarcoma HRT010
Heart Septal Defect HRT011
Heart Tumor HRT017
Heart Valve Disease HRT012
Heart, Malformation of HRT038
Heart-Hand Syndrome, Slovenian Type HRT018 HHS-SLOVENIAN
Heart-Hand Syndrome, Spanish Type HRT033
Heat-Shock Rna 1 HTS002 HSR1
Heavy Chain Deposition Disease HVY003 HCDD
Heavy Chain Disease HVY001 HCD
Heavy Metal Poisoning HVY002
Heel Spur HLS001
Heimler Syndrome 1 HML047 HMLR1
Heimler Syndrome 2 HML046 HMLR2
Heiner Syndrome HNR001
Heinz Body Anemias HNZ004 HEIBAN
Helicobacter Pylori Infection HLC007
Helix Syndrome HLX001 HELIX
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 Orbit HMN007
Hemangioma of Peripheral Nerve HMN006
Hemangioma of Spleen HMN003
Hemangioma of Subcutaneous Tissue HMN008
Hemangioma, Capillary Infantile HMN027 HCI
Hemangiomas of Small Intestine HMN039
Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe HMN034
Hemangioma-Thrombocytopenia Syndrome HMN035 KMP
Hemangiomatosis, Cutaneous, with Associated Features HMN042
Hemangiopericytoma, Malignant HMN036
Hemarthrosis HMR002
Hematocele of Tunica Vaginalis Testis HMT001
Hematocrit/hemoglobin Quantitative Trait Locus 1 HMT005
Hematocrit/hemoglobin Quantitative Trait Locus 2 HMT006
Hematocrit/hemoglobin Quantitative Trait Locus 3 HMT007
Hematohidrosis HMT019
Hematologic Cancer HMT002
Hematopoietic Stem Cell Kinetics, Control of HMT020
Hematopoietic Stem Cell Transplantation HMT018
Hematuria, Benign Familial HMT008 BFH
Heme Oxygenase 1 Deficiency HMX003 HMOX1D
Hemeralopia, Congenital Essential HMR010
Hemeralopia, Familial HMR011
Hemi 3 Syndrome HM3001
Hemicrania Continua HMC012
Hemidystonia HMD003
Hemidystonia-Hemiatrophy Syndrome HMD002
Hemifacial Atrophy Agenesis of the Caudate Nucleus HMF001
Hemifacial Atrophy, Progressive HMF008 HFA
Hemifacial Hyperplasia HMF009
Hemifacial Hyperplasia with Strabismus HMF007
Hemifacial Microsomia HMF006 HFM
Hemifacial Microsomia with Radial Defects HMF010
Hemifacial Myohyperplasia HMF003 HMH
Hemifacial Spasm HMF004
Hemifacial Spasm, Familial HMF011
Hemihyperplasia, Isolated HMH004 IH
Hemihyperplasia-Multiple Lipomatosis Syndrome HMH003 HHML
Hemimegalencephaly HMM003
Hemiparkinsonism-Hemiatrophy Syndrome HMP027
Hemiplegia HMP005
Hemiplegia Alterans HMP020
Hemiplegic Migraine HMP006
Hemochromatosis Type 2 HMC009 JHH
Hemochromatosis, Neonatal HMC038 NH
Hemochromatosis, Type 1 HMC039 HFE1
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 D Disease HMG004
Hemoglobin E Disease HMG003
Hemoglobin E-Beta-Thalassemia Syndrome HMG026
Hemoglobin H Disease HMG032 HBH
Hemoglobin Lepore-Beta-Thalassemia Syndrome HMG028
Hemoglobin Se Disease HMG029
Hemoglobin Zurich HMG009
Hemoglobin, High Altitude Adaptation HMG031 HALAH
Hemoglobinemia HMG010
Hemoglobinopathy HMG005
Hemoglobinopathy Toms River HMG024
Hemoglobinuria HMG002
Hemoglobin--Variants for Which the Chain Carrying the Mutation is Unknown or Uncertain HMG030
Hemolytic Anemia HML002
Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction HML041
Hemolytic Anemia Due to Glutathione Reductase Deficiency HML010
Hemolytic Anemia with Thermal Sensitivity of Red Cells HML051
Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy HML042 HACD59
Hemolytic Anemia, Congenital, X-Linked HML053
Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities HML049
Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency HML021 HA-GPID
Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency HML052 HK DEFICIENCY
Hemolytic Disease of the Newborn with Kell Alloimmunization HML043
Hemolytic Poikilocytic Anemia Due to Reduced Ankyrin Binding Sites HML050
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, Atypical, Childhood HML017
Hemolytic-Uremic Syndrome HML001 HUS
Hemometra HMM001
Hemopericardium HMP001
Hemophagocytic Lymphohistiocytosis HMP002 FEL
Hemophagocytic Lymphohistiocytosis, Familial, 1 HMP022 FEL
Hemophagocytic Lymphohistiocytosis, Familial, 2 HMP012 FHL2
Hemophagocytic Lymphohistiocytosis, Familial, 3 HMP013 FHL3
Hemophagocytic Lymphohistiocytosis, Familial, 4 HMP014 FHL4
Hemophagocytic Lymphohistiocytosis, Familial, 5 HMP023 FHL5
Hemophagocytic Reticulosis HMP015
Hemophagocytic Syndrome Associated with an Infection HMP028 IAHS
Hemophilia HMP007
Hemophilia a HMP029 HEMA
Hemophilia a with Vascular Abnormality HMP031
Hemophilia B HMP004 HEMB
Hemophilic Arthropathy HMP018
Hemopneumothorax HMP003
Hemopoietic Proliferation HMP032
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
Hemorrhagic Proctocolitis HMR013
Hemorrhagic Shock and Encephalopathy Syndrome HMR014 HSES
Hemorrhoid HMR005
Hemosiderosis HMS001
Hemosiderosis, Pulmonary, with Deficiency of Gamma-a Globulin HMS004
Hendra Virus Infection HND011
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 HNN005 HKLLS1
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 HNN004 HKLLS2
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 HNN006
Hennekam Syndrome HNN001
Hennekam Van Der Horst Syndrome HNN002
Henoch-Schoenlein Purpura HNC001
Hepadnavirus Infection HPD002
Heparane Sulfamidase Deficiency HPR002
Heparin Cofactor Ii Deficiency HPR006 THPH10
Heparin-Induced Thrombocytopenia HPR003 HAT
Hepatic Adenomas, Familial HPT082 HEPAF
Hepatic Angiomyolipoma HPT006
Hepatic Coma HPT004
Hepatic Cystic Hamartoma HPT028 MHL
Hepatic Encephalopathy HPT019
Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection HPT084 SM2
Hepatic Flexure Cancer HPT005
Hepatic Infarction HPT081
Hepatic Lipase Deficiency HPT025 HL DEFICIENCY
Hepatic Osteogenic Sarcoma HPT017
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 B Reinfection Following Liver Transplantation HPT075
Hepatitis B Vaccine, Response to HPT083
Hepatitis C HPT001 NANBH
Hepatitis C Virus HPT073 HCV
Hepatitis D HPT015 HDV
Hepatitis E HPT007
Hepatoblastoma HPT022 HBL
Hepatocellular Adenoma HPT067
Hepatocellular Carcinoma HPT023 HCC
Hepatocellular Clear Cell Carcinoma HPT011
Hepatoid Adenocarcinoma HPT079
Hepatoid Pattern Ovarian Yolk Sac Tumor HPT010
Hepatoid Pattern Testicular Yolk Sac Tumor HPT013
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 Alpha Tryptasemia Syndrome HRD193
Hereditary Amyloidosis HRD039
Hereditary Angioedema HRD002 HAE
Hereditary Antithrombin Deficiency HRD083
Hereditary Antithrombin Deficiency Type 2 HRD163
Hereditary Antithrombin Deficiency Type I HRD164
Hereditary Ataxia HRD026
Hereditary Breast Ovarian Cancer Syndrome HRD200 HBOC
Hereditary Central Diabetes Insipidus HRD156
Hereditary Cerebral Amyloid Angiopathy HRD084 CAA
Hereditary Choroidal Atrophy HRD019
Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors HRD160
Hereditary Congenital Facial Paresis HRD043 HCFP1
Hereditary Conventional Renal Cell Carcinoma HRD003
Hereditary Dystonia HRD198
Hereditary Elliptocytosis HRD012
Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke HRD044 RVCL
Hereditary Geniospasm HRD194 GSM 1
Hereditary Hearing Loss and Deafness HRD199
Hereditary Hemorrhagic Telangiectasia HRD008 HHT
Hereditary Hypercarotenemia and Vitamin a Deficiency HRD143
Hereditary Hyperuricemia HRD048
Hereditary Hypophosphatemic Rickets HRD086 VDRR
Hereditary Inclusion Body Myopathy Type 4 HRD119 HIBM4
Hereditary Late-Onset Parkinson Disease HRD173 LOPD
Hereditary Leiomyomatosis and Renal Cell Cancer HRD029 HLRCC
Hereditary Lymphedema HRD007
Hereditary Lymphedema I HRD202 PCL
Hereditary Methemoglobinemia HRD146
Hereditary Mixed Polyposis Syndrome HRD144 HMPS
Hereditary Motor and Sensory Neuropathy V HRD138 HMSN5
Hereditary Motor and Sensory Neuropathy with Acrodystrophy HRD175
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum HRD103 ACCPN
Hereditary Motor and Sensory Neuropathy, Type Iic HRD094 CMT2C
Hereditary Multiple Exostoses HRD001
Hereditary Multiple Osteochondromas HRD104 HMO
Hereditary Myopathy with Early Respiratory Failure HRD073 HMERF
Hereditary Myopathy with Intranuclear Filamentous HRD053
Hereditary Neuroendocrine Tumor of Small Intestine HRD181
Hereditary Nodular Heterotopia HRD055
Hereditary Orotic Aciduria Without Megaloblastic Anaemia HRD056
Hereditary Paraganglioma-Pheochromocytoma Syndromes HRD031 FPGL
Hereditary Peripheral Nervous Disorder HRD059
Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome HRD183
Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome HRD180
Hereditary Proximal Myopathy with Early Respiratory Failure HRD141 HMERF
Hereditary Pulmonary Alveolar Proteinosis HRD171
Hereditary Renal Cell Carcinoma HRD020
Hereditary Resistance to Anti-Vitamin K HRD061
Hereditary Retinal Dystrophy HRD016
Hereditary Sensorimotor Neuropathy with Hyperelastic Skin HRD105
Hereditary Sensory and Autonomic Neuropathy Type 1 HRD201 HSAN1
Hereditary Sensory and Autonomic Neuropathy with Deafness and Global Delay HRD108
Hereditary Sensory Neuropathy HRD021 HSAN
Hereditary Site-Specific Ovarian Cancer Syndrome HRD114
Hereditary Spastic Paraplegia HRD010 FSP
Hereditary Spastic Paraplegia 51 HRD186 CPSQ4
Hereditary Spastic Paraplegia 72 HRD188 SPG72
Hereditary Spherocytosis HRD011 HS
Hereditary Thrombocytopenia with Normal Platelets HRD112
Hereditary Type 1 Neuropathy HRD062
Hereditary Type 2 Neuropathy HRD063
Hereditary Vascular Retinopathy HRD064 HVR
Hereditary Wilms' Tumor HRD009 WT1
Hereditary Xanthinuria HRD142
Heritable Pulmonary Arterial Hypertension HRT015 FPAH
Heritable Thoracic Aortic Disease HRT036
Hermansky-Pudlak Syndrome HRM001 HPS
Hermansky-Pudlak Syndrome 1 HRM005 HPS1
Hermansky-Pudlak Syndrome 10 HRM020 HPS10
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
Hernández-Aguirre Negrete Syndrome HRN021
Hernia of Ovary and Fallopian Tube HRN002
Hernia, Anterior Diaphragmatic HRN027
Hernia, Double Inguinal HRN025
Hernia, Hiatus HRN026
Heroin Dependence HRN003
Herpangina HRP001
Herpes Gestationis HRP002
Herpes Simiae HRP008
Herpes Simplex HRP006
Herpes Simplex Encephalitis HRP009 HSE
Herpes Simplex Virus Keratitis HRP025
Herpes Virus Antenatal Infection HRP010
Herpes Zoster HRP004
Herpes Zoster Ophthalmicus HRP011 HZO
Herpesvirus Simiae B Virus HRP012
Herpetic Embryopathy HRP013
Herpetic Gastritis HRP003
Herpetic Whitlow HRP005
Herpetiform Pemphigus HRP026
Herrmann Opitz Arthrogryposis Syndrome HRR002
Herrmann Opitz Craniosynostosis HRR003
Hersh Podruch Weisskopk Syndrome HRS002
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 HTX3
Heterotaxy, Visceral, 4, Autosomal HTR010 HTX4
Heterotaxy, Visceral, 5, Autosomal HTR021 HTX5
Heterotaxy, Visceral, 6, Autosomal HTR023 HTX6
Heterotaxy, Visceral, 7, Autosomal HTR018 HTX7
Heterotaxy, Visceral, 8, Autosomal HTR020 HTX8
Heterotopia, Periventricular, Associated with Chromosome 5p Anomalies HTR022 PVNH3
Hexahydrophthalic Anhydride Allergic Asthma HXH001
Hexamethylene Diisocyanate Allergic Asthma HXM001
Hexosaminidase C HXS001 HEXC
Hfe-Associated Hereditary Hemochromatosis HFS001
Hhhh Syndrome HHH001
Hhv-6 Encephalitis HHV001
Hidradenitis HDR003
Hidradenitis Suppurativa HDR002
Hidradenocarcinoma HDR006
Hidradenoma HDR004
Hidrocystoma HDR001
Hidrotic Ectodermal Dysplasia 2 HDR007
High Anorectal Malformation HGH026
High Bone Mass Osteogenesis Imperfecta HGH023
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 1 HGH033 HDLC1
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 12 HGH039
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 14 HGH032
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 2 HGH034
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 3 HGH035
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 4 HGH036
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 5 HGH037
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 HGH038
High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement HGH031
High Molecular Weight Kininogen Deficiency HGH020 HMWK DEFICIENCY
High Pressure Neurological Syndrome HGH001
High-Grade Dysplasia in Patients with Barrett Esophagus HGH022
High-Grade Neuroendocrine Carcinoma of the Cervix Uteri HGH030
High-Grade Neuroendocrine Carcinoma of the Corpus Uteri HGH029
Hilar Lung Neoplasm HLR001
Hillig Syndrome HLL009
Hing Torack Dowston Syndrome HNG001
Hinman Syndrome HNM002 HS
Hip Luxation HPL001
Hip Subluxation HPS001
Hirata Disease HRT040
Hirschsprung Disease 1 HRS035 HSCR1
Hirschsprung Disease 2 HRS036 HSCR2
Hirschsprung Disease 3 HRS034 HSCR3
Hirschsprung Disease 4 HRS029 HSCR4
Hirschsprung Disease 5 HRS027 HSCR5
Hirschsprung Disease 6 HRS028 HSCR6
Hirschsprung Disease 7 HRS026 HSCR7
Hirschsprung Disease 8 HRS025 HSCR8
Hirschsprung Disease 9 HRS024 HSCR9
Hirschsprung Disease Ganglioneuroblastoma HRS003
Hirschsprung Disease Polydactyly Heart Disease HRS004
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly HRS042
Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features HRS038
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness HRS039
Hirschsprung Disease with Type D Brachydactyly HRS037
Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect HRS041
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction HRS016 HCAD
Hirschsprung Microcephaly Cleft Palate HRS008
Hirschsprung Nail Hypoplasia Dysmorphism HRS009
Hirsutism, Skeletal Dysplasia, and Mental Retardation HRS040
His Bundle Tachycardia HSB001 JET
Histidine Metabolism Disease HST007
Histidinemia HST006 HISTID
Histidinuria Due to a Renal Tubular Defect HST019
Histidinuria Renal Tubular Defect HST012
Histiocytic and Dendritic Cell Cancer HST008
Histiocytic Dermatoarthritis HST020
Histiocytic Sarcoma HST016
Histiocytoid Hemangioma HST004
Histiocytoma HST009
Histiocytoma, Angiomatoid Fibrous HST022 AFH
Histiocytosis HST010
Histiocytosis, Familial Lipochrome HST021
Histiocytosis, Progressive Mucinous HST018
Histiocytosis-Lymphadenopathy Plus Syndrome HST017 HLAS
Histoplasmosis HST011
Histoplasmosis Meningitis HST005
Histoplasmosis Pericarditis HST003
Histoplasmosis Retinitis HST002
Histrionic Personality Disorder HST001
Hiv-Associated Cancer HVS002
Hivep2-Related Intellectual Disability HVP001 MRD43
Hla Modifier HLM003
Hmg Coa Synthetase Deficiency HMG011
Ho Kaufman Mcalister Syndrome HKF001
Hobnail Hemangioma HBN001
Hodgkin Lymphoma, Childhood HDG009
Hodgkin Lymphoma, During Pregnancy HDG010
Hodgkin's Granuloma HDG004
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
Hole Retinal Cyst HLR003
Holmes Borden Syndrome HLM002
Holoacardius Amorphus HLC002
Holocarboxylase Synthetase Deficiency HLC001 HLCS DEFICIENCY
Holoprosencephaly HLP001 HPE
Holoprosencephaly 1 HLP023 HPE1
Holoprosencephaly 11 HLP016 HPE11
Holoprosencephaly 2 HLP024 HPE2
Holoprosencephaly 3 HLP026 HPE3
Holoprosencephaly 4 HLP029 HPE4
Holoprosencephaly 5 HLP028 HPE5
Holoprosencephaly 6 HLP021 HPE6
Holoprosencephaly 7 HLP027 HPE7
Holoprosencephaly 8 HLP022 HPE8
Holoprosencephaly 9 HLP025 HPE9
Holoprosencephaly Caudal Dysgenesis HLP002
Holoprosencephaly Ectrodactyly Cleft Lip Palate HLP003
Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence HLP020
Holoprosencephaly, Recurrent Infections, and Monocytosis HLP004
Holoprosencephaly, Semilobar, with Craniosynostosis HLP019
Holt-Oram Syndrome HLT001 HOS
Holzgreve Syndrome HLZ001
Homocarnosinosis HMC001
Homocysteinemia HMC014
Homocystinuria HMC002
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency HMC030
Homocystinuria Due to Cbs Deficiency HMC016
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency HMC040 CBSD
Homocystinuria Due to Defect in Methylation Cbl E HMC017
Homocystinuria Due to Defect in Methylation Cbl G HMC018
Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity HMC041 MTHFRD
Homocystinuria Without Methylmalonic Aciduria HMC036
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type HMC042 HMAE
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type HMC033 HMAG
Homologous Wasting Disease HML018
Homosexuality 1 HMS005 HMS1
Homozygous 11p15-P14 Deletion Syndrome HMZ004
Homozygous Familial Hypercholesterolemia HMZ003 HOFH
Honey-Droplet Corneal Dystrophy HNY001
Hooft Disease HFT001
Hoon Hall Syndrome HNH002
Hordeolum HRD022 STYE
Hordeolum Externum HRD017
Hordnes Engebretsen Knudtson Syndrome HRD065
Horizontal Gaze Palsy with Progressive Scoliosis HRZ002 HGPPS
Hormone Producing Pituitary Cancer HRM003
Horned Turban Snail Allergy HRN023
Horner Syndrome, Congenital HRN024
Horner's Syndrome HRN001
Horns in Sheep HRN028 HO
Horseshoe Kidney HRS011
Hot Water Reflex Epilepsy HTW001
Houlston Ironton Temple Syndrome HLS002
House Allergic Alveolitis HSL001
Hpa I Recognition Polymorphism, Beta-Globin-Related HPR005 HPA1
Hsd10 Mitochondrial Disease HSD004 HSD10MD
Htlv-1 Associated Myelopathy/tropical Spastic Paraparesis HTL001
Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease HTR019
Hughes-Stovin Syndrome HGH021
Human Granulocytic Anaplasmosis HMN002 HGE
Human Herpesvirus 8 HMN032 HHV8
Human Herpesvirus Type 6, Integrated HMN043
Human Immunodeficiency Virus Infectious Disease HMN014
Human Immunodeficiency Virus Type 1 HMN044 AIDS
Human Infection by Orthopoxvirus HMN033
Human Monocytic Ehrlichiosis HMN001 HME
Human Spumaretrovirus Infection HMN020
Human T-Cell Leukemia Virus Type 1 HMN021
Human T-Cell Leukemia Virus Type 2 HMN022
Human T-Cell Leukemia Virus Type 3 HMN023
Human Venous Malformation HMN031
Humeral Agenesis/hypoplasia HMR031
Humerofemoral Hypoplasia with Radiotibial Ray Deficiency HMR045 HHRRD
Humeroradial Synostosis HMR015
Humeroradial Synostosis with Craniofacial Anomalies HMR043
Humeroradioulnar Synostosis HMR016
Humero-Ulnar Synostosis HMR042
Humero-Ulnar Synostosis, Bilateral HMR037
Humero-Ulnar Synostosis, Unilateral HMR036
Hunter Carpenter Macdonald Syndrome HNT005
Hunter Macpherson Syndrome HNT006
Hunter Mcdonald Syndrome HNT007
Hunter Rudd Hoffmann Syndrome HNT008
Hunter-Macdonald Syndrome HNT018
Hunter-Mcalpine Craniosynostosis Syndrome HNT017
Hunter-Mcalpine Syndrome HNT009
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 HRZ
Hurler Syndrome HRL003 MPS1H
Hurler-Scheie Syndrome HRL004 MPS1H/S
Hurst Hallam Hockey Syndrome HRS012
Hutchinson Incisors HTC001
Hutchinson-Gilford Progeria Syndrome HTC003 HGPS
Hutterite Cerebroosteonephrodysplasia Syndrome HTT002 COND
Hyaline Fibromatosis Syndrome HYL004 HFS
Hyalinosis Systemic Short Stature HYL003
Hyalinosis, Inherited Systemic HYL002
Hyaluronan Metabolism, Defect in HYL006
Hydatidiform Mole, Recurrent, 1 HYD046 HYDM1
Hydatidiform Mole, Recurrent, 2 HYD041 HYDM2
Hydranencephaly HYD001
Hydrarthrosis HYD003
Hydroa Vacciniforme HYD015 HV
Hydroa Vacciniforme, Familial HYD016
Hydroa Vacciniforme-Like Lymphoma HYD045 HVLL
Hydrocele HYD005
Hydrocephalus HYD006
Hydrocephalus Autosomal Recessive HYD017
Hydrocephalus Craniosynostosis Bifid Nose HYD018
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius HYD019 HSAS
Hydrocephalus Growth Retardation Skeletal Anomalies HYD020
Hydrocephalus Obesity Hypogonadism HYD021
Hydrocephalus Skeletal Anomalies HYD022
Hydrocephalus with Associated Malformations HYD053
Hydrocephalus with Cerebellar Agenesis HYD049
Hydrocephalus with Stenosis of the Aqueduct of Sylvius HYD048 HSAS
Hydrocephalus, Autosomal Dominant HYD042
Hydrocephalus, Congenital, 1 HYD064 HYC1
Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies HYD065 HYC2
Hydrocephalus, Congenital, 3, with Brain Anomalies HYD066 HYC3
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts HYD050
Hydrocephalus, Normal-Pressure HYD061 NPH
Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia HYD052
Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis HYD051
Hydrocephalus-Cleft Palate-Joint Contractures Syndrome HYD056
Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia HYD024
Hydrolethalus Syndrome 1 HYD033 HLS1
Hydrolethalus Syndrome 2 HYD040 HLS2
Hydromyelia HYD034
Hydronephrosis HYD002
Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation HYD054
Hydrophthalmos HYD007
Hydrops Ectrodactyly Syndactyly HYD026
Hydrops Fetalis HYD012
Hydrops Fetalis Anemia Immune Disorder Absent Thumb HYD027
Hydrops Fetalis, Nonimmune HYD038 HF
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect HYD059 HFASD
Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features HYD062
Hydrops of Gallbladder HYD004
Hydrops, Lactic Acidosis, and Sideroblastic Anemia HYD058 HLASA
Hydroxyacyl Glutathione Hydrolase Deficiency HYD063
Hydroxycarboxylic Aciduria HYD029
Hydroxykynureninuria HYD030 HYXKY
Hydroxylysinuria HYD055
Hydroxyprolinemia HYD031
Hygroma Cervical HYG001
Hymen, Imperforate HYM002
Hymenolepiasis HYM001
Hyper Ige Syndrome HYP458 HIES
Hyperacusis HYP144
Hyperadrenalism HYP705
Hyperaldosteronism, Familial, Type I HYP731 HALD1
Hyperaldosteronism, Familial, Type Ii HYP600 FH2
Hyperaldosteronism, Familial, Type Iii HYP438 HALD3
Hyperaldosteronism, Familial, Type Iv HYP708 HALD4
Hyperalphalipoproteinemia 1 HYP732 HALP1
Hyperandrogenism HYP043
Hyperandrogenism Due to Cortisone Reductase Deficiency HYP625
Hyperbetaalaninemia HYP145
Hyper-Beta-Alaninemia HYP690
Hyperbilirubinemia, Conjugated, Type Iii HYP764
Hyperbilirubinemia, Rotor Type HYP236 HBLRR
Hyperbilirubinemia, Shunt, Primary HYP765 PSHB
Hyperbilirubinemia, Transient Familial Neonatal HYP766 HBLRTFN
Hyperbiliverdinemia HYP481 HBLVD
Hypercalcemia, Infantile, 1 HYP726 HCINF1
Hypercalcemia, Infantile, 2 HYP712 HCINF2
Hypercalcemic Sarcoidosis HYP019
Hypercalcemic Type Ovarian Small Cell Carcinoma HYP053
Hypercalcinuria Macular Coloboma HYP148
Hypercalciuria, Absorptive, 1 HYP809 HCA1
Hypercalciuria, Absorptive, 2 HYP733 HCA2
Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant HYP276 HCVAD
Hypercarotenemia and Vitamin a Deficiency, Autosomal Recessive HYP796
Hypercementosis HYP021
Hyperchlorhidrosis, Isolated HYP267 HCHLH
Hypercholanemia, Familial HYP279 FHCA
Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency HYP485
Hypercholesterolemia Suppressor HYP735
Hypercholesterolemia, Autosomal Dominant, 3 HYP805 HCHOLA3
Hypercholesterolemia, Autosomal Dominant, Type B HYP734 FDB
Hypercholesterolemia, Autosomal Recessive HYP396 ARH
Hypercholesterolemia, Familial HYP607 FH
Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency HYP642
Hyperekplexia HYP097 STHE
Hyperekplexia 1 HYP699 HKPX1
Hyperekplexia 2 HYP510 HKPX2
Hyperekplexia 3 HYP519 HKPX3
Hyperekplexia 4 HYP825 HKPX4
Hypereosinophilic Syndrome HYP098 HES
Hypereosinophilic Syndrome, Idiopathic HYP810 HES
Hyperferritinemia with or Without Cataract HYP801 HRFTC
Hyperglobulinemic Purpura HYP018
Hyperglycemia HYP066
Hyperglycinemia, Lactic Acidosis, and Seizures HYP719 HGCLAS
Hyperglycinuria HYP348 HG
Hypergonadotropic Hypogonadism and Partial Alopecia HYP685
Hypergonadotropic Ovarian Failure, Familial or Sporadic HYP153
Hyperheparinemia HYP736
Hyperhidrosis Palmaris Et Plantaris HYP560
Hyperhidrosis, Gustatory HYP737 HYPRG
Hyper-Igd Syndrome HYP088 HIDS
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant HYP756 AD-HIES
Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive HYP373 AR-HIES
Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections HYP627
Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections HYP626
Hyperimmunoglobulin G1 Syndrome HYP100
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, 6 HYP807 HHF6
Hyperinsulinemic Hypoglycemia, Familial, 7 HYP349 HHF7
Hyperinsulinism HYP060
Hyperinsulinism Due to Hnf1a Deficiency HYP490
Hyperinsulinism Due to Hnf4a Deficiency HYP479
Hyperinsulinism Due to Ucp2 Deficiency HYP482
Hyperinsulinism, Diffuse HYP158
Hyperinsulinism, Focal HYP159
Hyperkalemic Periodic Paralysis HYP052 HYPP
Hyperkeratosis Lenticularis Perstans HYP160 HLP
Hyperkeratosis-Hyperpigmentation Syndrome HYP468
Hyperleucine-Isoleucinemia HYP240
Hyperlexia HYP767
Hyperlipidemia Type 3 HYP163
Hyperlipidemia, Combined, 1 HYP804 HYPLIP1
Hyperlipidemia, Combined, 2 HYP333 FCHL2
Hyperlipidemia, Familial Combined HYP614 FCHL
Hyperlipoproteinemia, Type I HYP768 LPL DEFICIENCY
Hyperlipoproteinemia, Type Id HYP819 HLPP1D
Hyperlipoproteinemia, Type Ii, and Deafness HYP738
Hyperlipoproteinemia, Type Iii HYP724 CAD
Hyperlipoproteinemia, Type Iv HYP739
Hyperlipoproteinemia, Type V HYP740 HLPP5
Hyperlucent Lung HYP015
Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria HYP770
Hyperlysinemia, Type I HYP769 HYPLYS1
Hyperlysinuria with Hyperammonemia HYP771
Hypermanganesemia with Dystonia HYP821
Hypermanganesemia with Dystonia 1 HYP716 HMNDYT1
Hypermanganesemia with Dystonia 2 HYP713 HMNDYT2
Hypermetabolism Due to Defect in Mitochondria HYP772
Hypermethioninemia HYP003 MET
Hypermethioninemia Due to Adenosine Kinase Deficiency HYP241 HMAKD
Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency HYP814 HMAHCHD
Hypermobile Ehlers-Danlos Syndrome HYP706 HEDS
Hypermobility of Coccyx HYP010
Hypermobility Syndrome HYP007
Hyperopia, High HYP773
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome HYP774 HHH SYNDROME
Hyperostosis HYP068
Hyperostosis Cranialis Interna HYP674 HCIN
Hyperostosis Frontalis Interna HYP364
Hyperoxaluria, Primary, Type I HYP794 HP1
Hyperoxaluria, Primary, Type Ii HYP602 HP2
Hyperoxaluria, Primary, Type Iii HYP603 HP3
Hyperparathyroidism HYP069
Hyperparathyroidism 1 HYP243 HRPT1
Hyperparathyroidism 2 with Jaw Tumors HYP741 HRPT2
Hyperparathyroidism 3 HYP311 HRPT3
Hyperparathyroidism 4 HYP720 HRPT4
Hyperparathyroidism, Neonatal Self-Limited Primary, with Hypercalciuria HYP775
Hyperparathyroidism, Neonatal Severe HYP776 NSHPT
Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia HYP693
Hyperphalangy HYP497
Hyperphalangy, Bilateral HYP501
Hyperphalangy, Unilateral HYP500
Hyperphenylalaninemia HYP141
Hyperphenylalaninemia Due to Dehydratase Deficiency HYP171
Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency HYP822
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, Non-Bh4-Deficient HYP722 HPANBH4
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 6 HYP697 HPMRS6
Hyperphosphatasia-Intellectual Disability Syndrome HYP629
Hyperphosphatemia HYP025
Hyperphosphatemia, Polyuria, and Seizures HYP777
Hyperpigmentation of Eyelids HYP742
Hyperpigmentation of Fuldauer and Kuijpers HYP743
Hyperpigmentation with or Without Hypopigmentation, Familial Progressive HYP744 FPHH
Hyperpigmentation, Familial Progressive, 1 HYP563 FPH
Hyperpituitarism HYP070
Hyperplastic Polyposis Syndrome HYP466
Hyperproglucagonemia HYP282
Hyperproinsulinemia HYP110 HPRI
Hyperprolactinemia HYP020 HPRL
Hyperprolinemia HYP111
Hyperprolinemia, Type I HYP248 HYRPRO1
Hyperprolinemia, Type Ii HYP597 HYRPRO2
Hyperreninemic Hypoaldosteronism, Familial, 2 HYP694 FHHA2
Hyper-Reninism HYP175
Hypersecretion Glaucoma HYP023
Hypersecretion of Adrenal Androgens, Familial HYP746
Hypersensitivity Pneumonitis, Familial HYP692
Hypersensitivity Reaction Type Iii Disease HYP072
Hypersensitivity Reaction Type Iv Disease HYP073
Hypersensitivity Vasculitis HYP074
Hypersomnia HYP263
Hypersplenism HYP063
Hypertaurinuric Cardiomyopathy HYP747
Hypertelorism HYP748
Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes HYP816
Hypertelorism and Tetralogy of Fallot HYP176
Hypertelorism, Microtia, Facial Clefting Syndrome HYP059
Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness HYP561 HPPD
Hypertelorism, Teebi Type HYP682 TBHS
Hypertension and Brachydactyly Syndrome HYP648 HTNB
Hypertension, Diastolic HYP540
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy HYP806 EOHSEP
Hypertension, Essential HYP595 EHT
Hypertension, Essential 1 HYP447 HYT1
Hypertension, Essential 2 HYP448 HYT2
Hypertension, Essential 3 HYP449 HYT3
Hypertension, Essential 4 HYP450 HYT4
Hypertension, Essential 5 HYP451 HYT5
Hypertension, Essential 6 HYP452 HYT6
Hypertension, Essential 7 HYP453 HYT7
Hypertension, Essential 8 HYP454 HYT8
Hypertensive Encephalopathy HYP034
Hypertensive Heart Disease HYP006
Hypertensive Hypokalemia Familial HYP177
Hypertensive Nephropathy HYP114 HNP1
Hypertensive Retinopathy HYP008
Hyperthermia Induced Defects HYP178
Hyperthermia, Cutaneous, with Headaches and Nausea HYP749
Hyperthyroidism HYP076
Hyperthyroidism, Familial Gestational HYP344 HTFG
Hyperthyroidism, Nonautoimmune HYP249 HTNA
Hyperthyroxinemia HYP029
Hyperthyroxinemia, Dystransthyretinemic HYP645 DTTRH
Hyperthyroxinemia, Euthyroid, Caused by Generalized 5-Prime-Deiodinase Deficiency HYP824
Hyperthyroxinemia, Familial Dysalbuminemic HYP677 FDAH
Hypertonia HYP264
Hypertrichosis HYP077
Hypertrichosis Lanuginosa Congenita HYP180 CHL
Hypertrichosis Lanuginosa, Acquired HYP181
Hypertrichosis of Eyelid HYP045
Hypertrichosis Universalis Congenita, Ambras Type HYP351 CGH
Hypertrichosis, Anterior Cervical HYP182
Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy HYP687
Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia HYP728 CGHT
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features HYP183
Hypertriglyceridemia, Familial HYP750 FHTR
Hypertriglyceridemia, Transient Infantile HYP555 HTGTI
Hypertrophia Musculorum Vera HYP751
Hypertrophic Branchial Myopathy HYP184
Hypertrophic Cardiomyopathy HYP061
Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation HYP492
Hypertrophic Cardiomyopathy Due to Intensive Athletic Training HYP486
Hypertrophic Elongation of Cervix HYP033
Hypertrophic Hemangiectasia HYP185
Hypertrophic Neuropathy and Cataract HYP778
Hypertrophic Neuropathy of Dejerine-Sottas HYP186 DSS
Hypertrophic Olivary Degeneration HYP707 HOD
Hypertrophic or Verrucous Lupus Erythematosus HYP503
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant HYP759 PHOAD
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 HYP793 PHOAR1
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 HYP520 PHOAR2
Hypertrophic Pyloric Stenosis HYP009
Hypertrophic Scars HYP457
Hypertrophy of Breast HYP078
Hypertrophy of the Breast, Juvenile HYP678 JHB
Hypertrophy of Tongue Papillae HYP049
Hypertropia HYP047
Hypertryptophanemia HYP187 HYPTRP
Hyperuricemia HYP014
Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase HYP779
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome HYP815 HUPRAS
Hyperuricemic Nephropathy, Familial Juvenile, 1 HYP758 HNFJ1
Hyperuricemic Nephropathy, Familial Juvenile, 2 HYP813 HNFJ2
Hyperuricemic Nephropathy, Familial Juvenile, 3 HYP529 HNFJ3
Hyperuricemic Nephropathy, Familial Juvenile, 4 HYP718 HNFJ4
Hypervitaminosis a HYP058
Hypervitaminosis D HYP057
Hyperzincemia with Functional Zinc Depletion HYP803
Hypnic Headache HYP188
Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome HYP663
Hypoactive Sexual Desire Disorder HYP030
Hypoadrenalism HYP189
Hypoadrenocorticism, Familial HYP780
Hypoaldosteronism HYP120
Hypoalphalipoproteinemia, Primary HYP190 HDLD2
Hypoascorbemia HYP781
Hypobetalipoproteinemia, Familial, 1 HYP818 FHBL1
Hypobetalipoproteinemia, Familial, 2 HYP290 FHBL2
Hypocalcemia, Autosomal Dominant 1 HYP802 HYPOC1
Hypocalcemia, Autosomal Dominant 2 HYP564 HYPOC2
Hypocalcemic Vitamin D-Dependent Rickets HYP636 VDDI
Hypocalcified Amelogenesis Imperfecta HYP644
Hypocalciuric Hypercalcemia, Familial, Type I HYP752 HHC1
Hypocalciuric Hypercalcemia, Familial, Type Ii HYP753 HHC2
Hypocalciuric Hypercalcemia, Familial, Type Iii HYP608 HHC3
Hypochondriasis HYP016
Hypochondrogenesis HYP041
Hypochondroplasia HYP042 HCH
Hypochromic Microcytic Anemia HYP001
Hypochromic Microcytic Anemia with Iron Overload HYP252
Hypocomplementemic Urticarial Vasculitis HYP193
Hypodermyasis HYP194
Hypodermyiasis HYP039
Hypodontia of Incisors and Premolars HYP195
Hypodontia, X-Linked HYP196
Hypofibrinogenemia, Familial HYP197
Hypoganglionosis HYP572
Hypoglossal Nerve Disease HYP028
Hypoglossal Nerve Neoplasm HYP079
Hypoglossia with Situs Inversus HYP727
Hypoglossia-Hypodactylia HYP679
Hypoglycemia HYP056
Hypoglycemia, Leucine-Induced HYP782 LIH
Hypoglycemic Coma HYP026
Hypogonadism HYP080
Hypogonadism Cardiomyopathy HYP199
Hypogonadism Primary Partial Alopecia HYP202
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly HYP783
Hypogonadism, Male HYP784
Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies HYP686
Hypogonadism-Cataract Syndrome HYP683
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome HYP660
Hypogonadotropic Hypogonadism HYP730
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 or Without Anosmia HYP817 HH21
Hypogonadotropic Hypogonadism 22 with or Without Anosmia HYP820 HH22
Hypogonadotropic Hypogonadism 23 Without Anosmia HYP763 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 with or Without Anosmia HYP535 HH7
Hypogonadotropic Hypogonadism 8 with or Without Anosmia HYP514 HH8
Hypogonadotropic Hypogonadism 9 with or Without Anosmia HYP444 HH9
Hypogonadotropic Hypogonadism Without Anosmia, X-Linked HYP204
Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome HYP665
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome HYP667
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome HYP494
Hypogonadotropism HYP064
Hypohidrosis HYP022
Hypohidrosis with Abnormal Palmar Dermal Ridges HYP785
Hypohidrotic Ectodermal Dysplasia Autosomal Recessive HYP206
Hypohidrotic Ectodermal Dysplasia with Immunodeficiency HYP643
Hypoinsulinemic Hypoglycemia with Hemihypertrophy HYP524 HIHGHH
Hypokalemia HYP005
Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy HYP786
Hypokalemic Periodic Paralysis, Type 1 HYP370 HOKPP1
Hypokalemic Periodic Paralysis, Type 2 HYP606 HOKPP2
Hypoketonemic Hypoglycemia HYP209
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 or Without Ocular Involvement HYP827 HOMG5
Hypomagnesemia 6, Renal HYP445 HOMG6
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial HYP800
Hypomagnesemia, Seizures, and Mental Retardation HYP646 HOMGSMR
Hypomandibular Faciocranial Dysostosis HYP212
Hypomelanosis of Ito HYP691 HMI
Hypomelanotic Disorder HYP213
Hypomelia with Mullerian Duct Anomalies HYP689
Hypomyelinating Leukodystrophy HYP700 HLD
Hypomyelinating Leukoencephalopathy HYP659
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity HYP530 HBSL
Hypoparathyroidism HYP024
Hypoparathyroidism, Familial Isolated HYP599 FIH
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease HYP257 HDR
Hypoparathyroidism, X-Linked HYP611 HYPX
Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome HYP696 SSS
Hypoparathyroidism-Retardation-Dysmorphism Syndrome HYP134 HRDS
Hypopharynx Cancer HYP082
Hypophosphatasia HYP035 HPP
Hypophosphatasia, Adult HYP293 HOPS
Hypophosphatasia, Childhood HYP596 HOPSC
Hypophosphatasia, Infantile HYP292 HOPSI
Hypophosphatemia HYP017
Hypophosphatemia, Renal, with Intracerebral Calcifications HYP787
Hypophosphatemic Bone Disease HYP754 HBD
Hypophosphatemic Rickets and Hyperparathyroidism HYP312
Hypophosphatemic Rickets with Hypercalciuria, Hereditary HYP789 HHRH
Hypophosphatemic Rickets, Autosomal Dominant HYP260 ADHR
Hypophosphatemic Rickets, Autosomal Recessive, 1 HYP788 ARHR1
Hypophosphatemic Rickets, Autosomal Recessive, 2 HYP369 ARHR2
Hypophosphatemic Rickets, X-Linked Dominant HYP609 XLHR
Hypophosphatemic Rickets, X-Linked Recessive HYP798 XLRHR
Hypopigmentation of Eyelid HYP046
Hypopituitarism HYP083
Hypopituitarism, Congenital, with Central Diabetes Insipidus HYP790
Hypoplasia of the Mitral Valve Annulus HYP506
Hypoplasia of the Tibia with Polydactyly HYP222
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 Right Heart Syndrome HYP223
Hypoplastic Thumb Mullerian Aplasia HYP224
Hypoplastic Thumbs Hydranencephaly HYP225
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration HYP808 HARP
Hypopyon HYP084
Hypopyon Ulcer HYP062
Hyporeninemic Hypoaldosteronism HYP226
Hyposmia Nasal Hypoplasia Hypogonadism HYP227
Hypospadias HYP040
Hypospadias 1, X-Linked HYP284 HYSP1
Hypospadias 2, X-Linked HYP270 HYSP2
Hypospadias 3, Autosomal HYP545 HYSP3
Hypospadias 4, X-Linked HYP653 HYSP4
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome HYP668
Hypospadias-Mental Retardation Syndrome HYP688
Hypothalamic Adipsic Hypernatraemia Syndrome HYP675
Hypothalamic Disease HYP085
Hypothalamic Hamartomas HYP231
Hypothalamic Hamartomas with Gelastic Seizures HYP504
Hypothalamic Neoplasm HYP002
Hypothyroidism HYP086
Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function HYP488
Hypothyroidism Due to Iodide Transport Defect HYP232
Hypothyroidism, Central, and Testicular Enlargement HYP610 CHTE
Hypothyroidism, Congenital, Nongoitrous, 1 HYP374 CHNG1
Hypothyroidism, Congenital, Nongoitrous, 2 HYP760 CHNG2
Hypothyroidism, Congenital, Nongoitrous, 3 HYP355 RTSH
Hypothyroidism, Congenital, Nongoitrous, 4 HYP795 CHNG4
Hypothyroidism, Congenital, Nongoitrous, 5 HYP762 CHNG5
Hypothyroidism, Congenital, Nongoitrous, 6 HYP562 CHNG6
Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate HYP791 BLS
Hypotonia HYP265
Hypotonia, Ataxia, and Delayed Development Syndrome HYP711 HADDS
Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome HYP823 HADDTS
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response HYP234
Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses HYP797
Hypotonia, Infantile, with Psychomotor Retardation HYP717 IHPMR
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 HYP723 IHPRF1
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 HYP698 IHPRF2
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 HYP714 IHPRF3
Hypotonia, Seizures, and Precocious Puberty HYP812
Hypotonia-Cystinuria Syndrome HYP347 HCS
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome HYP638
Hypotonic Sclerotic Muscular Dystrophy HYP235
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 of Eyelid HYP044
Hypotrichosis Simplex HYP137 HHS
Hypotrichosis Simplex of the Scalp HYP641
Hypotrichosis, Congenital, with Juvenile Macular Dystrophy HYP332 HJMD
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/palate HYP811
Hypotrichosis-Deafness Syndrome HYP489
Hypotrichosis-Intellectual Disability, Lopes Type HYP584
Hypotrichosis-Lymphedema-Telangiectasia Syndrome HYP139 HLTS
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome HYP652 HLTRS
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome HYP499
Hypotropia HYP048
Hypouricemia, Familial Renal, Due to Tubular Hypersecretion HYP799
Hypouricemia, Hypercalcinuria, and Decreased Bone Density HYP792
Hypouricemia, Renal, 1 HYP761 RHUC1
Hypouricemia, Renal, 2 HYP376 RHUC2
Hypoxanthine Guanine Phosphoribosyltransferase Suppressor HYP755
Hypoxia HYP266
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