Disease Name Symbol Acronym
Hadziselimovic Syndrome HDZ001
Haemonchiasis HMN005
Haemophilus Influenzae HMP009
Haemophilus Meningitis HMP030
Haim-Munk Syndrome HMM002
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
Hair Morphology 2 HRM021
Hair Whorl HRW001
Hair-an Syndrome HRN019
Hairy Cell Leukemia HRY003
Hairy Ears, Y-Linked HRY009
Hairy Elbows HRY005
Hairy Nose Tip HRY006
Hairy Palms and Soles HRY007
Hairy Tongue HRY002
Hajdu-Cheney Syndrome HJD001 HJCYS
Halal Setton Wang Syndrome HLL006
Halal Syndrome HLL007
Hall-Riggs Mental Retardation Syndrome HLL013
Hall-Riggs Syndrome HLL011
Hallermann-Streiff Syndrome HLL001
Hallermann-Streiff-Like Syndrome HLL012
Hallucinogen Abuse HLL002
Hallucinogen Dependence HLL005
Hallux Varus and Preaxial Polysyndactyly HLL014
Halo Nevi HLN001
Halothane Hepatitis HLT002
Hamamy Syndrome HMM004
Hamanishi Ueba Tsuji Syndrome HMN015
Hamartoma, Precalcaneal Congenital Fibrolipomatous HMR044
Hand and Foot Deformity with Flat Facies HND005
Hand Clasping Pattern HND014
Hand Dermatosis HND001
Hand Skill, Relative HND015
Hand-Foot-Genital Syndrome HND004
Hand, Foot and Mouth Disease HND002
Handigodu Disease HND010
Handigodu Joint Disease HND012
Handl Syndrome HND013
Hanhart Syndrome HNH001
Hansen's Disease HNS001
Hantavirus Pulmonary Syndrome HNT002
Hard Palate Cancer HRD005
Hardikar Syndrome HRD037
Harding Ataxia HRD038
Harel-Yoon Syndrome HRL006
Harlequin Syndrome HRL002
Harrod Doman Keele Syndrome HRR001
Harrod Syndrome HRR005
Hartnup Disorder HRT031
Hartsfield Syndrome HRT030
Hashimoto Thyroiditis HSH003
Hashimoto-Pritzker Syndrome HSH001
Hashimoto's Encephalitis HSH002
Haverhill Fever HVR001
Hawkinsinuria HWK001
Head Injury HDN002
Headache HDC001
Headache Associated with Sexual Activity HDC005
Hearing Loss, Cisplatin-Induced HRN018
Hearing Loss, Noise-Induced HRN029
Heart and Brain Malformation Syndrome HRT037
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
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-Hand Syndrome, Slovenian Type HRT018
Heart-Hand Syndrome, Spanish Type HRT033
Heart, Malformation of HRT038
Heat-Shock Rna 1 HTS002
Heavy Chain Deposition Disease HVY003
Heavy Chain Disease HVY001
Heavy Metal Poisoning HVY002
Heel Spur HLS001
Heimler Syndrome 1 HML047
Heimler Syndrome 2 HML046
Heiner Syndrome HNR001
Heinz Body Anemias HNZ004
Helicobacter Pylori Infection HLC007
Helix Syndrome HLX001
Hellp Syndrome HLL004
Helsmoortel-Van Der Aa Syndrome HLS003
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-Thrombocytopenia Syndrome HMN035
Hemangioma, Capillary Infantile HMN027
Hemangiomas of Small Intestine HMN039
Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe HMN034
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
Heme Oxygenase 1 Deficiency HMX003
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
Hemifacial Hyperplasia HMF009
Hemifacial Hyperplasia with Strabismus HMF007
Hemifacial Microsomia HMF006
Hemifacial Microsomia with Radial Defects HMF010
Hemifacial Myohyperplasia HMF003
Hemifacial Spasm HMF004
Hemifacial Spasm, Familial HMF011
Hemihyperplasia-Multiple Lipomatosis Syndrome HMH003
Hemihyperplasia, Isolated HMH004
Hemimegalencephaly HMM003
Hemiparkinsonism-Hemiatrophy Syndrome HMP027
Hemiplegia HMP005
Hemiplegia Alterans HMP020
Hemiplegic Migraine HMP006
Hemochromatosis Type 2 HMC009
Hemochromatosis, Neonatal HMC038
Hemochromatosis, Type 1 HMC039
Hemochromatosis, Type 2a HMC021
Hemochromatosis, Type 2b HMC019
Hemochromatosis, Type 3 HMC010
Hemochromatosis, Type 4 HMC035
Hemochromatosis, Type 5 HMC034
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
Hemoglobin Lepore-Beta-Thalassemia Syndrome HMG028
Hemoglobin Se Disease HMG029
Hemoglobin Zurich HMG009
Hemoglobin--Variants for Which the Chain Carrying the Mutation is Unknown or Uncertain HMG030
Hemoglobin, High Altitude Adaptation HMG031
Hemoglobinemia HMG010
Hemoglobinopathy HMG005
Hemoglobinopathy Toms River HMG024
Hemoglobinuria HMG002
Hemolytic Anemia HML002
Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction HML041
Hemolytic Anemia Due to Glutathione Reductase Deficiency HML010
Hemolytic Anemia Due to Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency HML038
Hemolytic Anemia with Thermal Sensitivity of Red Cells HML051
Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy HML042
Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities HML049
Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency HML021
Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency HML052
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
Hemolytic Uremic Syndrome, Atypical 2 HML035
Hemolytic Uremic Syndrome, Atypical 3 HML034
Hemolytic Uremic Syndrome, Atypical 4 HML032
Hemolytic Uremic Syndrome, Atypical 5 HML037
Hemolytic Uremic Syndrome, Atypical 6 HML036
Hemolytic Uremic Syndrome, Atypical, Childhood HML017
Hemolytic-Uremic Syndrome HML001
Hemometra HMM001
Hemopericardium HMP001
Hemophagocytic Lymphohistiocytosis HMP002
Hemophagocytic Lymphohistiocytosis, Familial, 1 HMP022
Hemophagocytic Lymphohistiocytosis, Familial, 2 HMP012
Hemophagocytic Lymphohistiocytosis, Familial, 3 HMP013
Hemophagocytic Lymphohistiocytosis, Familial, 4 HMP014
Hemophagocytic Lymphohistiocytosis, Familial, 5 HMP023
Hemophagocytic Reticulosis HMP015
Hemophagocytic Syndrome Associated with an Infection HMP028
Hemophilia HMP007
Hemophilia a HMP029
Hemophilia a with Vascular Abnormality HMP031
Hemophilia B HMP004
Hemophilic Arthropathy HMP018
Hemopneumothorax HMP003
Hemopoietic Proliferation HMP032
Hemorrhage, Intracerebral HMR039
Hemorrhagic Cystitis HMR023
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts HMR018
Hemorrhagic Disease HMR003
Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation HMR041
Hemorrhagic Fever HMR012
Hemorrhagic Fever with Renal Syndrome HMR004
Hemorrhagic Proctocolitis HMR013
Hemorrhagic Shock and Encephalopathy Syndrome HMR014
Hemorrhoid HMR005
Hemosiderosis HMS001
Hemosiderosis, Pulmonary, with Deficiency of Gamma-a Globulin HMS004
Hendra Virus Infection HND011
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 HNN005
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 HNN004
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
Heparin-Induced Thrombocytopenia HPR003
Hepatic Adenomas, Familial HPT082
Hepatic Angiomyolipoma HPT006
Hepatic Coma HPT004
Hepatic Cystic Hamartoma HPT028
Hepatic Encephalopathy HPT019
Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection HPT084
Hepatic Flexure Cancer HPT005
Hepatic Infarction HPT081
Hepatic Lipase Deficiency HPT025
Hepatic Osteogenic Sarcoma HPT017
Hepatic Tuberculosis HPT008
Hepatic Vascular Disease HPT020
Hepatic Veno-Occlusive Disease HPT046
Hepatic Venoocclusive Disease with Immunodeficiency HPT077
Hepatitis HPT021
Hepatitis a HPT003
Hepatitis B HPT016
Hepatitis B Reinfection Following Liver Transplantation HPT075
Hepatitis B Vaccine, Response to HPT083
Hepatitis C HPT001
Hepatitis C Virus HPT073
Hepatitis D HPT015
Hepatitis E HPT007
Hepatoblastoma HPT022
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
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
Hereditary Central Diabetes Insipidus HRD156
Hereditary Cerebral Amyloid Angiopathy HRD084
Hereditary Choroidal Atrophy HRD019
Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors HRD160
Hereditary Congenital Facial Paresis HRD043
Hereditary Conventional Renal Cell Carcinoma HRD003
Hereditary Dystonia HRD198
Hereditary Elliptocytosis HRD012
Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke HRD044
Hereditary Geniospasm HRD194
Hereditary Hearing Loss and Deafness HRD199
Hereditary Hemorrhagic Telangiectasia HRD008
Hereditary Hypercarotenemia and Vitamin a Deficiency HRD143
Hereditary Hyperuricemia HRD048
Hereditary Hypophosphatemic Rickets HRD086
Hereditary Inclusion Body Myopathy Type 4 HRD119
Hereditary Late-Onset Parkinson Disease HRD173
Hereditary Leiomyomatosis and Renal Cell Cancer HRD029
Hereditary Lymphedema HRD007
Hereditary Methemoglobinemia HRD146
Hereditary Mixed Polyposis Syndrome HRD144
Hereditary Motor and Sensory Neuropathy V HRD138
Hereditary Motor and Sensory Neuropathy with Acrodystrophy HRD175
Hereditary Motor and Sensory Neuropathy, Type Iic HRD094
Hereditary Multiple Exostoses HRD001
Hereditary Multiple Osteochondromas HRD104
Hereditary Myopathy with Early Respiratory Failure HRD073
Hereditary Myopathy with Intranuclear Filamentous HRD053
Hereditary Neuroendocrine Tumor of Small Intestine HRD181
Hereditary Neuropathies HRD088
Hereditary Neuropathy with Liability to Pressure Palsy HRD054
Hereditary Night Blindness HRD015
Hereditary Nodular Heterotopia HRD055
Hereditary Orotic Aciduria Without Megaloblastic Anaemia HRD056
Hereditary Paraganglioma-Pheochromocytoma Syndromes HRD031
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
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
Hereditary Sensory and Autonomic Neuropathy with Deafness and Global Delay HRD108
Hereditary Sensory Neuropathy HRD021
Hereditary Site-Specific Ovarian Cancer Syndrome HRD114
Hereditary Spastic Paraplegia HRD010
Hereditary Spastic Paraplegia 51 HRD186
Hereditary Spastic Paraplegia 72 HRD188
Hereditary Spherocytosis HRD011
Hereditary Thrombocytopenia with Normal Platelets HRD112
Hereditary Type 1 Neuropathy HRD062
Hereditary Type 2 Neuropathy HRD063
Hereditary Vascular Retinopathy HRD064
Hereditary Wilms' Tumor HRD009
Hereditary Xanthinuria HRD142
Heritable Pulmonary Arterial Hypertension HRT015
Heritable Thoracic Aortic Disease HRT036
Hermansky-Pudlak Syndrome HRM001
Hermansky-Pudlak Syndrome 1 HRM005
Hermansky-Pudlak Syndrome 10 HRM020
Hermansky-Pudlak Syndrome 2 HRM017
Hermansky-Pudlak Syndrome 3 HRM006
Hermansky-Pudlak Syndrome 4 HRM007
Hermansky-Pudlak Syndrome 5 HRM008
Hermansky-Pudlak Syndrome 6 HRM009
Hermansky-Pudlak Syndrome 7 HRM010
Hermansky-Pudlak Syndrome 8 HRM011
Hermansky-Pudlak Syndrome 9 HRM012
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
Herpes Simplex Virus Keratitis HRP025
Herpes Virus Antenatal Infection HRP010
Herpes Zoster HRP004
Herpes Zoster Ophthalmicus HRP011
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
Heterotaxy, Visceral, 1, X-Linked HTR014
Heterotaxy, Visceral, 2, Autosomal HTR009
Heterotaxy, Visceral, 3, Autosomal HTR012
Heterotaxy, Visceral, 4, Autosomal HTR010
Heterotaxy, Visceral, 5, Autosomal HTR021
Heterotaxy, Visceral, 6, Autosomal HTR023
Heterotaxy, Visceral, 7, Autosomal HTR018
Heterotaxy, Visceral, 8, Autosomal HTR020
Heterotopia, Periventricular, Associated with Chromosome 5p Anomalies HTR022
Hexosaminidase C HXS001
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
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
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 Cholangiocellular Carcinoma HLR004
Hilar Lung Neoplasm HLR001
Hillig Syndrome HLL009
Hing Torack Dowston Syndrome HNG001
Hinman Syndrome HNM002
Hip Luxation HPL001
Hip Subluxation HPS001
Hirschsprung Disease 1 HRS035
Hirschsprung Disease 2 HRS036
Hirschsprung Disease 3 HRS034
Hirschsprung Disease 4 HRS029
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 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
Hirschsprung Microcephaly Cleft Palate HRS008
Hirschsprung Nail Hypoplasia Dysmorphism HRS009
Hirsutism, Skeletal Dysplasia, and Mental Retardation HRS040
His Bundle Tachycardia HSB001
Histidine Metabolism Disease HST007
Histidinemia HST006
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
Histiocytosis HST010
Histiocytosis-Lymphadenopathy Plus Syndrome HST017
Histiocytosis, Familial Lipochrome HST021
Histiocytosis, Progressive Mucinous HST018
Histoplasmosis HST011
Histoplasmosis Meningitis HST005
Histoplasmosis Pericarditis HST003
Histoplasmosis Retinitis HST002
Histrionic Personality Disorder HST001
Hiv-Associated Cancer HVS002
Hivep2-Related Intellectual Disability HVP001
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
Hodgkin's Lymphoma, Nodular Sclerosis HDG001
Hodgkin's Paragranuloma HDG006
Hole Retinal Cyst HLR003
Holmes Borden Syndrome HLM002
Holoacardius Amorphus HLC002
Holocarboxylase Synthetase Deficiency HLC001
Holoprosencephaly HLP001
Holoprosencephaly 1 HLP023
Holoprosencephaly 11 HLP016
Holoprosencephaly 2 HLP024
Holoprosencephaly 3 HLP026
Holoprosencephaly 4 HLP029
Holoprosencephaly 5 HLP028
Holoprosencephaly 6 HLP021
Holoprosencephaly 7 HLP027
Holoprosencephaly 8 HLP022
Holoprosencephaly 9 HLP025
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
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
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
Homocystinuria Without Methylmalonic Aciduria HMC036
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type HMC042
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type HMC033
Homologous Wasting Disease HML018
Homosexuality 1 HMS005
Homozygous 11p15-P14 Deletion Syndrome HMZ004
Homozygous Familial Hypercholesterolemia HMZ003
Honey-Droplet Corneal Dystrophy HNY001
Hooft Disease HFT001
Hoon Hall Syndrome HNH002
Hordeolum HRD022
Hordeolum Externum HRD017
Hordnes Engebretsen Knudtson Syndrome HRD065
Horizontal Gaze Palsy with Progressive Scoliosis HRZ002
Hormone Producing Pituitary Cancer HRM003
Horned Turban Snail Allergy HRN023
Horner Syndrome, Congenital HRN024
Horner's Syndrome HRN001
Horns in Sheep HRN028
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
Hsd10 Mitochondrial Disease HSD004
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
Human Herpesvirus 8 HMN032
Human Herpesvirus Type 6, Integrated HMN043
Human Immunodeficiency Virus Infectious Disease HMN014
Human Immunodeficiency Virus Type 1 HMN044
Human Infection by Orthopoxvirus HMN033
Human Monocytic Ehrlichiosis HMN001
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
Humero-Radial Synostosis, Bilateral HMR033
Humero-Radial Synostosis, Unilateral HMR032
Humero-Radio-Ulnar Synostosis, Bilateral HMR035
Humero-Radio-Ulnar Synostosis, Unilateral HMR034
Humero-Ulnar Synostosis HMR042
Humero-Ulnar Synostosis, Bilateral HMR037
Humero-Ulnar Synostosis, Unilateral HMR036
Humeroradial Synostosis HMR015
Humeroradial Synostosis with Craniofacial Anomalies HMR043
Humeroradioulnar Synostosis HMR016
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
Huntington Disease-Like 1 HNT010
Huntington Disease-Like 2 HNT004
Huntington Disease-Like 3 HNT011
Huntington Disease-Like Syndrome HNT013
Huntington Disease-Like Syndrome Due to C9orf72 Expansions HNT014
Huriez Syndrome HRZ001
Hurler Syndrome HRL003
Hurler-Scheie Syndrome HRL004
Hurst Hallam Hockey Syndrome HRS012
Hutchinson Incisors HTC001
Hutchinson-Gilford Progeria Syndrome HTC003
Hutterite Cerebroosteonephrodysplasia Syndrome HTT002
Hyaline Fibromatosis Syndrome HYL004
Hyalinosis Systemic Short Stature HYL003
Hyalinosis, Inherited Systemic HYL002
Hyaluronan Metabolism, Defect in HYL006
Hydatidiform Mole, Recurrent, 1 HYD046
Hydatidiform Mole, Recurrent, 2 HYD041
Hydranencephaly HYD001
Hydrarthrosis HYD003
Hydroa Vacciniforme HYD015
Hydroa Vacciniforme-Like Lymphoma HYD045
Hydroa Vacciniforme, Familial HYD016
Hydrocele HYD005
Hydrocephalus HYD006
Hydrocephalus Autosomal Recessive HYD017
Hydrocephalus Craniosynostosis Bifid Nose HYD018
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius HYD019
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
Hydrocephalus-Cleft Palate-Joint Contractures Syndrome HYD056
Hydrocephalus, Autosomal Dominant HYD042
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts HYD050
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 HYD060
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 HYD043
Hydrocephalus, Normal-Pressure HYD061
Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia HYD052
Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis HYD051
Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia HYD024
Hydrolethalus Syndrome 1 HYD033
Hydrolethalus Syndrome 2 HYD040
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
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect HYD059
Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features HYD062
Hydrops of Gallbladder HYD004
Hydrops, Lactic Acidosis, and Sideroblastic Anemia HYD058
Hydroxyacyl Glutathione Hydrolase Deficiency HYD063
Hydroxycarboxylic Aciduria HYD029
Hydroxykynureninuria HYD030
Hydroxylysinuria HYD055
Hydroxyprolinemia HYD031
Hygroma Cervical HYG001
Hymen, Imperforate HYM002
Hymenolepiasis HYM001
Hyper Ige Syndrome HYP458
Hyper-Beta-Alaninemia HYP690
Hyper-Igd Syndrome HYP088
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant HYP756
Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive HYP373
Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections HYP627
Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections HYP626
Hyper-Reninism HYP175
Hyperacusis HYP144
Hyperaldosteronism, Familial, Type I HYP731 HALD1
Hyperaldosteronism, Familial, Type Ii HYP600
Hyperaldosteronism, Familial, Type Iii HYP438
Hyperaldosteronism, Familial, Type Iv HYP708
Hyperalphalipoproteinemia 1 HYP732
Hyperandrogenism HYP043
Hyperandrogenism Due to Cortisone Reductase Deficiency HYP625
Hyperbetaalaninemia HYP145
Hyperbilirubinemia, Conjugated, Type Iii HYP764
Hyperbilirubinemia, Rotor Type HYP236
Hyperbilirubinemia, Shunt, Primary HYP765
Hyperbilirubinemia, Transient Familial Neonatal HYP766
Hyperbiliverdinemia HYP481
Hypercalcemia, Infantile, 1 HYP726
Hypercalcemia, Infantile, 2 HYP712
Hypercalcemic Sarcoidosis HYP019
Hypercalcemic Type Ovarian Small Cell Carcinoma HYP053
Hypercalcinuria Macular Coloboma HYP148
Hypercalciuria, Absorptive, 1 HYP809
Hypercalciuria, Absorptive, 2 HYP733
Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant HYP276 ADHVAD
Hypercarotenemia and Vitamin a Deficiency, Autosomal Recessive HYP796
Hypercementosis HYP021
Hyperchlorhidrosis, Isolated HYP267
Hypercholanemia, Familial HYP279
Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency HYP485
Hypercholesterolemia Suppressor HYP735
Hypercholesterolemia, Autosomal Dominant, 3 HYP805
Hypercholesterolemia, Autosomal Dominant, Type B HYP734
Hypercholesterolemia, Autosomal Recessive HYP396
Hypercholesterolemia, Familial HYP607
Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency HYP642
Hyperekplexia HYP097
Hyperekplexia 1 HYP699
Hyperekplexia 2 HYP510
Hyperekplexia 3 HYP519
Hyperekplexia 4 HYP825
Hypereosinophilic Syndrome HYP098
Hypereosinophilic Syndrome, Idiopathic HYP810
Hyperferritinemia with or Without Cataract HYP801
Hyperglobulinemic Purpura HYP018
Hyperglycemia HYP066
Hyperglycinemia, Lactic Acidosis, and Seizures HYP719
Hyperglycinuria HYP348
Hypergonadotropic Hypogonadism and Partial Alopecia HYP685
Hypergonadotropic Ovarian Failure, Familial or Sporadic HYP153
Hyperheparinemia HYP736
Hyperhidrosis Palmaris Et Plantaris HYP560
Hyperhidrosis, Gustatory HYP737
Hyperimmunoglobulin G1 Syndrome HYP100
Hyperimmunoglobulin Syndrome HYP067
Hyperinsulinemic Hypoglycemia HYP050
Hyperinsulinemic Hypoglycemia, Familial, 1 HYP304
Hyperinsulinemic Hypoglycemia, Familial, 2 HYP604
Hyperinsulinemic Hypoglycemia, Familial, 3 HYP601
Hyperinsulinemic Hypoglycemia, Familial, 4 HYP271
Hyperinsulinemic Hypoglycemia, Familial, 5 HYP326
Hyperinsulinemic Hypoglycemia, Familial, 6 HYP807
Hyperinsulinemic Hypoglycemia, Familial, 7 HYP349
Hyperinsulinism HYP060
Hyperinsulinism Due to Glucokinase Deficiency HYP156
Hyperinsulinism Due to Glutamodehydrogenase Deficiency HYP157
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, Diffuse HYP158
Hyperinsulinism, Focal HYP159
Hyperkalemic Periodic Paralysis HYP052
Hyperkeratosis Lenticularis Perstans HYP160
Hyperkeratosis-Hyperpigmentation Syndrome HYP468
Hyperleucine-Isoleucinemia HYP240
Hyperlexia HYP767
Hyperlipidemia Type 3 HYP163
Hyperlipidemia, Combined, 1 HYP804
Hyperlipidemia, Combined, 2 HYP333
Hyperlipidemia, Familial Combined HYP614
Hyperlipoproteinemia, Type I HYP768
Hyperlipoproteinemia, Type Id HYP819
Hyperlipoproteinemia, Type Ii, and Deafness HYP738
Hyperlipoproteinemia, Type Iii HYP724
Hyperlipoproteinemia, Type Iv HYP739
Hyperlipoproteinemia, Type V HYP740
Hyperlucent Lung HYP015
Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria HYP770
Hyperlysinemia, Type I HYP769
Hyperlysinuria with Hyperammonemia HYP771
Hypermanganesemia with Dystonia HYP821
Hypermanganesemia with Dystonia 1 HYP716
Hypermanganesemia with Dystonia 2 HYP713
Hypermetabolism Due to Defect in Mitochondria HYP772
Hypermethioninemia HYP003
Hypermethioninemia Due to Adenosine Kinase Deficiency HYP241
Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency HYP814
Hypermobile Ehlers-Danlos Syndrome HYP706
Hypermobility of Coccyx HYP010
Hypermobility Syndrome HYP007
Hyperopia, High HYP773
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome HYP774
Hyperostosis HYP068
Hyperostosis Cranialis Interna HYP674
Hyperostosis Frontalis Interna HYP364
Hyperoxaluria, Primary, Type I HYP794
Hyperoxaluria, Primary, Type Ii HYP602
Hyperoxaluria, Primary, Type Iii HYP603
Hyperparathyroidism HYP069
Hyperparathyroidism 1 HYP243
Hyperparathyroidism 2 with Jaw Tumors HYP741
Hyperparathyroidism 3 HYP311
Hyperparathyroidism 4 HYP720
Hyperparathyroidism, Neonatal Self-Limited Primary, with Hypercalciuria HYP775
Hyperparathyroidism, Neonatal Severe HYP776
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 Dnajc12 Deficiency HYP826
Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency HYP822
Hyperphenylalaninemia, Bh4-Deficient, a HYP331
Hyperphenylalaninemia, Bh4-Deficient, B HYP605
Hyperphenylalaninemia, Bh4-Deficient, C HYP368
Hyperphenylalaninemia, Bh4-Deficient, D HYP365
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient HYP722
Hyperphosphatasia with Mental Retardation Syndrome 1 HYP441
Hyperphosphatasia with Mental Retardation Syndrome 2 HYP442
Hyperphosphatasia with Mental Retardation Syndrome 3 HYP553
Hyperphosphatasia with Mental Retardation Syndrome 4 HYP580
Hyperphosphatasia with Mental Retardation Syndrome 6 HYP697
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
Hyperpigmentation, Familial Progressive, 1 HYP563
Hyperpituitarism HYP070
Hyperplastic Polyposis Syndrome HYP466
Hyperproglucagonemia HYP282
Hyperproinsulinemia HYP110
Hyperprolactinemia HYP020
Hyperprolinemia HYP111
Hyperprolinemia, Type I HYP248
Hyperprolinemia, Type Ii HYP597
Hyperreninemic Hypoaldosteronism, Familial, 2 HYP694
Hypersecretion Glaucoma HYP023
Hypersecretion of Adrenal Androgens, Familial HYP746
Hypersensitivity Pneumonitis, Familial HYP692
Hypersensitivity Reaction Disease HYP729
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
Hypertelorism, Teebi Type HYP682
Hypertension and Brachydactyly Syndrome HYP648 HTNB
Hypertension, Diastolic HYP540
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy HYP806
Hypertension, Essential HYP595
Hypertension, Essential 1 HYP447
Hypertension, Essential 2 HYP448
Hypertension, Essential 3 HYP449
Hypertension, Essential 4 HYP450
Hypertension, Essential 5 HYP451
Hypertension, Essential 6 HYP452
Hypertension, Essential 7 HYP453
Hypertension, Essential 8 HYP454
Hypertensive Encephalopathy HYP034
Hypertensive Heart Disease HYP006
Hypertensive Hypokalemia Familial HYP177
Hypertensive Nephropathy HYP114
Hypertensive Retinopathy HYP008
Hyperthermia Induced Defects HYP178
Hyperthermia, Cutaneous, with Headaches and Nausea HYP749
Hyperthyroidism HYP076
Hyperthyroidism, Familial Gestational HYP344
Hyperthyroidism, Nonautoimmune HYP249
Hyperthyroxinemia HYP029
Hyperthyroxinemia, Dystransthyretinemic HYP645
Hyperthyroxinemia, Euthyroid, Caused by Generalized 5-Prime-Deiodinase Deficiency HYP824
Hyperthyroxinemia, Familial Dysalbuminemic HYP677
Hypertonia HYP264
Hypertrichosis HYP077
Hypertrichosis Lanuginosa Congenita HYP180
Hypertrichosis Lanuginosa, Acquired HYP181
Hypertrichosis of Eyelid HYP045
Hypertrichosis Universalis Congenita, Ambras Type HYP351
Hypertrichosis, Anterior Cervical HYP182
Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy HYP687
Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia HYP728
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features HYP183
Hypertriglyceridemia, Familial HYP750
Hypertriglyceridemia, Transient Infantile HYP555
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
Hypertrophic Olivary Degeneration HYP707
Hypertrophic or Verrucous Lupus Erythematosus HYP503
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant HYP759
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 HYP793
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 HYP520
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
Hyperuricemia HYP014
Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase HYP779
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome HYP815
Hyperuricemic Nephropathy, Familial Juvenile, 1 HYP758
Hyperuricemic Nephropathy, Familial Juvenile, 2 HYP813
Hyperuricemic Nephropathy, Familial Juvenile, 3 HYP529
Hyperuricemic Nephropathy, Familial Juvenile, 4 HYP718
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
Hypoascorbemia HYP781
Hypobetalipoproteinemia, Familial, 1 HYP818
Hypobetalipoproteinemia, Familial, 2 HYP290
Hypocalcemia, Autosomal Dominant 1 HYP802
Hypocalcemia, Autosomal Dominant 2 HYP564
Hypocalcemic Vitamin D-Dependent Rickets HYP636
Hypocalcified Amelogenesis Imperfecta HYP644
Hypocalciuric Hypercalcemia, Familial, Type I HYP752
Hypocalciuric Hypercalcemia, Familial, Type Ii HYP753
Hypocalciuric Hypercalcemia, Familial, Type Iii HYP608
Hypochondriasis HYP016
Hypochondrogenesis HYP041
Hypochondroplasia HYP042
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
Hypoglycemic Coma HYP026
Hypogonadism HYP080
Hypogonadism Cardiomyopathy HYP199
Hypogonadism Primary Partial Alopecia HYP202
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly HYP783
Hypogonadism-Cataract Syndrome HYP683
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome HYP660
Hypogonadism, Male HYP784
Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies HYP686
Hypogonadotropic Hypogonadism HYP730
Hypogonadotropic Hypogonadism 1 with or Without Anosmia HYP513
Hypogonadotropic Hypogonadism 10 with or Without Anosmia HYP521
Hypogonadotropic Hypogonadism 11 with or Without Anosmia HYP522
Hypogonadotropic Hypogonadism 12 with or Without Anosmia HYP547
Hypogonadotropic Hypogonadism 13 with or Without Anosmia HYP443
Hypogonadotropic Hypogonadism 14 with or Without Anosmia HYP523
Hypogonadotropic Hypogonadism 15 with or Without Anosmia HYP511
Hypogonadotropic Hypogonadism 16 with or Without Anosmia HYP518
Hypogonadotropic Hypogonadism 17 with or Without Anosmia HYP538
Hypogonadotropic Hypogonadism 18 with or Without Anosmia HYP532
Hypogonadotropic Hypogonadism 19 with or Without Anosmia HYP557
Hypogonadotropic Hypogonadism 2 with or Without Anosmia HYP548
Hypogonadotropic Hypogonadism 20 with or Without Anosmia HYP546
Hypogonadotropic Hypogonadism 21 with or Without Anosmia HYP817
Hypogonadotropic Hypogonadism 22 with or Without Anosmia HYP820
Hypogonadotropic Hypogonadism 23 Without Anosmia HYP763
Hypogonadotropic Hypogonadism 24 Without Anosmia HYP647
Hypogonadotropic Hypogonadism 3 with or Without Anosmia HYP565
Hypogonadotropic Hypogonadism 4 with or Without Anosmia HYP531
Hypogonadotropic Hypogonadism 5 with or Without Anosmia HYP549
Hypogonadotropic Hypogonadism 6 with or Without Anosmia HYP552
Hypogonadotropic Hypogonadism 7 with or Without Anosmia HYP535
Hypogonadotropic Hypogonadism 8 with or Without Anosmia HYP514
Hypogonadotropic Hypogonadism 9 with or Without Anosmia HYP444
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
Hypokalemia HYP005
Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy HYP786
Hypokalemic Periodic Paralysis, Type 1 HYP370
Hypokalemic Periodic Paralysis, Type 2 HYP606
Hypoketonemic Hypoglycemia HYP209
Hypolipoproteinemia HYP081
Hypomagnesemia 1, Intestinal HYP550
Hypomagnesemia 2, Renal HYP210
Hypomagnesemia 3, Renal HYP534
Hypomagnesemia 4, Renal HYP302
Hypomagnesemia 5, Renal, with Ocular Involvement HYP527
Hypomagnesemia 6, Renal HYP445
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial HYP800
Hypomagnesemia, Seizures, and Mental Retardation HYP646
Hypomandibular Faciocranial Dysostosis HYP212
Hypomelanosis of Ito HYP691
Hypomelanotic Disorder HYP213
Hypomelia with Mullerian Duct Anomalies HYP689
Hypomyelinating Leukodystrophy HYP700
Hypomyelinating Leukoencephalopathy HYP659
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity HYP530
Hypoparathyroidism HYP024
Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome HYP696
Hypoparathyroidism-Retardation-Dysmorphism Syndrome HYP134
Hypoparathyroidism, Familial Isolated HYP599
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease HYP257
Hypoparathyroidism, X-Linked HYP611
Hypopharynx Cancer HYP082
Hypophosphatasia HYP035
Hypophosphatasia, Adult HYP293
Hypophosphatasia, Childhood HYP596
Hypophosphatasia, Infantile HYP292
Hypophosphatemia HYP017
Hypophosphatemia, Renal, with Intracerebral Calcifications HYP787
Hypophosphatemic Bone Disease HYP754
Hypophosphatemic Rickets and Hyperparathyroidism HYP312
Hypophosphatemic Rickets with Hypercalciuria, Hereditary HYP789
Hypophosphatemic Rickets, Autosomal Dominant HYP260
Hypophosphatemic Rickets, Autosomal Recessive, 1 HYP788
Hypophosphatemic Rickets, Autosomal Recessive, 2 HYP369
Hypophosphatemic Rickets, X-Linked Dominant HYP609
Hypophosphatemic Rickets, X-Linked Recessive HYP798
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
Hypoplastic Left Heart Syndrome 1 HYP543
Hypoplastic Left Heart Syndrome 2 HYP517
Hypoplastic Right Heart Syndrome HYP223
Hypoplastic Thumb Mullerian Aplasia HYP224
Hypoplastic Thumbs Hydranencephaly HYP225
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration HYP808
Hypopyon HYP084
Hypopyon Ulcer HYP062
Hyporeninemic Hypoaldosteronism HYP226
Hyposmia Nasal Hypoplasia Hypogonadism HYP227
Hypospadias HYP040
Hypospadias 1, X-Linked HYP284
Hypospadias 2, X-Linked HYP270
Hypospadias 3, Autosomal HYP545
Hypospadias 4, X-Linked HYP653
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
Hypothyroidism, Congenital, Nongoitrous, 1 HYP374
Hypothyroidism, Congenital, Nongoitrous, 2 HYP760
Hypothyroidism, Congenital, Nongoitrous, 3 HYP355
Hypothyroidism, Congenital, Nongoitrous, 4 HYP795
Hypothyroidism, Congenital, Nongoitrous, 5 HYP762
Hypothyroidism, Congenital, Nongoitrous, 6 HYP562
Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate HYP791
Hypotonia HYP265
Hypotonia-Cystinuria Syndrome HYP347
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome HYP638
Hypotonia, Ataxia, and Delayed Development Syndrome HYP711
Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome HYP823
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
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 HYP723
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 HYP698
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 HYP714
Hypotonia, Seizures, and Precocious Puberty HYP812
Hypotonic Sclerotic Muscular Dystrophy HYP235
Hypotrichosis HYP087
Hypotrichosis 1 HYP507
Hypotrichosis 10 HYP544
Hypotrichosis 11 HYP528
Hypotrichosis 12 HYP578
Hypotrichosis 13 HYP577
Hypotrichosis 2 HYP525
Hypotrichosis 3 HYP515
Hypotrichosis 4 HYP576
Hypotrichosis 5 HYP573
Hypotrichosis 6 HYP581
Hypotrichosis 7 HYP575
Hypotrichosis 8 HYP559
Hypotrichosis 9 HYP551
Hypotrichosis and Recurrent Skin Vesicles HYP346
Hypotrichosis of Eyelid HYP044
Hypotrichosis Simplex HYP137
Hypotrichosis Simplex of the Scalp HYP641
Hypotrichosis-Deafness Syndrome HYP489
Hypotrichosis-Intellectual Disability, Lopes Type HYP584
Hypotrichosis-Lymphedema-Telangiectasia Syndrome HYP139
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome HYP652
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome HYP499
Hypotrichosis, Congenital, with Juvenile Macular Dystrophy HYP332
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/palate HYP811
Hypotropia HYP048
Hypouricemia, Familial Renal, Due to Tubular Hypersecretion HYP799
Hypouricemia, Hypercalcinuria, and Decreased Bone Density HYP792
Hypouricemia, Renal, 1 HYP761
Hypouricemia, Renal, 2 HYP376
Hypoxanthine Guanine Phosphoribosyltransferase Suppressor HYP755
Hypoxia HYP266
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