| 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
|
|
