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