| Diseases |
Alias |
|
| Epilepsy, Pyridoxine-Dependent |
|
Pyridoxine-Dependent Epilepsy
|
PDE
|
|
Pyridoxine Dependency With Seizures
|
Vitamin B6-Dependent Seizures
|
|
EPD
|
Aasa Dehydrogenase Deficiency
|
|
Antiquitin Deficiency
|
Pyridoxine Dependency
|
|
Glutamate Decarboxylase Deficiency
|
Pyridoxine-Dependent Seizures
|
|
Deficiency Of Glutamate Decarboxylase
|
|
|
| Hydrocephalus, Congenital, 1 |
|
Hydrocephaly
|
Ventriculomegaly
|
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
|
HYC1
|
|
Congenital Non-Communicating Hydrocephalus
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly
|
|
Congenital Obstructive Hydrocephalus
|
Hydrocephalus, Non-Syndromic, Autosomal Recessive 1
|
|
Hydrocephalus
|
|
|
| Developmental And Epileptic Encephalopathy 13 |
|
Epileptic Encephalopathy, Early Infantile, 13
|
DEE13
|
|
Eiee13
|
Developmental And Epileptic Encephalopathy, 13
|
|
Early Infantile Epileptic Encephalopathy 13
|
Scn8a Encephalopathy
|
|
Early Infantile Epileptic Encephalopathy-13
|
Scn8a Epilepsy
|
|
Encephalopathy, Developmental And Epileptic, Type 13
|
|
|
| Epilepsy |
|
Epilepsy Syndrome
|
Epileptic Syndrome
|
|
Epilepsies
|
Symptomatic Epilepsies
|
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
|
Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
|
Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Pnpo Deficiency
|
Pyridoxamine 5'-Phosphate Oxidase Deficiency
|
|
Pnpo-Related Neonatal Epileptic Encephalopathy
|
Pyridoxal Phosphate-Responsive Seizures
|
|
Pyridoxal 5'-Phosphate-Dependent Epilepsy
|
Pyridoxine-5'-Phosphate Oxidase Deficiency
|
|
PNPOD
|
Seizures, Pyridoxine-Resistant, Plp-Sensitive
|
|
Pyridoxal Phosphate-Dependent Seizures
|
Pyridoxamine 5'-Oxidase Deficiency
|
|
Epileptic Encephalopathy, Neonatal, Pnpo-Related
|
Pyridox Ine 5'-Phosphate Oxidase Deficiency
|
|
Deficiency, Pyridoxamine 5'-Phosphate Oxidase
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Hyperprolinemia, Type Ii |
|
Hyperprolinemia Type 2
|
HYRPRO2
|
|
Hpii
|
1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Hyperprolinemia Type Ii
|
1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Type 2 Hyperprolinemia
|
Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Hyperprolinemia 2
|
|
|
| Nonarteritic Anterior Ischemic Optic Neuropathy |
|
Anterior Ischemic Optic Neuropathy
|
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
|
|
NAION
|
Non-Arteritic Anterior Ischemic Optic Neuropathy
|
|
Ischemic Optic Neuropathy
|
Aion
|
|
Optic Neuropathy, Ischemic
|
Naion, Susceptibility To
|
|
Optic Neuropathy, Anterior Ischemic
|
Optic Neuropathy, Anterior Ischemic, Susceptibility To
|
|
Non-Arteritic Anterior Ischaemic Optic Neuropathy
|
Nonarteritic Anterior Ischaemic Optic Neuropathy
|
|
Neuropathy, Optic, Ischemic, Nonarteritic Anterior, Susceptibility To
|
Ion - [Ischemic Optic Neuropathy]
|
|
Neuropathic Ischaemia Of N.Opticus
|
Ischaemic Neuropathy Of Optic Nerve
|
|
|
| Null-Cell Leukemia |
|
Null Cell Acute Lymphoblastic Leukemia
|
Null Cell Acute Lymphoblastic Leukaemia
|
|
Null-Cell Leukaemia
|
|
|
| Status Epilepticus |
|
Grand Mal Status Epilepticus
|
Grand Mal Status
|
|
Gcse
|
Generalized Convulsive Status Epilepticus
|
|
Se
|
Epilepsy With Status Epilepticus
|
|
|
| Retinitis Pigmentosa 72 |
|
RP72
|
Retinitis Pigmentosa, Type 72
|
|
|
| Hyperprolinemia |
|
Proline Oxidase Deficiency
|
Hyperprolinemia Type 1
|
|
Proline Hydrogenase Deficiency
|
Prolinemia
|
|
Pyrroline Carboxylate Dehydrogenase Deficiency
|
Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Proline Dehydrogenase Deficiency
|
Hyperprolinemia Type 2
|
|
|
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
4-Hydroxybutyric Aciduria
|
Ssadh Deficiency
|
|
Gamma-Hydroxybutyric Aciduria
|
Gaba Metabolic Defect
|
|
SSADHD
|
Ssadh
|
|
Succinate-Semialdehyde Dehydrogenase Deficiency
|
Gamma-Hydroxybutyricaciduria
|
|
4-Hydroxybutyricaciduria
|
Gamma-Hydroxybutyric Acidemia
|
|
Succinate Semialdehyde Dehydrogenase Deficiency
|
|
|
| Gamma-Amino Butyric Acid Metabolism Disorder |
|
Disorder Of Gamma-Aminobutyric Acid Metabolism
|
Disorder Of Gaba Metabolism
|
|
Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism
|
|
|
| Psychosexual Disorder |
|
|
| Molybdenum Cofactor Deficiency |
|
Combined Molybdoflavoprotein Enzyme Deficiency
|
Mocod
|
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase
|
|
Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency
|
Deficiency Of Molybdenum Cofactor
|
|
Deficiency, Molybdenum Cofactor
|
|
|
| Acrodysostosis |
|
Acrodysplasia
|
Arkless-Graham Syndrome
|
|
Maroteaux-Malamut Syndrome
|
Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome
|
|
Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome
|
|
|
| Developmental And Epileptic Encephalopathy 21 |
|
DEE21
|
Epileptic Encephalopathy, Early Infantile, 21
|
|
Eiee21
|
Developmental And Epileptic Encephalopathy, 21
|
|
Early Infantile Epileptic Encephalopathy 21
|
Encephalopathy, Epileptic, Early Infantile, Type 21
|
|
|
| Penile Disease |
|
|
| Huntington Disease |
|
Huntington'S Disease
|
Huntington Chorea
|
|
Huntington'S Chorea
|
HD
|
|
Huntington Chronic Progressive Hereditary Chorea
|
Juvenile Huntington Disease
|
|
Chronic Progressive Chorea
|
Chronic Progressive Hereditary Chorea
|
|
Hc - [Huntington Chorea]
|
Hereditary Chorea
|
|
Progressive Hereditary Chorea
|
|
|
| Retinitis Pigmentosa 90 |
|
RP90
|
Retinitis Pigmentosa, Type 90
|
|
|
| Rapp-Hodgkin Syndrome |
|
RHS
|
Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate
|
|
Ectodermal Dysplasia, Rapp-Hodgkin Type
|
Rapp-Hodgkin Ectodermal Dysplasia Syndrome
|
|
Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate
|
Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type
|
|
Edrh
|
Rapp-Hodgkin Ectodermal Dysplasia
|
|
Orofacial Cleft 8
|
|
|
| Glycine Encephalopathy |
|
Non-Ketotic Hyperglycinemia
|
Nonketotic Hyperglycinemia
|
|
NKH
|
GCE
|
|
Hyperglycinemia, Nonketotic
|
Hyperglycinemia Nonketotic
|
|
Infantile Glycine Encephalopathy
|
Encephalopathy, Glycine
|
|
Glycine Synthase Deficiency
|
Nka
|
|
Neonatal Glycine Encephalopathy
|
Classic Glycine Encephalopathy
|
|
Neonatal Nkh
|
Neonatal Non-Ketotic Hyperglycinemia
|
|
Infantile Nkh
|
Infantile Non-Ketotic Hyperglycinemia
|
|
Non-Ketotic Hyperglycinaemia
|
Glycine Cleavage Deficiency
|
|
Nonketotic Hyperglycinaemia
|
|
|
| Capillary Lymphangioma |
|
Microcystic Lymphatic Malformation
|
Capillary Lymphatic Malformation
|
|
Microcystic Infiltrating Lymphatic Malformation
|
Microcystic Lymphangioma
|
|
Superficial Lymphangioma
|
Cutaneous Lymphangioma Circumscriptum
|
|
Superficial Lymphatic Malformation
|
Cutaneous Lymphangioma
|
|
Lymphangioma Of Skin
|
Lymphangioma Circumscriptum
|
|
|
| Osteoporosis |
|
Postmenopausal Osteoporosis
|
Osteoporosis, Postmenopausal
|
|
Bone Mineral Density Quantitative Trait Locus
|
Bmnd
|
|
Osteoporosis, Involutional
|
Osteoporosis, Susceptibility To
|
|
Osteoporosis, Postmenopausal, Susceptibility
|
Bone Mineral Density Variation Qtl, Osteoporosis
|
|
OSTEOP
|
Involutional Osteoporosis
|
|
Senile Osteoporosis
|
Osteoporosis Postmenopausal
|
|
Bone Mineral Density, Quantitative Trait Locus
|
Osteoporosis, Senile
|
|
Idiopathic Osteoporosis
|
Bone Rarefaction Nos
|
|
Type 1 Osteoporosis
|
|
|
| Patent Foramen Ovale |
|
Atrial Septal Defect Within Oval Fossa
|
Foramen Ovale Patent
|
|
Ostium Secundum Atrial Septal Defect
|
Atrial Septal Defect, Ostium Secundum Type
|
|
Foramen Ovale, Patent
|
Defect, Patent Or Persistent, Ostium Secundum
|
|
Ostium Secundum Type Atrial Septal Defect
|
Persistent Ostium Secundum
|
|
Asd Ostium Secundum Type
|
Ostium Secundum Asd
|
|
Osasd
|
Asd, Ostium Secundum Type
|
|
Pfo - [Patent Foramen Ovale]
|
Open Foramen Ovale
|
|
Open Oval Foramen
|
Persistent Foramen Ovale
|
|
Secundum Atrial Septal Defect
|
|
|
| Hypertension, Essential |
|
Essential Hypertension
|
Hypertension
|
|
High Blood Pressure
|
Hypertension, Essential, Susceptibility To
|
|
Hypertensive Disease
|
Primary Hypertension
|
|
EHT
|
Hypertension, Salt-Sensitive Essential, Susceptibility To
|
|
Hyperpiesia
|
Idiopathic Hypertension
|
|
Hypertensive Disorder
|
Hypertension, Essential, Susceptibility To, 3
|
|
Hypertension, Essential 3
|
Hypertension, Essential, Salt-Sensitive
|
|
Hypertension, Essential, Susceptibility To, 6
|
Hypertension, Essential 6
|
|
Hypertension, Salt-Sensitive Essential
|
Hypertension, Susceptibility To
|
|
Hypertension, Essential, Susceptibility To, 4
|
Hypertension, Essential 4
|
|
Hypertension, Essential, Susceptibility To, 2
|
Hypertension, Essential 2
|
|
Hypertension, Essential, Susceptibility To, 1
|
Hypertension, Essential 1
|
|
Hypertension, Essential, Susceptibility To, 5
|
Hypertension, Essential 5
|
|
Htn
|
Vascular Hypertensive Disorder
|
|
Systemic Primary Arterial Hypertension
|
Hbp - [High Blood Pressure]
|
|
Systemic Arterial Hypertensive Disorder
|
Elevated Blood Pressure
|
|
Arterial Hypertension Nos
|
Hypertension Nos
|
|
Benign Hypertension
|
Systemic Arterial Hypertension
|
|
Systemic Hypertension
|
Artery Htn
|
|
Benign Htn
|
Vascular Htn
|
|
Vascular Hypertension
|
Cholesterol Hypertension
|
|
Cholesterol Htn
|
Idiopathic Htn
|
|
Malignant Hypertension
|
Malignant Htn
|
|
Raised Blood Pressure
|
Cardiovascular Hypertension
|
|
Primary Htn - [Hypertension]
|
High Arterial Tension
|
|
High Blood Pressure Disorder
|
Ht - [Hypertension]
|
|
Htn - [Hypertension]
|
Hypertensive Vascular Disease
|
|
Hypertensive Vascular Degeneration
|
|
|
| West Syndrome |
|
Infantile Spasms
|
Infantile Spasms Syndrome
|
|
Infantile Spasm
|
X-Linked Infantile Spasm Syndrome
|
|
X-Linked Infantile Spasms
|
Epileptic Encephalopathy, Early Infantile, 1
|
|
Is
|
Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
|
|
West'S Syndrome
|
Spasms, Infantile
|
|
Is -[Infantile Spasm]
|
Salaam Spasm
|
|
Salaam Tic
|
|
|
| Cone-Rod Dystrophy 2 |
|
Cone-Rod Dystrophy
|
CORD2
|
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
|
Cord
|
Crd
|
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
|
Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
|
Progressive Cone-Rod Dystrophy
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
