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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
46,XY sex reversal 2  
Abruzzo-Erickson syndrome  
Achromatopsia Incomplete, X-Linked 
Aicardi syndrome 
alpha-thalassemia myelodysplasia syndrome  
Alzheimer's disease 16 
AMME complex  
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Arthrogryposis, X-Linked, Type V 
Bornholm Eye Disease 
Brain Small Vessel Disease 2  
Brain Small Vessel Disease 3  
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
cataract 40  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Choroideremia +   
Chromosome Xq28 Duplication Syndrome 
Cleft Palate with Ankyloglossia  
COL4A1-related familial vascular leukoencephalopathy  
combined T cell and B cell immunodeficiency +   
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Congenital Adrenal Hypoplasia with Precocious Puberty 
Congenital Alopecia X-Linked 
congenital bilateral absence of vas deferens +   
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
congenital nystagmus 1  
Congenital Ptosis, Hereditary 2 
corpus callosum agenesis-abnormal genitalia syndrome  
Craniofacioskeletal Syndrome 
CST3-related cerebral amyloid angiopathy +   
deafness-intellectual disability, Martin-Probst type syndrome  
Dilated Cardiomyopathy 3A  
Dysphoric Cerebral Angiopathy 
Epidermodysplasia Verruciformis, X-Linked 
Episodic Muscle Weakness, X-Linked 
External Ophthalmoplegia and Myopia 
Fabry disease +   
A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. (DO)
Farber lipogranulomatosis  
favism  
Fetal Akinesia Syndrome, X-Linked 
gangliosidosis +   
Gaucher's disease +   
glycogen storage disease VIII 
High-Frequency Deafness, Sensorineural, X-Linked 
Hodgkin Disease, X-Linked Pseudoautosomal 
Hydrocephalus with Cerebellar Agenesis 
Hypertrichosis Congenital Generalized X-Linked 
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
Intracranial Berry Aneurysm 5 
Isolated Microphthalmia with Coloboma 1 
Isolated Noncompaction of the Ventricular Myocardium +   
Krabbe disease +   
Lacunar Strokes  
Leigh Syndrome, X-Linked  
McLeod syndrome  
Meester-Loeys syndrome  
MELAS syndrome +   
Melnick-Needles syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
metachromatic leukodystrophy +   
Microcephaly Microcornea Syndrome Seemanova Type 
Microscopic Polyangiitis  
Midline Defects, X-Linked 
mucosulfatidosis  
Multiple Pterygium Syndrome, X-Linked 
Myopia 1 
Myopia 13 
Myopia 26, X-Linked, Female-Limited  
NEMO Mutation with Immunodeficiency 
Neural Tube Defects X-Linked 
Niemann-Pick disease +   
Nystagmus 5, Infantile Periodic Alternating 
Ogden syndrome  
optic atrophy 2 
ornithine carbamoyltransferase deficiency  
ovarian dysgenesis 2 +   
Parkinson's Disease 12 
Partial Agenesis of Corpus Callosum, X-Linked  
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
primary ovarian insufficiency 1  
primary ovarian insufficiency 4 
Progressive Muscular Dystrophy, Pectorodorsal 
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
reducing body myopathy 1B  
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Russell-Silver Syndrome, X-Linked 
sea-blue histiocytosis  
Selective Tooth Agenesis, X-Linked, 1  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Spina Bifida, X-Linked 
split hand-foot malformation 2 
Spondylometaphyseal Dysplasia, X-Linked 
Sulfatidosis +   
Surfactant Metabolism Dysfunction, Pulmonary, 4  
syndromic microphthalmia 13  
TARP syndrome  
terminal osseous dysplasia  
Testicular Germ Cell Tumor 1 
Thrombocythemia, X-Linked 
Thrombocytopenia 1  
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Vasquez Hurst Sotos Syndrome 
VEXAS syndrome  
Von Willebrand Disease, X-Linked Form 
Wells Jankovic Syndrome 
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia without Thrombocytopenia 
X-linked cardiac valvular dysplasia  
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked congenital myopathy with fiber-type disproportion 
X-linked dilated cardiomyopathy  
X-linked dominant disease +   
X-linked epilepsy with variable learning disabilities and behavior disorders  
X-linked exudative vitreoretinopathy 2  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
X-Linked Hypogammaglobulinemia  
X-linked hypoparathyroidism 
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Macular Dystrophy +   
X-Linked Modifier for Neurofunctional Defects 
X-linked nonsyndromic deafness +   
X-linked panhypopituitarism  
X-linked recessive disease +   
X-linked reticulate pigmentary disorder  
X-linked retinitis pigmentosa and sinorespiratory infections  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-linked thrombophilia due to factor IX defect  
X-Linked Vesicoureteral Reflux 

Synonyms
Exact Synonyms: Anderson-Fabry disease ;   Angiokeratoma Corporis Diffusum ;   Angiokeratoma Diffuse ;   Fabry's Disease ;   GLA deficiency ;   alpha Galactosidase A Deficiency Disease ;   alpha galactosidase A deficiency ;   alpha galactosidase deficiency ;   ceramide trihexosidase deficiency ;   deficiency of melibiase ;   hereditary dystopic lipidosis
Primary IDs: MESH:D000795
Alternate IDs: OMIM:301500
Xrefs: GARD:6400 ;   ICD10CM:E75.21 ;   NCI:C84701
Definition Sources: https://ghr.nlm.nih.gov/condition/fabry-disease "DO"

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