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Ontology Browser

Parent Terms Term With Siblings Child Terms
adrenoleukodystrophy +   
adult spinal muscular atrophy  
Aland Island eye disease  
Alexander Disease  
Allan-Herndon-Dudley syndrome  
anterior horn cell disease 
autosomal dominant adult-onset proximal spinal muscular atrophy  
autosomal dominant distal hereditary motor neuronopathy +   
autosomal recessive distal hereditary motor neuronopathy +   
Barth syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
Canavan disease  
CD40 ligand deficiency +   
Cerebrocortical Degeneration of Infancy 
Charcot-Marie-Tooth disease X-linked recessive 2 
Charcot-Marie-Tooth disease X-linked recessive 3 
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth disease X-linked recessive 5  
childhood spinal muscular atrophy +   
Cockayne syndrome +   
combined oxidative phosphorylation deficiency 6  
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
congenital nongoitrous hypothyroidism 9  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Dent disease +   
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
Distal Hereditary Motor Neuropathy, Type II 
Duchenne muscular dystrophy +   
Dystonia Musculorum Deformans +   
ectodermal dysplasia 1 +   
factor VIII deficiency +   
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
Fanconi anemia complementation group B  
FG syndrome +   
frontometaphyseal dysplasia 1  
Galloway-Mowat syndrome 2  
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
glycogen storage disease IXa  
glycogen storage disease IXd  
hemophilia B  
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
hypogonadotropic hypogonadism 1 with or without anosmia  
ichthyosis follicularis-alopecia-photophobia syndrome  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Keipert syndrome  
Kennedy's disease  
An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.
Lafora disease  
Lesch-Nyhan syndrome +   
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
MASA syndrome  
megalocornea +   
MEHMO syndrome  
MEND syndrome  
Mental Retardation, X-Linked +   
methylmalonic acidemia and homocysteinemia cblX type  
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
Mullegama-Klein-Martinez syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
myotonia congenita +   
myotonic dystrophy type 1 +   
neuroacanthocytosis +   
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
Norrie disease  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Opticocochleodentate Degeneration 
osteogenesis imperfecta type 19  
Paganini-Miozzo syndrome  
pantothenate kinase-associated neurodegeneration +   
Partington syndrome  
PCWH syndrome  
Pelizaeus-Merzbacher disease +   
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
phosphoribosylpyrophosphate synthetase superactivity  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Prieto syndrome 
primary cerebellar degeneration +   
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Progressive Psychomotor Deterioration  
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
scapuloperoneal spinal muscular atrophy  
Shukla-Vernon syndrome  
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
spinal muscular atrophy with lower extremity predominance +   
Spinal Muscular Atrophy with Mental Retardation 
Spinal Muscular Atrophy, Facioscapulohumeral Type  
Spinal Muscular Atrophy, Jokela Type  
Spinal Muscular Atrophy, Ryukyuan Type 
Spinal Muscular Atrophy, Segmental 
spondyloepiphyseal dysplasia tarda +   
Spongiform Encephalopathy with Neuropsychiatric Features  
syndactyly type 8  
syndromic microphthalmia 10 
syndromic microphthalmia 4  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
tuberous sclerosis +   
Unverricht-Lundborg syndrome +   
Van Esch-O'Driscoll syndrome  
Waisman syndrome  
Wilson disease +   
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked Aarskog syndrome  
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked chronic idiopathic intestinal pseudo-obstruction  
X-linked cone-rod dystrophy 3  
X-linked congenital hemolytic anemia  
X-linked deafness 5  
X-linked distal spinal muscular atrophy 3  
X-linked dyskeratosis congenita +   
X-linked dystonia-parkinsonism  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-linked Emery-Dreifuss muscular dystrophy 6  
X-linked hyper IgM syndrome  
X-linked ichthyosis +   
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked intellectual developmental disorder 108  
X-linked juvenile retinoschisis 1  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked myopathy with excessive autophagy  
X-linked nephrolithiasis type I  
X-linked properdin deficiency  
X-linked recessive hypophosphatemic rickets  
X-linked severe combined immunodeficiency  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  
X-linked spinal muscular atrophy 2  
X-linked spinocerebellar ataxia 1  
X-linked spinocerebellar ataxia 5 
X-linked thrombocytopenia with beta-thalassemia  
X-linked VACTERL association  

Exact Synonyms: KD ;   KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY ;   Kennedy Syndrome ;   Kennedy disease ;   Kennedys disease ;   SBMA ;   SMAX1 ;   SPINAL AND BULBAR MUSCULAR ATROPHY ;   X linked bulbospinal muscular atrophy ;   X-linked bulbo-spinal atrophies ;   X-linked bulbo-spinal atrophy ;   X-linked bulbospinal neuronopathy, recessive ;   X-linked spinal and bulbar muscular atrophy ;   X-linked spinal and bulbar muscular atrophy 1 ;   XBSN ;   spinal bulbar muscular atrophy ;   spinobulbar muscular atrophy
Primary IDs: MESH:D055534
Alternate IDs: MESH:C537017 ;   OMIM:313200 ;   RDO:0002765 ;   RDO:0002766
Xrefs: GARD:6818 ;   NCI:C85233
Definition Sources: MESH:D055534, "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.