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Ontology Browser

Term:
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  
Camptocormia  
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 +   
CK syndrome  
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 +   
developmental and epileptic encephalopathy 1  
developmental and epileptic encephalopathy 8  
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 
HRPT-related hyperuricemia  
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 1  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
immunodeficiency 33  
immunodeficiency 34  
immunodeficiency 47  
immunodeficiency 50  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Keipert syndrome  
Kennedy's disease  
A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. (DO)
Lafora disease  
Lesch-Nyhan syndrome +   
Leukoencephalomyelopathy  
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 +   
nephrogenic syndrome of inappropriate antidiuresis  
neuroacanthocytosis +   
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
non-syndromic X-linked intellectual disability 100  
non-syndromic X-linked intellectual disability 101  
non-syndromic X-linked intellectual disability 103  
non-syndromic X-linked intellectual disability 104  
non-syndromic X-linked intellectual disability 105  
non-syndromic X-linked intellectual disability 21  
non-syndromic X-linked intellectual disability 30  
non-syndromic X-linked intellectual disability 46  
non-syndromic X-linked intellectual disability 53 
non-syndromic X-linked intellectual disability 58  
non-syndromic X-linked intellectual disability 72  
non-syndromic X-linked intellectual disability 73 
non-syndromic X-linked intellectual disability 77 
non-syndromic X-linked intellectual disability 81 
non-syndromic X-linked intellectual disability 82  
non-syndromic X-linked intellectual disability 84 
non-syndromic X-linked intellectual disability 9  
non-syndromic X-linked intellectual disability 90  
non-syndromic X-linked intellectual disability 92  
non-syndromic X-linked intellectual disability 93  
non-syndromic X-linked intellectual disability 96  
non-syndromic X-linked intellectual disability 99  
non-syndromic X-linked intellectual disability ARX-related  
Norrie disease  
nuclear type mitochondrial complex I deficiency 12  
nuclear type mitochondrial complex I deficiency 30  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Opitz GBBB syndrome type I  
Opticocochleodentate Degeneration 
orofaciodigital syndrome VIII 
osteogenesis imperfecta type 19  
Paganini-Miozzo syndrome  
pantothenate kinase-associated neurodegeneration +   
partial androgen insensitivity syndrome  
Partington syndrome  
PCWH syndrome  
Pelizaeus-Merzbacher disease +   
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
phosphoglycerate kinase 1 deficiency  
phosphoribosylpyrophosphate synthetase superactivity  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Prieto syndrome 
primary cerebellar degeneration +   
primary ovarian insufficiency 2B  
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
progressive muscular atrophy  
Progressive Psychomotor Deterioration  
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
scapuloperoneal spinal muscular atrophy  
severe congenital encephalopathy due to MECP2 mutation  
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, Infantile, James Type  
Spinal Muscular Atrophy, Jokela Type  
Spinal Muscular Atrophy, Ryukyuan Type 
Spinal Muscular Atrophy, Segmental 
Spongiform Encephalopathy with Neuropsychiatric Features  
syndactyly type 8  
syndromic microphthalmia 10 
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  
syndromic X-linked mental retardation 35  
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 atrophic macular degeneration  
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 dyserythropoietic anemia  
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 74  
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked intellectual developmental disorder 108  
X-linked intellectual disability-short stature-overweight syndrome  
X-linked juvenile retinoschisis 1  
X-linked keratosis follicularis spinulosa decalvans  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques  
X-linked myopathy with excessive autophagy  
X-linked nephrolithiasis type I  
X-linked parkinsonism-spasticity syndrome  
X-linked properdin deficiency  
X-linked recessive hypophosphatemic rickets  
X-linked severe combined immunodeficiency  
X-linked severe congenital neutropenia  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  
X-linked spermatogenic failure 3  
X-linked spinal muscular atrophy 2  
X-linked spinocerebellar ataxia 1  
X-linked spinocerebellar ataxia 5 
X-linked spondyloepimetaphyseal dysplasia  
X-linked spondyloepiphyseal dysplasia tarda  
X-linked thrombocytopenia with beta-thalassemia  
X-linked VACTERL association  

Synonyms
Exact Synonyms: KD ;   Kennedy Syndrome ;   Kennedy disease ;   Kennedy spinal and bulbar muscular atrophy ;   Kennedys disease ;   SBMA ;   SMAX1 ;   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 and bulbar muscular atrophy ;   spinal bulbar muscular atrophy ;   spinobulbar muscular atrophy
Primary IDs: MESH:D055534
Alternate IDs: MESH:C537017 ;   OMIM:313200
Xrefs: GARD:6818 ;   NCI:C85233
Definition Sources: http://en.wikipedia.org/wiki/Kennedy_disease "DO"

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