MSeqDR Mitochondrial Disease Portal

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Disease Browser
Parent Node:
Corneal Dystrophies, Hereditary (D003317)
Parent Node:
Spinocerebellar Degenerations (D013132)
..Starting node
Corneal cerebellar syndrome (C535472)

       Child Nodes:

 Sister Nodes: 
..expandCorneal cerebellar syndrome (C535472)
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandHereditary spinal ataxia (C531684)
..expandInfantile onset spinocerebellar ataxia (C535523) Child1  LSDB C:1
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMyoclonic Cerebellar Dyssynergia (D002527) Child1
..expandOlivopontocerebellar Atrophies (D009849) Child15  LSDB C:1
..expandPosterior column ataxia (C536342)
..expandSensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..expandSpinocerebellar ataxia 19 (C537198)
..expandSpinocerebellar ataxia 21 (C537200)
..expandSpinocerebellar ataxia 22 (C542540)
..expandSpinocerebellar ataxia 23 (C537201)
..expandSpinocerebellar ataxia 27 (C537204)
..expandSpinocerebellar Ataxia 29 (C537206)
..expandSpinocerebellar ataxia 8 (C537307)
..expandSpinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
..expandSpinocerebellar ataxia, autosomal recessive 3 (C537309)
..expandSpinocerebellar ataxia, autosomal recessive 4 (C537310)
..expandSpinocerebellar ataxia, autosomal recessive 5 (C537311)
..expandSpinocerebellar ataxia, autosomal recessive 6 (C537312)
..expandSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy (C537313)
..expandSpinocerebellar ataxia, X-linked, 2 (C537314)
..expandSpinocerebellar ataxia, X-linked, 4 (C537316)
..expandSpinocerebellar Ataxias (D020754) Child34  LSDB C:2

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3003
Name:Corneal cerebellar syndrome
Alternative IDs:
TreeNumbers:C10. |C10.228.854.787/C535472 |C10.574.500.825/C535472 |C11.204.236/C535472 |C11.270.162/C535472 |C16.320.290.162/C535472 |C16.320.400.780/C535472
Synonyms:Corneal-Cerebellar Syndrome |Corneal dystrophy with spinocerebellar degeneration |Der kaloustian Jarudi Khoury syndrome |Spinocerebellar degeneration and corneal dystrophy
Slim Mappings:Eye disease|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C535472
MeSH: C535472
Genes: GJB2;
Disease Causing ClinVar Variants
MSeqDR Portal