MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
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expanddevelopmental anomaly of metabolic origin (MONDO:0015327)
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expandDNA repair disease (MONDO:0021190)
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expandeye degenerative disease (MONDO:0004884)
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expandinborn errors of metabolism (MONDO:0019052)
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expandinherited neurodegenerative disorder (MONDO:0024237)
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expandmalformation syndrome with skin/mucosae involvement (MONDO:0015331)
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expandpolymalformative genetic syndrome with increased risk of developing cancer (MONDO:0015945)
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expandprogeroid syndrome (MONDO:0015333)
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expandsyndromic retinitis pigmentosa (MONDO:0020240)
..Starting node
..expandCockayne syndrome ()

       Child Nodes:
........expandCockayne syndrome type 1 ()
........expandCockayne syndrome type 2 ()
........expandCockayne syndrome type 3 ()
........expandCOFS syndrome ()



 Sister Nodes: 
..expandAlstrom syndrome ()
..expandautosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome ()
..expandBardet-Biedl syndrome ()
..expandcleft lip-retinopathy syndrome ()
..expandCockayne syndrome ()
..expandCohen syndrome ()
..expandfamilial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ()
..expandhypogonadotropic hypogonadism-retinitis pigmentosa syndrome ()
..expandJoubert syndrome with ocular defect ()
..expandJoubert syndrome with oculorenal defect ()
..expandKearns-Sayre syndrome ()  LSDB  L: 00143;
..expandLaurence-Moon syndrome ()
..expandmuscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome ()
..expandoculotrichodysplasia ()
..expandosteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome ()
..expandpantothenate kinase-associated neurodegeneration ()
..expandPHARC syndrome ()
..expandprimary ciliary dyskinesia-retinitis pigmentosa syndrome ()
..expandpseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa ()
..expandretinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ()
..expandretinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome ()
..expandretinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome ()
..expandRHYNS syndrome ()
..expandSaldino-Mainzer syndrome ()
..expandspastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome ()
..expandTELO2-related intellectual disability-neurodevelopmental disorder ()
..expandUsher syndrome ()
..expandxeroderma pigmentosum-Cockayne syndrome complex ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:16006
Name:Cockayne syndrome
Definition:Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
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Synonyms:Cockayne's syndrome; dwarfism-retinal atrophy-deafness syndrome; Neill-Dingwall syndrome; progeria-like syndrome; progeroid nanism
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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