MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
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chromosomal anomaly (MONDO:0019040)
Parent Node:
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Rubinstein-Taybi syndrome (MONDO:0019188)
..Starting node
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chromosome 16p13.3 deletion syndrome ()

       Child Nodes:



 Sister Nodes: 
..expandchromosome 16p13.3 deletion syndrome ()
..expandRubinstein-Taybi syndrome due to 16p13.3 microdeletion ()
..expandRubinstein-Taybi syndrome due to CREBBP mutations ()
..expandRubinstein-Taybi syndrome due to EP300 haploinsufficiency ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:22752
Name:chromosome 16p13.3 deletion syndrome
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:RSTS, Severe; Rubinstein-Taybi syndrome, Severe
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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