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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Pterygium (D011625)
Parent Node: Rubinstein-Taybi Syndrome (D012415)
..Starting node ..Rubinstein Taybi like syndrome (C535877)
Child Nodes:
Sister Nodes:
..Chromosome 16p13.3 Deletion Syndrome (C566433)
..Rubinstein Taybi like syndrome (C535877)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9915
Name:	Rubinstein Taybi like syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D011625\|MESH:D012415
TreeNumbers:	C05.116.099.370.797/C535877 \|C05.660.207.850/C535877 \|C10.597.606.643.700/C535877 \|C11.187.781/C535877 \|C16.131.077.804/C535877 \|C16.131.260.790/C535877 \|C16.131.621.207.850/C535877 \|C16.320.180.790/C535877
Synonyms:
Slim Mappings:	Congenital abnormality\|Eye disease\|Genetic disease (inborn)\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: C535877 MeSH: C535877 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants