JSON

Rubinstein-Taybi syndrome

^ http://purl.obolibrary.org/obo/MONDO_0019188

A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. [ Orphanet:783 ]

Term info

database cross reference
  • OMIMPS:180849 (MONDO:equivalentTo)
  • GARD:0007593 (MONDO:equivalentTo)
  • UMLS:C0035934 (Orphanet:783/e)
  • MESH:D012415 (Orphanet:783/e)
  • SCTID:45582004 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • NCIT:C75466 (MONDO:equivalentTo)
  • DECIPHER:7 (MONDO:equivalentTo)
  • MedDRA:10039281 (Orphanet:783/e)
  • Orphanet:783 (MONDO:equivalentTo)
  • DOID:1933 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

abbreviation
RSTS [ GARD:0007593 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

closeMatch

http://identifiers.org/meddra/10039281

definition

A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_783, https://omim.org/phenotypicSeries/PS180849, http://identifiers.org/mesh/D012415, http://linkedlifedata.com/resource/umls/id/C0035934, http://identifiers.org/snomedct/45582004, http://purl.obolibrary.org/obo/NCIT_C75466, http://purl.obolibrary.org/obo/DOID_1933

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005328, http://purl.obolibrary.org/obo/MONDO_0020237, http://purl.obolibrary.org/obo/MONDO_0000426, http://purl.obolibrary.org/obo/MONDO_0016565

has exact synonym

Rubinstein syndrome, Broad thumb-hallux syndrome, Rubinstein-Taybi Syndrome, proximal chromosome 16p13.3 deletion syndrome, Broad thumbs-halluces syndrome

id

MONDO:0019188