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craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

^ http://purl.obolibrary.org/obo/MONDO_0800436

Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene. [ MONDO:patterns/disease_series_by_gene https://orcid.org/0000-0001-5208-3432 ]

Term info

database cross reference
  • OMIM:213980 (Orphanet:1394/e)
  • Orphanet:1394 (OMIM:213980)
  • SCTID:720635002 (MONDO:equivalentTo)
  • GARD:0001210 (MONDO:equivalentTo)
  • MESH:C565862 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

A synonym that is historic and discouraged
CFSMR [ OMIM:213980 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5619

definition

Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.

exactMatch

http://identifiers.org/snomedct/720635002, https://omim.org/entry/213980, http://purl.obolibrary.org/obo/Orphanet_1394, http://identifiers.org/mesh/C565862

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015159, http://purl.obolibrary.org/obo/MONDO_0018454, http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

cerebrofaciothoracic dysplasia, CFSMR1, pascual-Castroviejo syndrome type 1

has related synonym

pascual-Castroviejo syndrome, CFSMR, cerebro facio thoracic dysplasia

id

MONDO:0800436

seeAlso

https://rarediseases.info.nih.gov/diseases/1210/cerebro-facio-thoracic-dysplasia