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C syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008893

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. [ Orphanet:1308 ]

Term info

database cross reference
  • SCTID:715409005 (MONDO:equivalentTo)
  • OMIM:211750 (Orphanet:1308/e)
  • GARD:0005978 (MONDO:equivalentTo)
  • Orphanet:1308 (OMIM:211750)
  • UMLS:C0796095 (Orphanet:1308)
  • MESH:C537418 (MONDO:equivalentTo)
  • DOID:0111581 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
OTCS [ Orphanet:1308 ]

definition

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

exactMatch

http://identifiers.org/mesh/C537418, http://linkedlifedata.com/resource/umls/id/C0796095, http://purl.obolibrary.org/obo/DOID_0111581, http://identifiers.org/snomedct/715409005, http://purl.obolibrary.org/obo/Orphanet_1308, https://omim.org/entry/211750

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

OTCS, Opitz trigonocephaly C syndrome, C syndrome, Opitz C trigonocephaly, Opitz trigonocephaly syndrome, trigonocephaly C syndrome

has related synonym

trigonocephaly syndrome

id

MONDO:0008893

seeAlso

https://rarediseases.info.nih.gov/diseases/5978/c-syndrome