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craniolenticulosutural dysplasia

^ http://purl.obolibrary.org/obo/MONDO_0011911

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. [ Orphanet:50814 ]

Term info

database cross reference
  • SCTID:725100001 (MONDO:equivalentTo)
  • DOID:0070307 (MONDO:equivalentTo)
  • MESH:C564332 (MONDO:equivalentTo)
  • OMIM:607812 (Orphanet:50814/e)
  • Orphanet:50814 (OMIM:607812)
  • UMLS:C1843042 (Orphanet:50814)
Subsets

ordo_malformation_syndrome

abbreviation
CLSD [ OMIM:607812 MONDO:Lexical ]

definition

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1843042, https://omim.org/entry/607812, http://identifiers.org/snomedct/725100001, http://purl.obolibrary.org/obo/DOID_0070307, http://purl.obolibrary.org/obo/Orphanet_50814, http://identifiers.org/mesh/C564332

has exact synonym

Boyadjiev-Jabs syndrome, craniolenticulosutural dysplasia, cranio-lenticulo-sutural dysplasia, CLSD

id

MONDO:0011911