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X-linked complicated corpus callosum dysgenesis

Go to external page http://purl.obolibrary.org/obo/MONDO_0010569

X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum. [ Orphanet:1497 ]

Synonyms: corpus callosum, partial agenesis of, X-linked recessive

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:12526 (MONDO:GARD)
  • MESH:C564115 (MONDO:equivalentTo)
  • UMLS:C1839909 (MONDO:equivalentTo)
  • Orphanet:1497 (OMIM:304100)
  • MEDGEN:374339 (MONDO:equivalentTo)
  • OMIM:304100 (Orphanet:1497/e)
Subsets

gard_rare, otar, ordo_subtype_of_a_disorder, rare, nord_rare

exactMatch

http://linkedlifedata.com/resource/umls/id/C1839909

http://www.orpha.net/ORDO/Orphanet_1497

http://identifiers.org/mesh/C564115

https://omim.org/entry/304100

http://identifiers.org/medgen/374339

has related synonym

X-linked partial corpus callosum agenesis

X-linked complicated corpus callosum agenesis

X-linked partial agenesis of corpus callosum

corpus callosum, partial agenesis of, X-linked

id

MONDO:0010569

term tracker item

https://github.com/monarch-initiative/mondo/issues/4521