JSON

congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

^ http://purl.obolibrary.org/obo/MONDO_0013760


Term info

database cross reference
  • OMIM:614457 (Orphanet:352333/e)
  • UMLS:C3280856 (OMIM:614457)
  • Orphanet:352333 (OMIM:614457)
Subsets

ordo_disease

A synonym that is historic and discouraged
ichthyosis, spastic quadriplegia, and mental retardation [ MONDO:Lexical OMIM:614457 ]

A synonym that is historic and discouraged
ISQMR [ OMIM:614457 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

exactMatch

http://purl.obolibrary.org/obo/Orphanet_352333, https://omim.org/entry/614457, http://linkedlifedata.com/resource/umls/id/C3280856

has exact synonym

congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

has related synonym

ichthyosis, spastic quadriplegia, and intellectual disability, ISQMR, ichthyosis, spastic quadriplegia, and mental retardation

id

MONDO:0013760