JSON

campomelia, Cumming type

^ http://purl.obolibrary.org/obo/MONDO_0008896

Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. [ Orphanet:1318 ]

Term info

database cross reference
  • Orphanet:1318 (OMIM:211890)
  • GARD:0001061 (MONDO:equivalentTo)
  • MESH:C537966 (Orphanet:1318/e)
  • SCTID:720599002 (MONDO:equivalentTo)
  • OMIM:211890 (Orphanet:1318/e)
  • UMLS:C1859371 (Orphanet:1318/e)
Subsets

gard_rare, ordo_malformation_syndrome

definition

Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.

exactMatch

http://identifiers.org/snomedct/720599002, http://identifiers.org/mesh/C537966, https://omim.org/entry/211890, http://linkedlifedata.com/resource/umls/id/C1859371, http://purl.obolibrary.org/obo/Orphanet_1318

has exact synonym

campomelia, Cumming type

has related synonym

campomelia Cumming type, campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys, cervical lymphocele with bowed long bones, Cumming syndrome

id

MONDO:0008896

seeAlso

https://rarediseases.info.nih.gov/diseases/1061/campomelia-cumming-type