JSON

macrocephaly-short stature-paraplegia syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0016571

Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults. [ Orphanet:2427 ]

Synonyms: Volcke-Soekarman syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C2931595 (MONDO:equivalentTo)
  • SCTID:722033000 (MONDO:equivalentTo)
  • MEDGEN:419845 (MONDO:equivalentTo)
  • GARD:172 (MONDO:GARD)
  • MESH:C537718 (MONDO:equivalentTo)
  • Orphanet:2427 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

exactMatch

http://identifiers.org/mesh/C537718

http://www.orpha.net/ORDO/Orphanet_2427

http://identifiers.org/medgen/419845

http://identifiers.org/snomedct/722033000

http://linkedlifedata.com/resource/umls/id/C2931595

id

MONDO:0016571