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spastic paraplegia-facial-cutaneous lesions syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0017275

Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. [ Orphanet:2819 ]

Synonyms: Bahemuka-Brown syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C537797 (MONDO:equivalentTo)
  • SCTID:763403007 (MONDO:equivalentTo)
  • GARD:806 (MONDO:GARD)
  • MEDGEN:419453 (MONDO:equivalentTo)
  • UMLS:C2931617 (MONDO:equivalentTo)
  • Orphanet:2819 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, orphanet_rare

exactMatch

http://identifiers.org/snomedct/763403007

http://linkedlifedata.com/resource/umls/id/C2931617

http://identifiers.org/mesh/C537797

http://www.orpha.net/ORDO/Orphanet_2819

http://identifiers.org/medgen/419453

has related synonym

spastic paraplegia facial cutaneous lesions

Bahemuka Brown syndrome

id

MONDO:0017275

Term relations