JSON

Sheldon-hall syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0011128

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. [ Orphanet:1147 ]

Synonyms: Freeman-Sheldon syndrome variant DA2B arthrogryposis, distal, type 2B distal arthrogryposis type 2B Sheldon-Hall syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:320374 (MONDO:equivalentTo)
  • GARD:16556 (MONDO:GARD)
  • DOID:0111599 (MONDO:equivalentTo)
  • UMLS:C1834523 (MONDO:equivalentTo)
  • Orphanet:1147 (OMIM:601680)
Subsets

ordo_disorder, gard_rare, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

exactMatch

http://linkedlifedata.com/resource/umls/id/C1834523

http://purl.obolibrary.org/obo/DOID_0111599

http://identifiers.org/medgen/320374

http://www.orpha.net/ORDO/Orphanet_1147

has related synonym

Freeman Sheldon syndrome, variant

Freeman Sheldon variant

arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities

arthrogryposis multiplex congenita, distal, type 2B

arthrogryposis multiplex congenita distal type 2B

arthrogryposis multiplex congenita distal type II with craniofacial abnormalities

id

MONDO:0011128

Term relations

Subclass of: