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recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0017232

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. [ Orphanet:280384 ]

Synonyms: IDMDC

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1659846 (MONDO:equivalentTo)
  • UMLS:C4749580 (MONDO:equivalentTo)
  • Orphanet:280384 (MONDO:equivalentTo)
  • GARD:21083 (MONDO:GARD)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

exactMatch

http://linkedlifedata.com/resource/umls/id/C4749580

http://identifiers.org/medgen/1659846

http://www.orpha.net/ORDO/Orphanet_280384

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0017232

Term relations

Subclass of: