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intellectual disability-sparse hair-brachydactyly syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0011053

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now. [ Orphanet:3051 ]

Synonyms: intellectual disability-sparse hair-brachydactyly syndrome SMARCA2-related BAFopathy Nicolaides-Baraitser syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:3051 (OMIM:601358)
  • SCTID:401046009 (MONDO:equivalentTo)
  • UMLS:C1303073 (Orphanet:3051)
  • GARD:270 (Orphanet:3051)
  • OMIM:601358 (Orphanet:3051/e)
  • MESH:C536116 (MONDO:equivalentTo)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

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

https://github.com/monarch-initiative/mondo/issues/3939

exactMatch

http://linkedlifedata.com/resource/umls/id/C1303073

http://identifiers.org/snomedct/401046009

http://identifiers.org/mesh/C536116

https://omim.org/entry/601358

http://www.orpha.net/ORDO/Orphanet_3051

has related synonym

sparse hair and mental retardation

NCBRS

sparse hair and intellectual disability

NICOLAIDES-Baraitser syndrome

NBs

id

MONDO:0011053

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011053