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autosomal recessive brachyolmia

Go to external page http://purl.obolibrary.org/obo/MONDO_0018662

Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. [ Orphanet : 448242 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:CN237725 (MONDO:equivalentTo)
  • Orphanet:448242 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/autosomal_recessive.yaml
definition
  • Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.
exactMatch
  • http://www.orpha.net/ORDO/Orphanet_448242
  • http://linkedlifedata.com/resource/umls/id/CN237725
has exact synonym
  • brachyolmia, autosomal recessive
  • brachyolmia, Hobaek/Toledo type
id
  • MONDO:0018662