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Cooper-Jabs syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008850

Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive. [ Orphanet:1488 ]

Term info

database cross reference
  • Orphanet:1488 (OMIM:209770)
  • MESH:C565923 (MONDO:equivalentTo)
  • SCTID:720748007 (MONDO:equivalentTo)
  • OMIM:209770 (Orphanet:1488/e)
Subsets

ordo_malformation_syndrome

A synonym that is historic and discouraged
aural atresia, multiple congenital anomalies, and mental retardation [ OMIM:209770 ]

definition

Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_1488, http://identifiers.org/mesh/C565923, https://omim.org/entry/209770, http://identifiers.org/snomedct/720748007

has exact synonym

aural atresia-multiple congenital anomalies-intellectual disability syndrome

has related synonym

aural atresia, multiple congenital anomalies, and intellectual disability, aural atresia, multiple congenital anomalies, and mental retardation

id

MONDO:0008850