JSON

congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

^ http://purl.obolibrary.org/obo/MONDO_0009803

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive. [ Orphanet:2772 ]

Term info

database cross reference
  • MESH:C537558 (Orphanet:2772/e)
  • ICD10CM:Q78.0 (Orphanet:2772/ntbt)
  • OMIM:259410 (Orphanet:2772/e)
  • UMLS:C1850184 (Orphanet:2772/e)
  • Orphanet:2772 (OMIM:259410)
Subsets

ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

definition

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_2772, http://identifiers.org/mesh/C537558, https://omim.org/entry/259410, http://linkedlifedata.com/resource/umls/id/C1850184

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019704

has related synonym

osteogenesis imperfecta congenita, microcephaly, and cataracts

id

MONDO:0009803

Term relations