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microcephaly-brachydactyly-kyphoscoliosis syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018091

Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. [ Orphanet:3433 ]

Term info

database cross reference
  • GARD:0005490 (MONDO:equivalentTo)
  • SCTID:719378009 (MONDO:equivalentTo)
  • MESH:C536349 (MONDO:equivalentTo)
  • Orphanet:3433 (MONDO:equivalentTo)
  • UMLS:C2931177 (Orphanet:3433)
Subsets

gard_rare, ordo_malformation_syndrome

IAO 0000233

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

definition

Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.

exactMatch

http://identifiers.org/snomedct/719378009, http://identifiers.org/mesh/C536349, http://purl.obolibrary.org/obo/Orphanet_3433, http://linkedlifedata.com/resource/umls/id/C2931177

excluded subClassOf

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

has exact synonym

Viljoen-Kallis-Voges syndrome

has related synonym

Viljoen Kallis Voges syndrome, microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability, microcephaly brachydactyly kyphoscoliosis

id

MONDO:0018091

seeAlso

https://rarediseases.info.nih.gov/diseases/5490/viljoen-kallis-voges-syndrome