JSON

microcephaly and chorioretinopathy 1

^ http://purl.obolibrary.org/obo/MONDO_0009624

An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy. [ NCIT:C129306 ]

Term info

database cross reference
  • Orphanet:2518 (OMIM:251270)
  • DOID:0080105 (MONDO:equivalentTo)
  • NCIT:C129306 (MONDO:equivalentTo)
  • OMIM:251270 (Orphanet:2518/e)
Subsets

ordo_malformation_syndrome

abbreviation
MCCRP1 [ MONDO:Lexical OMIM:251270 ]

definition

An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.

exactMatch

https://omim.org/entry/251270, http://purl.obolibrary.org/obo/Orphanet_2518, http://purl.obolibrary.org/obo/DOID_0080105, http://purl.obolibrary.org/obo/NCIT_C129306

has exact synonym

microcephaly and chorioretinopathy caused by mutation in TUBGCP6, microcephaly and chorioretinopathy, autosomal recessive, type 1, TUBGCP6 microcephaly and chorioretinopathy, microcephaly and chorioretinopathy 1, Pseudotoxoplasmosis syndrome, autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome, microcephaly and chorioretinopathy type 1

has related synonym

MCCRP1, microcephaly and chorioretinopathy, autosomal recessive, 1, autosomal recessive chorioretinopathy-microcephaly syndrome

id

MONDO:0009624