Terminology Service for NFDI4Health
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microcephaly and chorioretinopathy 1

Go to external page 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. [ ]

Term info

Label

microcephaly and chorioretinopathy 1

Synonyms
  • Pseudotoxoplasmosis syndrome
  • TUBGCP6 microcephaly and chorioretinopathy
  • autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
  • microcephaly and chorioretinopathy 1
  • microcephaly and chorioretinopathy caused by mutation in TUBGCP6
  • microcephaly and chorioretinopathy type 1
  • microcephaly and chorioretinopathy, autosomal recessive, type 1
database cross reference
Subsets

ordo_malformation_syndrome

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 related synonym

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

id

MONDO:0009624

narrowMatch

https://icd.codes/icd10cm/Q87.8