JSON

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. [ NCIT:C129306 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:480111 (MONDO:equivalentTo)
  • NCIT:C129306 (MONDO:equivalentTo)
  • UMLS:C3278481 (MONDO:equivalentTo)
  • Orphanet:2518 (OMIM:251270)
  • GARD:16603 (MONDO:GARD)
  • DOID:0080105 (MONDO:equivalentTo)
  • OMIM:251270 (Orphanet:2518/e)
Subsets

ordo_disorder, gard_rare, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

ClinGen label
microcephaly and chorioretinopathy 1

abbreviation
MCCRP1 [ https://omim.org/entry/251270 MONDO:Lexical ]

exactMatch

http://www.orpha.net/ORDO/Orphanet_2518

http://identifiers.org/medgen/480111

https://omim.org/entry/251270

http://purl.obolibrary.org/obo/DOID_0080105

http://purl.obolibrary.org/obo/NCIT_C129306

http://linkedlifedata.com/resource/umls/id/C3278481

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015368

has related synonym

MCCRP1

microcephaly and chorioretinopathy, autosomal recessive, 1

autosomal recessive chorioretinopathy-microcephaly syndrome

id

MONDO:0009624

term tracker item

https://github.com/monarch-initiative/mondo/pull/2571/