Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1

Preferred Label : Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1;

NCIt synonyms : MCCRP1;

NCIt 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.;

Details

Origin ID

C129306;

UMLS CUI

C3278481;

Currated CISMeF NLP mapping
- Autosomal recessive chorioretinopathy-microcephaly syndrome [ORDO Disease]
- Microcephaly and chorioretinopathy, autosomal recessive, 1 [OMIM Phenotype]
- microcephaly and chorioretinopathy 1 [DO Concept]
- microcephaly with chorioretinopathy, autosomal recessive [MeSH concept]
- microcephaly with chorioretinopathy, autosomal recessive [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly and chorioretinopathy, autosomal recessive, 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) [SNOMED CT concept]
- Chorioretinopathy - microcephaly, autosomal recessive [ICD-11 More detail]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

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