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
Term information
- OMIM:251270 (Orphanet:2518/e)
- DOID:0080105 (MONDO:equivalentTo)
- Orphanet:2518 (OMIM:251270)
- UMLS:C3278481 (MONDO:equivalentTo)
- NCIT:C129306 (MONDO:equivalentTo)
- MEDGEN:480111 (MONDO:equivalentTo)
- GARD:16603 (MONDO:GARD)
matrix_llm__is_cancer_other, ordo_disorder, gard_rare, mondo_top_grouping_disorder_of_visual_system, matrix_llm__txgnn_other, mondo_top_grouping_member, harrisons_view_psychiatric_disorder, matrix_included, nord_rare, clingen, harrisons_view_inflammatory_disease, matrix_txgnn_grouping_member, rare, mondo_top_grouping_inflammatory_disease, matrix_txgnn_grouping_psychiatric_disorder, orphanet_rare, harrisons_view_nervous_system_disorder, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, harrisons_view_disorder_of_visual_system, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, ordo_malformation_syndrome, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, mondo_top_grouping_disorder_of_orbital_region
http://www.orpha.net/ORDO/Orphanet_2518
https://omim.org/entry/251270
http://identifiers.org/medgen/480111
http://purl.obolibrary.org/obo/DOID_0080105
http://purl.obolibrary.org/obo/NCIT_C129306
http://linkedlifedata.com/resource/umls/id/C3278481
MCCRP1
microcephaly and chorioretinopathy, autosomal recessive, 1
autosomal recessive chorioretinopathy-microcephaly syndrome