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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:microcephaly and chorioretinopathy 1
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Accession:DOID:0080105 term browser browse the term
Definition:A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. (DO)
Synonyms:exact_synonym: MCCRP1;   MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1;   Microcephaly and Chorioretinopathy with or without Mental Retardation, Autosomal Recessive;   microcephaly and chorioretinopathy with or without mental retardation;   microcephaly with chorioretinopathy, autosomal recessive
 primary_id: MESH:C565379
 alt_id: OMIM:251270


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microcephaly and chorioretinopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:25741868 NCBI chr28:6,982,296...7,034,380
Ensembl chr28:6,982,146...7,033,104 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:28492532 PMID:28855619 NCBI chr33:26,663,991...26,867,370
Ensembl chr33:26,664,800...26,843,181 		JBrowse link
G PLK4 polo like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:13,041,739...13,060,300
Ensembl chr19:13,041,742...13,060,072 		JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr30:10,263,650...10,362,646
Ensembl chr30:10,263,650...10,336,134 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr30:10,226,558...10,262,805
Ensembl chr30:10,225,952...10,262,804 		JBrowse link
G TUBGCP6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 OMIM
ClinVar		 PMID:5936364 PMID:9536098 PMID:17576681 PMID:22279524 PMID:25344692 More... NCBI chr10:17,023,609...17,025,956
Ensembl chr10:17,006,770...17,025,105
Ensembl chr10:17,006,770...17,025,105 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Microcephaly and Chorioretinopathy 6
        microcephaly and chorioretinopathy 1 6
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10127
            autosomal genetic disease 9334
              autosomal dominant disease 6137
                complex cortical dysplasia with other brain malformations 1587
                  Malformations of Cortical Development, Group I 1368
                    microcephaly 1121
                      Microcephaly and Chorioretinopathy 6
                        microcephaly and chorioretinopathy 1 6
paths to the root