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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:neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
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Accession:DOID:0081263 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: GEMIN4-RELATED CONDITION;   NEDMCR;   NEDMCR syndrome
 primary_id: MIM:617913
 alt_id: DOID:9002308


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neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin4 gem (nuclear organelle) associated protein 4 ISO ClinVar Annotator: match by term: GEMIN4-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:27878435 PMID:28492532 PMID:30237576 NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431
Ensembl chr10:61,066,425...61,073,431 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    physical disorder 5194
      congenital nervous system abnormality 1537
        microcephaly 1147
          neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            disease of mental health 8443
              developmental disorder of mental health 5647
                specific developmental disorder 4611
                  intellectual disability 4384
                    autosomal recessive intellectual developmental disorder 296
                      neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 1
paths to the root