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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: NEDMCR;   NEDMCR syndrome
 primary_id: OMIM: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: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities OMIM
ClinVar
PMID:25558065 PMID:25741868 PMID:27878435 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    physical disorder 4936
      congenital nervous system abnormality 1480
        microcephaly 1119
          neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      nervous system disease 14045
        central nervous system disease 12381
          brain disease 11618
            disease of mental health 8282
              developmental disorder of mental health 5519
                specific developmental disorder 4478
                  intellectual disability 4269
                    autosomal recessive intellectual developmental disorder 289
                      neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 1
paths to the root