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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 motor and language delay, ocular defects, and brain abnormalities
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Accession:DOID:0081387 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: NEDMLOB
 primary_id: MIM:620428
 alt_id: DOID:9000593


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neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities OMIM
ClinVar		 PMID:25741868 PMID:37054711 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18973
    Developmental Disease 14386
      Neurodevelopmental Disorders 6853
        intellectual disability 4305
          autosomal recessive intellectual developmental disorder 293
            neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 1
Path 2
Term Annotations click to browse term
  disease 18973
    disease of anatomical entity 18268
      nervous system disease 14122
        central nervous system disease 12443
          brain disease 11681
            disease of mental health 8329
              developmental disorder of mental health 5559
                specific developmental disorder 4525
                  intellectual disability 4305
                    autosomal recessive intellectual developmental disorder 293
                      neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 1
paths to the root