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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 cataracts, poor growth, and dysmorphic facies
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Accession:DOID:0070346 term browser browse the term
Definition:A syndrome that is characterized by common dysmorphic features including frontal bossing, small palebral fissures, widely spaced eyes, and has_symptom abnormal gait, hypotonia, and cataracts. (DO)
Synonyms:exact_synonym: NDCAGF
 primary_id: OMIM:618571
For additional species annotation, visit the Alliance of Genome Resources.


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neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ints1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES ClinVar
OMIM
PMID:25741868 PMID:28763441 PMID:30622326 PMID:31428919 NCBI chr12:16,950,704...16,974,896
Ensembl chr12:18,074,033...18,082,197
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          eye disease 2643
            lens disease 202
              cataract 195
                neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1
paths to the root