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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 SPEECH DELAY AND BEHAVIORAL ABNORMALITIES
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Accession:DOID:9002095 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by global developmental delay apparent from early childhood.
Synonyms:exact_synonym: NEDMOSBA
 primary_id: OMIM:619470



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NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem222 transmembrane protein 222 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities ClinVar
OMIM
PMID:33824500 NCBI chr 5:145,465,847...145,477,932
Ensembl chr 5:145,465,847...145,484,491
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Neurodevelopmental Disorders 6803
        NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        central nervous system disease 12366
          brain disease 11603
            disease of mental health 8276
              Neurodevelopmental Disorders 6803
                NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES 1
paths to the root