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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 NEUROMUSCULAR AND SKELETAL ABNORMALITIES
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Accession:DOID:9007937 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood. The severity of the disorder is highly variable. Affected individuals show impaired intellectual development and motor delay associated with either severe hypotonia or hypertonia and spasticity. Most affected individuals have skeletal defects and dysmorphic facial features.
Synonyms:exact_synonym: NEDNMS;   NRCAM-RELATED CONDITION;   NRCAM-RELATED DISORDER
 primary_id: OMIM:619833


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NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrcam neuronal cell adhesion molecule ISO ClinVar Annotator: match by term: NRCAM-related condition | ClinVar Annotator: match by term: NRCAM-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35108495 NCBI chr 6:61,402,813...61,698,536
Ensembl chr 6:61,329,863...61,702,992 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              Neurodevelopmental Disorders 6848
                NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES 1
paths to the root