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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 PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
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Accession:DOID:9004548 term browser browse the term
Definition:An autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. Brain imaging shows variable white matter abnormalities, including thin corpus callosum and poor myelination
Synonyms:exact_synonym: NEDSWMA
 pimary_id: OMIM:619026
For additional species annotation, visit the Alliance of Genome Resources.


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NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES OMIM
ClinVar
PMID:32707086 NCBI chr 5:135,675,826...135,677,432
Ensembl chr 5:135,675,832...135,677,432
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Neurodevelopmental Disorders 4534
        NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                Muscle Spasticity 53
                  NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES 1
paths to the root