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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: CPSQ1;   NEDSWMA;   quadriplegic spastic cerebral palsy 1
 primary_id: MESH:C567853
 alt_id: DOID:9007507;   OMIM:619026


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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 Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities ClinVar PMID:9084927 PMID:9536098 PMID:15571623 PMID:16199547 PMID:17576681 More... NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9084927 PMID:9973289 PMID:25741868 PMID:32707086 PMID:33188300 More... NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233 		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 Progressive Spasticity and Brain White Matter Abnormalities 2
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
            Chronic Brain Damage 104
              cerebral palsy 102
                spastic cerebral palsy 44
                  spastic quadriplegic cerebral palsy 41
                    Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities 2
paths to the root