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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 HEARING LOSS AND SPASTICITY
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Accession:DOID:9001315 term browser browse the term
Definition:This disease is characterized by hearing loss, global developmental delay/impaired intellectual development, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly.
Synonyms:exact_synonym: NEDHLS
 broad_synonym: SPATA5L1-ASSOCIATED DISORDER
 primary_id: MIM:619616



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NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:34626583 NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14386
      Neurodevelopmental Disorders 6856
        NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18272
      nervous system disease 14119
        Neurologic Manifestations 10108
          sensory system disease 7029
            Otorhinolaryngologic Diseases 1738
              auditory system disease 992
                Hearing Disorders 818
                  Hearing Loss 813
                    NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY 1
paths to the root