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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 poor growth, spastic tetraplegia, and hearing loss
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Accession:DOID:0081324 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: BKAH;   Birk-Aharoni syndrome;   NEDGTH
 primary_id: MIM:620071
 alt_id: DOID:9003640



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neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrde2 NRDE-2, necessary for RNA interference, domain containing ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ClinVar PMID:35861243 NCBI chr 6:119,405,103...119,446,861
Ensembl chr 6:119,404,334...119,448,915
JBrowse link
G Psmc1 proteasome 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ClinVar
OMIM
PMID:35861243 NCBI chr 6:119,392,833...119,405,233
Ensembl chr 6:119,392,855...119,410,123
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    sensory system disease 7183
      Hearing Disorders 827
        Hearing Loss 822
          neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss 2
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      nervous system disease 14218
        central nervous system disease 12558
          brain disease 11786
            disease of mental health 8365
              developmental disorder of mental health 5604
                specific developmental disorder 4597
                  intellectual disability 4378
                    autosomal recessive intellectual developmental disorder 292
                      neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss 2
paths to the root