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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:alopecia, neurologic defects, and endocrinopathy syndrome
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Accession:DOID:0112244 term browser browse the term
Definition:A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. (DO)
Synonyms:exact_synonym: ANE Syndrome;   ANES;   RBM28-RELATED CONDITION;   alopecia-progressive neurological defect-endocrinopathy syndrome
 primary_id: MESH:C567425
 alt_id: DOID:9003428;   MIM:612079
 xref: ORDO:157954



show annotations for term's descendants           Sort by:
alopecia, neurologic defects, and endocrinopathy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm28 RNA binding motif protein 28 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANE syndrome | ClinVar Annotator: match by term: RBM28-related condition
OMIM
CTD
ClinVar
PMID:18439547 PMID:25741868 PMID:28492532 NCBI chr 4:57,722,946...57,761,935 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      alopecia, neurologic defects, and endocrinopathy syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            disease of mental health 8450
              developmental disorder of mental health 5646
                specific developmental disorder 4609
                  intellectual disability 4381
                    alopecia, neurologic defects, and endocrinopathy syndrome 1
paths to the root