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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;   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 ClinVar Annotator: match by term: ANE syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18439547 PMID:25741868 NCBI chr 4:57,722,946...57,761,935
Ensembl chr 4:57,722,223...57,761,653 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    syndrome 11180
      alopecia, neurologic defects, and endocrinopathy syndrome 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        central nervous system disease 12591
          brain disease 11816
            disease of mental health 8412
              developmental disorder of mental health 5643
                specific developmental disorder 4601
                  intellectual disability 4381
                    alopecia, neurologic defects, and endocrinopathy syndrome 1
paths to the root