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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 RBM28 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;   OMIM:612079
 xref: ORDO:157954
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:612079
ClinVar Annotator: match by term: Alopecia, neurologic defects, and endocrinopathy syndrome
OMIM
ClinVar
PMID:18439547 PMID:25741868 NCBI chr 4:56,398,769...56,438,442
Ensembl chr 4:56,398,769...56,438,465
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      alopecia, neurologic defects, and endocrinopathy syndrome 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  intellectual disability 3388
                    alopecia, neurologic defects, and endocrinopathy syndrome 1
paths to the root