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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


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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 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 4:58,688,337...58,727,312
Ensembl chr 4:58,688,337...58,726,968 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11436
      alopecia, neurologic defects, and endocrinopathy syndrome 1
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18458
      nervous system disease 14370
        central nervous system disease 12648
          brain disease 11868
            disease of mental health 8486
              developmental disorder of mental health 5665
                specific developmental disorder 4641
                  intellectual disability 4407
                    alopecia, neurologic defects, and endocrinopathy syndrome 1
paths to the root