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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:9003428 term browser browse the term
Synonyms:exact_synonym: ANE Syndrome;   ANES
 primary_id: MESH:C567425;   RDO:0015497
 alt_id: OMIM:612079
For additional species annotation, visit the Alliance of Genome Resources.


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 OMIM:612079
ClinVar Annotator: match by term: Alopecia, neurologic defects, and endocrinopathy syndrome
OMIM
ClinVar
PMID:18439547 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 16108
    syndrome 6992
      Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              developmental disorder of mental health 3113
                specific developmental disorder 2287
                  intellectual disability 2107
                    Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.