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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:mandibulofacial dysostosis with alopecia
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Accession:DOID:0060365 term browser browse the term
Definition:A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. (DO)
Synonyms:exact_synonym: MFDA
 primary_id: OMIM:616367
 alt_id: RDO:9001644
For additional species annotation, visit the Alliance of Genome Resources.


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mandibulofacial dysostosis with alopecia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia ClinVar
OMIM
PMID:16116593, PMID:20583178, PMID:25772936 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      mandibulofacial dysostosis with alopecia 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        mandibulofacial dysostosis with alopecia 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.