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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


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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
ISS		 ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia
CTD Direct Evidence: marker/mechanism
OMIM:616367		 OMIM
ClinVar
CTD
MouseDO		 PMID:16116593 PMID:20583178 PMID:25741868 PMID:25772936 PMID:28492532 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      mandibulofacial dysostosis with alopecia 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              dysostosis 577
                synostosis 376
                  craniosynostosis 315
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        mandibulofacial dysostosis with alopecia 1
paths to the root