Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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:25741868 PMID:25772936 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 17289
    syndrome 8166
      mandibulofacial dysostosis with alopecia 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              dysostosis 394
                synostosis 242
                  craniosynostosis 187
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        mandibulofacial dysostosis with alopecia 1
paths to the root