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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:ablepharon macrostomia syndrome
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Accession:DOID:0060550 term browser browse the term
Definition:A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: AMS
 primary_id: MESH:C535557
 alt_id: OMIM:200110
 xref: GARD:3;   ORDO:920



show annotations for term's descendants           Sort by:
ablepharon macrostomia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWIST2 twist family bHLH transcription factor 2 IAGP
EXP
ClinVar Annotator: match by term: Ablepharon macrostomia syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2036354 PMID:8746822 PMID:11038439 PMID:11807864 PMID:15103726 More... NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    syndrome 17742
      ablepharon macrostomia syndrome 1
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        Neurologic Manifestations 15118
          sensory system disease 9679
            mouth disease 1363
              Mouth Abnormalities 200
                Macrostomia 2
                  ablepharon macrostomia syndrome 1
paths to the root