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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ISO ClinVar Annotator: match by term: Ablepharon macrostomia syndrome OMIM
ClinVar
PMID:8746822 PMID:11038439 PMID:11807864 PMID:15103726 PMID:21595001 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      ablepharon macrostomia syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                ablepharon macrostomia syndrome 1
paths to the root