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ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0000748
 xref: GARD:3;   ORDO:920
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ablepharon macrostomia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:7240710
RGD:8554872

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  disease 14759
    syndrome 4210
      ablepharon macrostomia syndrome 1
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal dominant disease 1092
                ablepharon macrostomia syndrome 1
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