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About: ablepharon macrostomia syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • ablepharon macrostomia syndrome (en)
described by
id
  • DOID:0060550
database_cross_reference
  • GARD:3
  • MESH:C535557
  • OMIM:200110
  • ORDO:920
  • SNOMEDCT_US_2021_09_01:718575002
  • UMLS_CUI:C1860224
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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