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About: scalp-ear-nipple 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
  • scalp-ear-nipple syndrome
described by
id
  • DOID:0111550
database_cross_reference
  • GARD:159
  • MESH:C536623
  • OMIM:181270
  • ORDO:2036
  • SNOMEDCT_US_2021_09_01:721888002
  • UMLS_CUI:C1867020
has_exact_synonym
  • Finlay-Marks syndrome (en)
  • SENS (en)
  • Sen Syndrome (en)
  • hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in KCTD1 on chromosome 18q11.2.
is topic of
is annotatedSource of
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