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

AttributesValues
type
subClassOf
label
  • nonsyndromic congenital nail disorder 4
described by
id
  • DOID:0080082
created_by
  • lschriml
creation_date
  • 2015-11-09T15:18:20Z
has_alternative_id
  • DOID:0050643
database_cross_reference
  • GARD:12930
  • MESH:C536377
  • OMIM:206800
has_exact_synonym
  • HYPONYCHIA CONGENITA (en)
  • anonychia congenita (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.
is topic of
is annotatedSource of
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