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About: Melnick-Needles 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
  • Melnick-Needles syndrome
described by
id
  • DOID:0111788
database_cross_reference
  • GARD:7011
  • MEDDRA:10060908
  • MESH:D010009
  • OMIM:309350
  • ORDO:1826
  • SNOMEDCT_US_2021_09_01:13449007
  • UMLS_CUI:C0025237
has_exact_synonym
  • MNS
  • Melnick-Needles osteodysplasty
  • osteodysplasty of Melnick and Needles
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in FLNA on chromosome Xq28.
is topic of
is annotatedSource of
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