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About: frontometaphyseal dysplasia     Goto   Sponge   Distinct   Permalink

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

AttributesValues
type
subClassOf
label
  • frontometaphyseal dysplasia
described by
id
  • DOID:0111785
database_cross_reference
  • GARD:826
  • MESH:C538064
  • OMIM:PS305620
  • ORDO:1826
  • SNOMEDCT_US_2021_09_01:62803002
  • UMLS_CUI:C0265293
has_exact_synonym
  • FMD
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss.
is subClassOf of
is topic of
is annotatedSource of
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