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About: corpus callosum agenesis-abnormal genitalia 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
  • corpus callosum agenesis-abnormal genitalia syndrome
described by
id
  • DOID:0112151
database_cross_reference
  • GARD:4528
  • OMIM:300004
  • ORDO:2508
has_exact_synonym
  • microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
  • ACC with abnormal genitalia
  • Proud syndrome
  • Proud-Levine-Carpenter syndrome
  • corpus callosum agenesis with abnormal genitalia
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.
is topic of
is annotatedSource of
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