About: Smith-Lemli-Opitz Syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Smith-Lemli-Opitz Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Smith-Lemli-Opitz Syndrome
UMLS_CUI
  • C0175694
Contributing_Source
  • NICHD
FULL_SYN
  • Smith-Lemli-Opitz SyndromePTNCI
  • Smith-Lemli-Opitz SyndromePTNICHD
DEFINITION
  • A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present.NCI
code
  • C85071
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