About: Autosomal Recessive Inheritance     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Autosomal Recessive Inheritance
rdfs:subClassOf
Semantic_Type
  • Functional Concept
Preferred_Name
  • Autosomal Recessive Inheritance
UMLS_CUI
  • C0441748
ALT_DEFINITION
  • Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).NCI-GLOSS
FULL_SYN
  • autosomal recessivePTNCI-GLOSSCDR0000339339
  • Autosomal Recessive InheritancePTNCI
code
  • C94246
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