Rieger Syndrome Type 1
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http://purl.obolibrary.org/obo/NCIT_C75015
A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth. [ ]
Term info
Label
Rieger Syndrome Type 1
Synonyms
- Rieger Syndrome Type 1
Legacy Concept Name
Rieger_Syndrome_Type_1
Preferred Name
Rieger Syndrome Type 1
Semantic Type
Disease or Syndrome
UMLS CUI
C3714873
code
C75015
Term relations
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