Terminology Service for NFDI4Health

Rieger Syndrome Type 1

Go to external page 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