Terminology Service for NFDI4Health

Holoprosencephaly Type 2

Go to external page http://purl.obolibrary.org/obo/NCIT_C74995


A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene. [ ]

Term info

Label

Holoprosencephaly Type 2

Synonyms
  • Holoprosencephaly 2
  • Holoprosencephaly Type 2
Legacy Concept Name

Holoprosencephaly_Type_2

Preferred Name

Holoprosencephaly Type 2

Semantic Type

Disease or Syndrome

UMLS CUI

C1834877

code

C74995