Terminology Service for NFDI4Health
Holoprosencephaly Type 4
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http://purl.obolibrary.org/obo/NCIT_C75475
A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis. [ ]
Term info
Label
Holoprosencephaly Type 4
Synonyms
- Holoprosencephaly 4
- Holoprosencephaly Type 4
Legacy Concept Name
Holoprosencephaly_Type_4
Preferred Name
Holoprosencephaly Type 4
Semantic Type
Disease or Syndrome
UMLS CUI
C1840528
code
C75475
Term relations
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