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Metadata
ID DOID:0061022
Name combined pituitary hormone deficiency 6
Definition A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q21.
https://pubmed.ncbi.nlm.nih.gov/18728160/
Xrefs

MIM:613986

Synonyms

CPHD6 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a combined pituitary hormone deficiency

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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