Term Name: | combined or isolated pituitary hormone deficiency 1 |
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Synonyms: | CPHD1 |
Definition: | A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11. |
Ontology: | Human Disease [DOID:0061019] ( DOID:0061019 ) |