Visualize Submit Comment

Metadata
ID	DOID:0061019
Name	combined or isolated pituitary hormone deficiency 1
Definition	A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11. https://pubmed.ncbi.nlm.nih.gov/34270938/
Xrefs	MIM:613038
Synonyms	CPHD1 [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a combined pituitary hormone deficiency is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance