combined or isolated pituitary hormone deficiency 1

Term ID

DOID:0061019

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. https://pubmed.ncbi.nlm.nih.gov/34270938/

References

MIM:613038

Ontology

Human Disease ( DOID:0061019 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease combined pituitary hormone deficiency

autosomal dominant disease autosomal recessive disease combined pituitary hormone deficiency Show first 5 Terms

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Genes Involved

Zebrafish Models