combined or isolated pituitary growth hormone deficiency 7

Term ID

DOID:0061016

Synonyms

• IGHD5
• Isolated growth hormone deficiency type V

Definition

A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21. https://pubmed.ncbi.nlm.nih.gov/33650182/

References

• MIM:618160

Ontology

Human Disease   ( DOID:0061016 )