Term Name: combined or isolated pituitary growth hormone deficiency 7
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.
Ontology: Human Disease [DOID:0061016]   ( DOID:0061016 )

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