Term Name: | combined or isolated pituitary growth hormone deficiency 7 |
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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 ) |