Metadata | |
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ID | DOID:0061016 |
Name | combined or isolated pituitary growth hormone deficiency 7 |
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/ |
Xrefs | |
Synonyms |
IGHD5 [EXACT] Isolated growth hormone deficiency type V [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |