| Metadata | |
|---|---|
| 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 |