Metadata | |
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ID | DOID:0061020 |
Name | combined pituitary hormone deficiency 2 |
Definition | A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35. https://pubmed.ncbi.nlm.nih.gov/9462743/ |
Xrefs | |
Synonyms |
CPHD2 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |