Metadata | |
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ID | DOID:0061018 |
Name | combined or isolated pituitary hormone deficiency 8 |
Definition | A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12. https://pubmed.ncbi.nlm.nih.gov/28402530/ |
Xrefs | |
Synonyms |
CPHD8 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |