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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

MIM:618160

Synonyms

IGHD5 [EXACT]

Isolated growth hormone deficiency type V [EXACT]

Parent Relationships

is_a combined pituitary hormone deficiency

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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