Disease

combined or isolated pituitary growth hormone deficiency 7

Name: combined or isolated pituitary growth hormone deficiency 7
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0061016 combined or isolated pituitary growth hormone deficiency 7 A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21. Isolated growth hormone deficiency type V IGHD5

Definition

A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21.

Synonyms

IGHD5
Isolated growth hormone deficiency type V

Cross References

MIM:618160

Parent Terms

autosomal recessive disease
combined pituitary hormone deficiency

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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