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Combined Or Isolated Pituitary Growth Hormone Deficiency 7

Disease ID: disease_node_19695

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DbxrefMIM:618160
SubclassofDOID_9410, DOID_0050737
Data SourceDOID
SynonymsIGHD5, Isolated growth hormone deficiency type V
Doid Labelcombined or isolated pituitary growth hormone deficiency 7
Doid DescriptionA combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_19695
Doid IdDOID_0061016
LabelCombined Or Isolated Pituitary Growth Hormone Deficiency 7