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Metadata
ID DOID:0061242
PURL http://purl.obolibrary.org/obo/DOID_0061242 Copy
Name glucocorticoid deficiency 2
Definition A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the MRAP gene, encoding melanocortin-2 receptor accessory protein, on chromosome 21q22.
https://pubmed.ncbi.nlm.nih.gov/15654338/
Xrefs

MIM:607398

Parent Relationships

is_a autosomal recessive disease

is_a familial glucocorticoid deficiency

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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