Metadata | |
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ID | DOID:0090078 |
Name | hypogonadotropic hypogonadism 7 with or without anosmia |
Definition | A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. https://www.ncbi.nlm.nih.gov/pubmed/9371856, https://www.ncbi.nlm.nih.gov/pubmed/17235395 |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |