Version: 8.0.0
Date: Tue Jan 28 2025
4 results
Disease Genes: Polr1D (Dme)

obesity

Disease
Source: DOID:9970
Definition: An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.
Genes: Polr1D (Dme)

leukodystrophy

Disease
Source: DOID:10579
Definition: A cerebral degeneration characterized by dysfunction of the white matter of the brain.
Genes: Polr1D (Dme)

Treacher Collins syndrome

Disease
Source: DOID:2908
Definition: A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
Genes: Polr1D (Dme)

Treacher Collins syndrome 2

Disease
Source: DOID:0080790
Definition: A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12.
Genes: Polr1D (Dme)