Version: 8.0.0Date: Tue Jan 28 2025
Disease
Source: DOID:0110525
Definition: An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21.
Genes: loxhd1b (Dre)...loxhd1.L (Xla)...Loxhd1 (Rno)...Loxhd1 (Mmu)...LOXHD1 (Hsa)
Disease
Source: DOID:11555
Definition: A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.
Genes: loxhd1.L (Xla)...loxhd1b (Dre)...LOXHD1 (Hsa)...loxhd1a (Dre)...Loxhd1 (Rno)
Disease
Source: DOID:0050567
Definition: A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.
Genes: loxhd1b (Dre)...LOXHD1 (Hsa)...Loxhd1 (Rno)...Loxhd1 (Mmu)...loxhd1a (Dre)