Phenotypes associated with the disease congenital hereditary endothelial dystrophy of cornea (OMIM:217700):
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:16767101)
- Abnormal Descemet membrane morphology (HP:0011490): Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. Evidence: PCS. (PMID:16767101)
- Corneal dystrophy (HP:0001131): The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:16767101)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:16767101)
- Increased corneal thickness (HP:0011487): A increased anteroposterior thickness of the cornea. Evidence: PCS. (PMID:16767101)