Phenotypes associated with the disease dermochondrocorneal dystrophy (OMIM:221800):
- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: IEA. (OMIM:221800)
- Joint subluxation (HP:0032153): A partial dislocation of a joint. Evidence: IEA. (OMIM:221800)
- 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: IEA. (OMIM:221800)
- Irregular tarsal ossification (HP:0008134): Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. Evidence: IEA. (OMIM:221800)
- 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: IEA. (OMIM:221800)
- Anterior cortical cataract (HP:0007795): A cataract that affects the anterior part of the cortex of the lens. Evidence: IEA. (OMIM:221800)
- Skin nodule (HP:0200036): Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. Evidence: IEA. (OMIM:221800)
- Subepithelial corneal opacities (HP:0008039). Evidence: IEA. (OMIM:221800)
- Gingival overgrowth (HP:0000212): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: IEA. (OMIM:221800)