Phenotypes associated with the disease Dermochondrocorneal dystrophy (ORPHA:79149):
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79149)
- Xanthomatosis (HP:0000991): The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79149)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79149)
- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79149)
- Large hands (HP:0001176). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79149)
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79149)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79149)