- Peters anomaly [DOID:0060673]
A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.
- hypospadias [DOID:10892]
A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
- alopecia areata [DOID:986]
An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
- Joubert syndrome 24 [DOID:0110993]
A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24.