cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome

Term ID

DOID:0070789

Synonyms

• CAOP
• CAOP syndrome

Definition

A syndrome characterized by early-onset lens cataract, generalized nonscarring alopecia, oral mucosal disorder, and severe psoriasiform skin lesions affecting the scalp, facial, inguinal region, buttocks and lower extremities that has_material_basis_in compound heterozygous mutation in the MBTPS1 gene on chromosome 1p21. https://pubmed.ncbi.nlm.nih.gov/35362222/

References

• MIM:621252
• UMLS_CUI:C6012743

Ontology

Human Disease   ( DOID:0070789 )