| Metadata | |
|---|---|
| ID | DOID:0070789 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070789 Copy |
| Name | cataract, alopecia, oral mucosal disorder, and psoriasis-like 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621252 exactMatch UMLS_CUI:C6012743 |
| Subsets |
DO_rare_slim |
| Synonyms |
CAOP [EXACT] CAOP syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |