| Metadata | |
|---|---|
| ID | DOID:0070723 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070723 Copy |
| Name | dyschromatosis, ichthyosis, deafness, and atopic disease |
| Definition | A syndrome characterized by generalized hyperpigmentation with hypopigmented spots, ichthyosis, sensorineural hearing loss, atopic dermatitis, asthma, and allergic rhinitis that has_material_basis_in compound heterozygous mutation in the OSBPL2 gene on chromosome 20q13. https://pubmed.ncbi.nlm.nih.gov/38701954/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621400 |
| Subsets |
DO_rare_slim |
| Synonyms |
DIDA [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |