Search Ontology:
Human Disease

dyschromatosis, ichthyosis, deafness, and atopic disease

Term ID
DOID:0070723
Synonyms
  • DIDA
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/
References
Ontology
Human Disease   ( DOID:0070723 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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