Ichthyosis, X-Linked
Disease ID: disease_node_8600
Connections displayed (default: 10).
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| Dbxref | GARD:7904, ICD10CM:Q80.1, MESH:D016114, MIM:308100, NCI:C84779, SNOMEDCT_US_2023_03_01:72523005, UMLS_CUI:C0079588 |
|---|---|
| Subclassof | DOID_0080012, DOID_1697 |
| Data Source | DOID, MESH |
| Synonyms | X-linked ichthyosis with steryl-sulphatase deficiency, X-linked placental steryl-sulphatase deficiency, X-linked recessive ichthyosis |
| Mesh Id | D016114 |
| Mesh Label | Ichthyosis, X-Linked |
| Mesh Subclassof | D040181, D043202, D012873, D007057 |
| Doid Label | X-linked ichthyosis |
| Doid Description | An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22. OMIM mapping confirmed by DO. [LS]. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_8600 |
| Doid Id | DOID_1700 |
| Label | Ichthyosis, X-Linked |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis(ID:disease_node_4236) (Disease)