loading...| Preferred Name |
X-linked ichthyosis |
| Synonyms |
X-linked placental steryl-sulphatase deficiency |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_1700 |
| comment |
OMIM mapping confirmed by DO. [LS]. |
| database_cross_reference |
OMIM:308100 SNOMEDCT_US_2020_03_01:72523005 NCI:C84779 UMLS_CUI:C0079588 GARD:7904 MESH:D016114 ICD10CM:Q80.1 |
| has exact synonym |
X-linked placental steryl-sulphatase deficiency X-linked ichthyosis with steryl-sulphatase deficiency X-linked recessive ichthyosis |
| id |
DOID:1700 |
| in_subset | |
| label |
X-linked ichthyosis |
| notation |
DOID:1700 |
| prefLabel |
X-linked ichthyosis |
| textual definition |
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. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |