Ichthyosis Bullosa Of Siemens
Disease ID: disease_node_11724
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| Dbxref | GARD:2966, MESH:D053560, MIM:146800, NCI:C84777, ORDO:455, SNOMEDCT_US_2023_03_01:254169002, UMLS_CUI:C0432306 |
|---|---|
| Subclassof | DOID_0050736, DOID_1697 |
| Data Source | DOID, MESH |
| Synonyms | bullous type ichthyosis, ichthyosis bullosa of Siemens, superficial epidermolytic ichthyosis |
| Mesh Id | D053560 |
| Mesh Label | Ichthyosis Bullosa of Siemens |
| Mesh Subclassof | D012873, D007057 |
| Doid Label | bullous congenital ichthyosiform erythroderma |
| Doid Description | An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_11724 |
| Doid Id | DOID_0060877 |
| Label | Ichthyosis Bullosa Of Siemens |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ichthyosis(ID:disease_node_4236) (Disease)