Pachyonychia Congenita
Disease ID: disease_node_11715
Connections displayed (default: 10).
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| Dbxref | GARD:10753, MESH:D053549, MIM:PS167200, NCI:C84986, ORDO:2309, SNOMEDCT_US_2023_03_01:39427000, UMLS_CUI:C0265334, UMLS_CUI:C1706595, UMLS_CUI:C1721007 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID, MESH |
| Synonyms | Jackson-Lawler Type Pachyonychia Congenita, Jadassohn-Lewandowsky Syndrome, PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE, Pachyonychia Congenita Type 1 |
| Mesh Id | D053549 |
| Mesh Label | Pachyonychia Congenita |
| Mesh Subclassof | D004476, D009260 |
| Doid Label | pachyonychia congenita |
| Doid Description | A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_11715 |
| Doid Id | DOID_0050449 |
| Label | Pachyonychia Congenita |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)