Autosomal Recessive Cutis Laxa Type Iib
Disease ID: disease_node_17139
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q82.8, MIM:612940, ORDO:357064 |
|---|---|
| Subclassof | DOID_3144, DOID_0050737 |
| Data Source | DOID |
| Synonyms | ARCL2, progeroid type, ARCL2B |
| Doid Label | autosomal recessive cutis laxa type IIB |
| Doid Description | A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17139 |
| Doid Id | DOID_0070137 |
| Label | Autosomal Recessive Cutis Laxa Type Iib |
- Outgoing r'ship
SUBCLASS_OFto/from Cutis Laxa(ID:disease_node_2344) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)