Autosomal Domit Cutis Laxa 3
Disease ID: disease_node_17133
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| Dbxref | ICD10CM:Q82.8, MIM:616603 |
|---|---|
| Subclassof | DOID_0070142 |
| Data Source | DOID |
| Synonyms | ADCL3 |
| Doid Label | autosomal domit cutis laxa 3 |
| Doid Description | An autosomal domit cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. |
| Disease Node Id | disease_node_17133 |
| Doid Id | DOID_0070131 |
| Label | Autosomal Domit Cutis Laxa 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Cutis Laxa(ID:disease_node_17131) (Disease)