WormBase Tree Display for DO_term: DOID:0080734
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| DOID:0080734 | Name | Ehlers-Danlos syndrome kyphoscoliotic type 1 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. | ||||
| Parent | Is_a | DOID:13359 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 225400 | |
| Attribute_of | Gene_by_orthology | WBGene00002497 |
