loading...| Preferred Name |
Ehlers-Danlos syndrome kyphoscoliotic type 1 |
|
| Synonyms |
|
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0080734 |
|
| database_cross_reference |
OMIM:225400 |
|
| 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. |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0080734 |
|
| label |
Ehlers-Danlos syndrome kyphoscoliotic type 1 |
|
| notation |
DOID:0080734 |
|
| prefLabel |
Ehlers-Danlos syndrome kyphoscoliotic type 1 |
|
| subClassOf |