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