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Digital medicine Outcomes Value Set (DOVeS) Ontology
| Preferred Name | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| Synonyms |
Ehlers-Danlos syndrome, type VIA, formerly Ehlers-Danlos syndrome, type Via, formerly EDS VIA Ehlers-Danlos syndrome, type Via Ehlers-Danlos syndrome type 6A Ehlers-Danlos syndrome, type VIA Ehlers-Danlos syndrome type 6A (formerly) kyphoscoliotic Ehlers-Danlos syndrome Ehlers-Danlos syndrome, type 6 A Ehlers-Danlos syndrome oculoscoliotic type Ehlers-Danlos syndrome type 6 (formerly) EDS 6 (formerly) EDSKSCL1 kyphoscoliotic EDS Ehlers-Danlos syndrome, type VI Ehlers-Danlos syndrome, kyphoscoliosis type kEDS Ehlers-Danlos syndrome, ocular-scoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type, 1 EDS VI EDS6A, formerly Ehlers-Danlos syndrome, oculoscoliotic type EDS, oculoscoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome, type 6 nevo syndrome EDS 6 Ehlers-Danlos syndrome, kyphoscoliotic type EDS6 EDS, kyphoscoliotic type kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency Ehlers-Danlos syndrome kyphoscoliotic type |
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| Definitions |
A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0016002 |
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| altLabel |
Ehlers-Danlos syndrome, type VIA, formerly Ehlers-Danlos syndrome, type Via, formerly EDS VIA Ehlers-Danlos syndrome, type Via Ehlers-Danlos syndrome type 6A Ehlers-Danlos syndrome, type VIA Ehlers-Danlos syndrome type 6A (formerly) kyphoscoliotic Ehlers-Danlos syndrome Ehlers-Danlos syndrome, type 6 A Ehlers-Danlos syndrome oculoscoliotic type Ehlers-Danlos syndrome type 6 (formerly) EDS 6 (formerly) EDSKSCL1 kyphoscoliotic EDS Ehlers-Danlos syndrome, type VI Ehlers-Danlos syndrome, kyphoscoliosis type kEDS Ehlers-Danlos syndrome, ocular-scoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type, 1 EDS VI EDS6A, formerly Ehlers-Danlos syndrome, oculoscoliotic type EDS, oculoscoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome, type 6 nevo syndrome EDS 6 Ehlers-Danlos syndrome, kyphoscoliotic type EDS6 EDS, kyphoscoliotic type kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency Ehlers-Danlos syndrome kyphoscoliotic type
|
|
| definition |
A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
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| has_exact_synonym |
Ehlers-Danlos syndrome, oculoscoliotic type EDS, oculoscoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome, type 6 nevo syndrome EDS 6 Ehlers-Danlos syndrome, kyphoscoliotic type EDS6 EDS, kyphoscoliotic type kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency Ehlers-Danlos syndrome kyphoscoliotic type
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| has_narrow_synonym |
Ehlers-Danlos syndrome, type VIA, formerly Ehlers-Danlos syndrome, type Via, formerly EDS VIA Ehlers-Danlos syndrome, type Via Ehlers-Danlos syndrome type 6A Ehlers-Danlos syndrome, type VIA
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| has_related_synonym |
Ehlers-Danlos syndrome type 6A (formerly) kyphoscoliotic Ehlers-Danlos syndrome Ehlers-Danlos syndrome, type 6 A Ehlers-Danlos syndrome oculoscoliotic type Ehlers-Danlos syndrome type 6 (formerly) EDS 6 (formerly) EDSKSCL1 kyphoscoliotic EDS Ehlers-Danlos syndrome, type VI Ehlers-Danlos syndrome, kyphoscoliosis type kEDS Ehlers-Danlos syndrome, ocular-scoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type, 1 EDS VI EDS6A, formerly
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| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/4220 |
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| label |
Ehlers-Danlos syndrome, kyphoscoliotic type 1
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| prefixIRI |
MONDO:0016002
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| prefLabel |
Ehlers-Danlos syndrome, kyphoscoliotic type 1
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| textual definition |
A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0023603 http://purl.obolibrary.org/obo/MONDO_0006025 http://purl.obolibrary.org/obo/MONDO_0800086 |
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