loading...| Preferred Name |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
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| Synonyms |
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 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, 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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| Definitions |
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163) 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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| comment |
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163) |
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| database_cross_reference |
DOID:0080734 NCIT:C125700 OMIM:225400 UMLS:C0268342 SCTID:718211004 MESH:C536198 GARD:22216 Orphanet:1900 |
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| 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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| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0268342 http://purl.obolibrary.org/obo/Orphanet_1900 http://identifiers.org/mesh/C536198 http://identifiers.org/snomedct/718211004 http://purl.obolibrary.org/obo/NCIT_C125700 |
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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 https://github.com/monarch-initiative/mondo/issues/4918 |
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| id |
MONDO:0016002 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar |
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| label |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
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| notation |
MONDO:0016002 |
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| prefLabel |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
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| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0003966 http://purl.obolibrary.org/obo/MONDO_0023603 |