loading...| Preferred Name | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| Synonyms |
Ehlers-Danlos syndrome, type VIA Ehlers-Danlos syndrome, type Via, formerly Ehlers-Danlos syndrome type 6A Ehlers-Danlos syndrome, type Via Ehlers-Danlos syndrome, type VIA, formerly EDS VIA kyphoscoliotic Ehlers-Danlos syndrome Ehlers-Danlos syndrome, ocular-scoliotic type Ehlers-Danlos syndrome type 6A (formerly) kyphoscoliotic EDS EDS6A, formerly Ehlers-Danlos syndrome oculoscoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos syndrome, kyphoscoliosis type Ehlers-Danlos syndrome type 6 (formerly) Ehlers-Danlos syndrome, type VI EDS 6 (formerly) Ehlers-Danlos syndrome, type 6 A EDS VI EDSKSCL1 kEDS EDS, kyphoscoliotic type nevo syndrome Ehlers-Danlos syndrome, oculoscoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type Ehlers-Danlos syndrome, type 6 EDS, oculoscoliotic type Ehlers-Danlos syndrome kyphoscoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type 1 kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency EDS 6 EDS6 |
|
| Definitions |
A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016002 |
|
| database_cross_reference |
OMIM:225400 MEDGEN:75672 MESH:C536198 NANDO:2201259 NCIT:C125700 Orphanet:1900 DOID:0080734 UMLS:C0268342 NANDO:1200649 SCTID:718211004 GARD:22216 |
|
| definition |
A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. |
|
| has_exact_synonym |
EDS, kyphoscoliotic type nevo syndrome Ehlers-Danlos syndrome, oculoscoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type Ehlers-Danlos syndrome, type 6 EDS, oculoscoliotic type Ehlers-Danlos syndrome kyphoscoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type 1 kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency EDS 6 EDS6 |
|
| has_narrow_synonym |
Ehlers-Danlos syndrome, type VIA Ehlers-Danlos syndrome, type Via, formerly Ehlers-Danlos syndrome type 6A Ehlers-Danlos syndrome, type Via Ehlers-Danlos syndrome, type VIA, formerly EDS VIA |
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| has_related_synonym |
kyphoscoliotic Ehlers-Danlos syndrome Ehlers-Danlos syndrome, ocular-scoliotic type Ehlers-Danlos syndrome type 6A (formerly) kyphoscoliotic EDS EDS6A, formerly Ehlers-Danlos syndrome oculoscoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos syndrome, kyphoscoliosis type Ehlers-Danlos syndrome type 6 (formerly) Ehlers-Danlos syndrome, type VI EDS 6 (formerly) Ehlers-Danlos syndrome, type 6 A EDS VI EDSKSCL1 kEDS |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/4220 https://github.com/monarch-initiative/mondo/issues/4918 |
|
| id |
MONDO:0016002 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_subtype_of_a_disorder |
|
| label |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
|
| notation |
MONDO:0016002 |
|
| preferred label |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
|
| prefLabel |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
|
| skos_exactMatch |
http://identifiers.org/medgen/75672 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 |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0003966 http://purl.obolibrary.org/obo/MONDO_0023603 |