has material basis in germline mutation in PLOD1 eye disorder autosomal recessive disease Ehlers-Danlos syndrome, kyphoscoliotic type 1 https://github.com/monarch-initiative/mondo/issues/4220 https://github.com/monarch-initiative/mondo/issues/4918 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6751 https://www.malacards.org/card/ehlers_danlos_syndrome_kyphoscoliotic_type_1 OMIM:225400 kyphoscoliotic EDS 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) EDS, kyphoscoliotic type MONDO:0016002 MESH:C536198 Ehlers-Danlos syndrome, type VI EDSKSCL1 Ehlers-Danlos syndrome, oculoscoliotic type Ehlers-Danlos syndrome, type VIA Ehlers-Danlos syndrome, type Via Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome, kyphoscoliotic type EDS6 EDS6A, formerly EDS, oculoscoliotic type Ehlers-Danlos syndrome oculoscoliotic type UMLS:C0268342 Ehlers-Danlos syndrome, type VIA, formerly Ehlers-Danlos syndrome, ocular-scoliotic type Ehlers-Danlos syndrome, type 6 A NCIT:C125700 NANDO:2201259 Orphanet:1900 Ehlers-Danlos syndrome, type 6 kEDS EDS 6 SCTID:718211004 nevo syndrome kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency Ehlers-Danlos syndrome type 6A (formerly) GARD:0022216 Ehlers-Danlos syndrome type 6 (formerly) EDS 6 (formerly) DOID:0080734 EDS VIA MEDGEN:75672 EDS VI Ehlers-Danlos syndrome kyphoscoliotic type A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. Ehlers-Danlos syndrome type 6A Ehlers-Danlos syndrome, type Via, formerly NANDO:1200649 kyphoscoliotic Ehlers-Danlos syndrome Ehlers-Danlos syndrome, kyphoscoliosis type Ehlers-Danlos syndrome hereditary disorder of connective tissue