Preferred Name

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1

Synonyms

EHLERS-DANLOS SYNDROME, TYPE VI

ID

http://purl.bioontology.org/ontology/OMIM/225400

altLabel

EHLERS-DANLOS SYNDROME, TYPE VI

NEVO SYNDROME

EHLERS-DANLOS SYNDROME, TYPE VIA, FORMERLY

EDS6A, FORMERLY

EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE

EDS6

EDS VI

cui

C0268342

C2936777

Gene Locus

1p36.3-p36.2

Gene Symbol

PLOD1

EDSKCL1

LH1

LLH

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU027959

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU036449

http://purl.bioontology.org/ontology/OMIM/MTHU013202

http://purl.bioontology.org/ontology/OMIM/MTHU013206

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU013209

http://purl.bioontology.org/ontology/OMIM/MTHU013204

http://purl.bioontology.org/ontology/OMIM/MTHU004831

http://purl.bioontology.org/ontology/OMIM/MTHU013214

http://purl.bioontology.org/ontology/OMIM/MTHU037032

http://purl.bioontology.org/ontology/OMIM/MTHU013212

http://purl.bioontology.org/ontology/OMIM/MTHU013210

http://purl.bioontology.org/ontology/OMIM/MTHU037097

http://purl.bioontology.org/ontology/OMIM/MTHU036426

http://purl.bioontology.org/ontology/OMIM/MTHU000607

http://purl.bioontology.org/ontology/OMIM/MTHU007296

http://purl.bioontology.org/ontology/OMIM/MTHU037411

http://purl.bioontology.org/ontology/OMIM/MTHU001153

http://purl.bioontology.org/ontology/OMIM/MTHU012986

http://purl.bioontology.org/ontology/OMIM/MTHU012423

http://purl.bioontology.org/ontology/OMIM/MTHU013208

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU000449

http://purl.bioontology.org/ontology/OMIM/MTHU036699

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU013213

http://purl.bioontology.org/ontology/OMIM/MTHU013203

http://purl.bioontology.org/ontology/OMIM/MTHU013207

http://purl.bioontology.org/ontology/OMIM/MTHU013205

http://purl.bioontology.org/ontology/OMIM/MTHU007724

http://purl.bioontology.org/ontology/OMIM/MTHU013211

http://purl.bioontology.org/ontology/OMIM/MTHU001148

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000604

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU007720

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU001370

http://purl.bioontology.org/ontology/OMIM/MTHU001151

http://purl.bioontology.org/ontology/OMIM/MTHU036366

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

601451

notation

225400

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/RCD/PGy25 Read Codes, Clinical Terms Version 3 (CTV3) CUI
http://purl.bioontology.org/ontology/SCTSPA/718211004 SNOMED Terminos Clinicos CUI
http://purl.bioontology.org/ontology/SNMI/D6-90160 Systematized Nomenclature of Medicine, International Version CUI
http://purl.bioontology.org/ontology/MESH/C536198 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C536113 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/SNOMEDCT/25606004 SNOMED CT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/718211004 SNOMED CT CUI
http://purl.bioontology.org/ontology/SCTSPA/25606004 SNOMED Terminos Clinicos CUI