Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
Synonyms

EDS VII, MUTANT PROCOLLAGEN TYPE
ID

http://purl.bioontology.org/ontology/OMIM/130060
altLabel

EDS VII, MUTANT PROCOLLAGEN TYPE

EHLERS-DANLOS SYNDROME, TYPE VIIA, AUTOSOMAL DOMINANT

EDS7A

EDSARTH1

EDS VIIA

ARTHROCHALASIS MULTIPLEX CONGENITA
cui

C4551623
Gene Locus

17q21.31-q22
Gene Symbol

OI2

COL1A1

OI4

OI1

OI3

EDSARTH1

CAFYD
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU007831

http://purl.bioontology.org/ontology/OMIM/MTHU026997

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

http://purl.bioontology.org/ontology/OMIM/MTHU013220

http://purl.bioontology.org/ontology/OMIM/MTHU000028

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000031

http://purl.bioontology.org/ontology/OMIM/MTHU013842

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU018390

http://purl.bioontology.org/ontology/OMIM/MTHU018404

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

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU018403

http://purl.bioontology.org/ontology/OMIM/MTHU018402

http://purl.bioontology.org/ontology/OMIM/MTHU001947

http://purl.bioontology.org/ontology/OMIM/MTHU018401
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

130060
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
Scope Statement

Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, 120150.0026) [MOLECULAR BASIS]
tui

T047
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