Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

ARTHROGRYPOSIS, DISTAL, TYPE 2A

Synonyms

CRANIOCARPOTARSAL DYSPLASIA

ID

http://purl.bioontology.org/ontology/OMIM/193700

altLabel

CRANIOCARPOTARSAL DYSPLASIA

FREEMAN-SHELDON SYNDROME

WHISTLING FACE-WINDMILL VANE HAND SYNDROME

DA2A

FSS

CRANIOCARPOTARSAL DYSTROPHY

cui

C0265224

Gene Locus

17p13.1

Gene Symbol

DA2B

MYH3

DA2A

DA8

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000565

http://purl.bioontology.org/ontology/OMIM/MTHU027572

http://purl.bioontology.org/ontology/OMIM/MTHU003911

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU023761

http://purl.bioontology.org/ontology/OMIM/MTHU002677

http://purl.bioontology.org/ontology/OMIM/MTHU023121

http://purl.bioontology.org/ontology/OMIM/MTHU014967

http://purl.bioontology.org/ontology/OMIM/MTHU001751

http://purl.bioontology.org/ontology/OMIM/MTHU023765

http://purl.bioontology.org/ontology/OMIM/MTHU014961

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU002310

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU014963

http://purl.bioontology.org/ontology/OMIM/MTHU002110

http://purl.bioontology.org/ontology/OMIM/MTHU004564

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU008733

http://purl.bioontology.org/ontology/OMIM/MTHU000324

http://purl.bioontology.org/ontology/OMIM/MTHU005905

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU005820

http://purl.bioontology.org/ontology/OMIM/MTHU023763

http://purl.bioontology.org/ontology/OMIM/MTHU014965

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

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU036568

http://purl.bioontology.org/ontology/OMIM/MTHU007235

http://purl.bioontology.org/ontology/OMIM/MTHU002016

http://purl.bioontology.org/ontology/OMIM/MTHU037200

http://purl.bioontology.org/ontology/OMIM/MTHU036440

http://purl.bioontology.org/ontology/OMIM/MTHU002378

http://purl.bioontology.org/ontology/OMIM/MTHU036361

http://purl.bioontology.org/ontology/OMIM/MTHU027571

http://purl.bioontology.org/ontology/OMIM/MTHU002599

http://purl.bioontology.org/ontology/OMIM/MTHU014966

http://purl.bioontology.org/ontology/OMIM/MTHU005747

http://purl.bioontology.org/ontology/OMIM/MTHU023764

http://purl.bioontology.org/ontology/OMIM/MTHU023762

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU014962

http://purl.bioontology.org/ontology/OMIM/MTHU008738

http://purl.bioontology.org/ontology/OMIM/MTHU003098

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU000189

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

http://purl.bioontology.org/ontology/OMIM/MTHU012892

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

http://purl.bioontology.org/ontology/OMIM/MTHU037201

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

193700

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

ARTHROGRYPOSIS, DISTAL, TYPE 2A

tui

T047

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http://purl.bioontology.org/ontology/ICD10CM/Q87.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C535483 Medical Subject Headings CUI