Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ARTHROGRYPOSIS, DISTAL, TYPE 2B
Synonyms

SHS
ID

http://purl.bioontology.org/ontology/OMIM/601680
altLabel

SHS

FSSV

DA2B

ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES

ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B

FREEMAN-SHELDON SYNDROME VARIANT

SHELDON-HALL SYNDROME
cui

C1834523
Gene Locus

11p15.5
Gene Symbol

FSSV

DA2B

AMCD2B

TNNT3
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU005817

http://purl.bioontology.org/ontology/OMIM/MTHU029203

http://purl.bioontology.org/ontology/OMIM/MTHU022515

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU005816

http://purl.bioontology.org/ontology/OMIM/MTHU022513

http://purl.bioontology.org/ontology/OMIM/MTHU005814

http://purl.bioontology.org/ontology/OMIM/MTHU000229

http://purl.bioontology.org/ontology/OMIM/MTHU005819

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

http://purl.bioontology.org/ontology/OMIM/MTHU029201

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

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU005822

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU020394

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU003574

http://purl.bioontology.org/ontology/OMIM/MTHU036626

http://purl.bioontology.org/ontology/OMIM/MTHU005815

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

http://purl.bioontology.org/ontology/OMIM/MTHU005818

http://purl.bioontology.org/ontology/OMIM/MTHU002163

http://purl.bioontology.org/ontology/OMIM/MTHU029204

http://purl.bioontology.org/ontology/OMIM/MTHU029202

http://purl.bioontology.org/ontology/OMIM/MTHU005821

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU022516

http://purl.bioontology.org/ontology/OMIM/MTHU022514

http://purl.bioontology.org/ontology/OMIM/MTHU036403

http://purl.bioontology.org/ontology/OMIM/MTHU005823
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

108130

108140
notation

601680
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ARTHROGRYPOSIS, DISTAL, TYPE 2B
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C538400 Medical Subject Headings CUI