Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Fraser Syndrome
Synonyms

Cryptophthalmos Syndactyly Syndrome
Definitions

Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.
ID

http://purl.bioontology.org/ontology/MESH/D058497
altLabel

Cryptophthalmos Syndactyly Syndrome

Syndrome, Fraser

Cryptophthalmos-Syndactyly Syndromes

Cryptophthalmos with Other Malformations

Cryptophthalmos-Syndactyly Syndrome
AN

do not confuse with FRASIER SYNDROME
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0265233
DC

1
definition

Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.
DX

20110101
FX

D052159
HN

2011
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D052159
Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D001816

http://purl.bioontology.org/ontology/MESH/D009394

http://purl.bioontology.org/ontology/MESH/D056889

http://purl.bioontology.org/ontology/MESH/D056732

http://purl.bioontology.org/ontology/MESH/D054514

http://purl.bioontology.org/ontology/MESH/D004479

http://purl.bioontology.org/ontology/MESH/D000073839

http://purl.bioontology.org/ontology/MESH/D016878

http://purl.bioontology.org/ontology/MESH/D009958

http://purl.bioontology.org/ontology/MESH/D058165

http://purl.bioontology.org/ontology/MESH/D056733

http://purl.bioontology.org/ontology/MESH/D064749

http://purl.bioontology.org/ontology/MESH/D059446

http://purl.bioontology.org/ontology/MESH/D044542

http://purl.bioontology.org/ontology/MESH/D007021

http://purl.bioontology.org/ontology/MESH/D000072661

http://purl.bioontology.org/ontology/MESH/D003456

http://purl.bioontology.org/ontology/MESH/D000168

http://purl.bioontology.org/ontology/MESH/D015792

http://purl.bioontology.org/ontology/MESH/D004476

http://purl.bioontology.org/ontology/MESH/D008850

http://purl.bioontology.org/ontology/MESH/D056846

http://purl.bioontology.org/ontology/MESH/D004314

http://purl.bioontology.org/ontology/MESH/D058495

http://purl.bioontology.org/ontology/MESH/D019082

http://purl.bioontology.org/ontology/MESH/D016738

http://purl.bioontology.org/ontology/MESH/D017204

http://purl.bioontology.org/ontology/MESH/D009261

http://purl.bioontology.org/ontology/MESH/D016715

http://purl.bioontology.org/ontology/MESH/D021782

http://purl.bioontology.org/ontology/MESH/D016569

http://purl.bioontology.org/ontology/MESH/D009800

http://purl.bioontology.org/ontology/MESH/D019280

http://purl.bioontology.org/ontology/MESH/D056685

http://purl.bioontology.org/ontology/MESH/D007849

http://purl.bioontology.org/ontology/MESH/D012779

http://purl.bioontology.org/ontology/MESH/D056770

http://purl.bioontology.org/ontology/MESH/D056731

http://purl.bioontology.org/ontology/MESH/D054975

http://purl.bioontology.org/ontology/MESH/D003103

http://purl.bioontology.org/ontology/MESH/D020331

http://purl.bioontology.org/ontology/MESH/D004842

http://purl.bioontology.org/ontology/MESH/D056730

http://purl.bioontology.org/ontology/MESH/D058747

http://purl.bioontology.org/ontology/MESH/D015211

http://purl.bioontology.org/ontology/MESH/D058502

http://purl.bioontology.org/ontology/MESH/D058496

http://purl.bioontology.org/ontology/MESH/D007690

http://purl.bioontology.org/ontology/MESH/D003057

http://purl.bioontology.org/ontology/MESH/D056830

http://purl.bioontology.org/ontology/MESH/D000075529

http://purl.bioontology.org/ontology/MESH/D014548

http://purl.bioontology.org/ontology/MESH/D000073842

http://purl.bioontology.org/ontology/MESH/D001506

http://purl.bioontology.org/ontology/MESH/D001478

http://purl.bioontology.org/ontology/MESH/D011045

http://purl.bioontology.org/ontology/MESH/D005736

http://purl.bioontology.org/ontology/MESH/D016142

http://purl.bioontology.org/ontology/MESH/D007184

http://purl.bioontology.org/ontology/MESH/D015783

http://purl.bioontology.org/ontology/MESH/D012734

http://purl.bioontology.org/ontology/MESH/D006871

http://purl.bioontology.org/ontology/MESH/D014849

http://purl.bioontology.org/ontology/MESH/D000853

http://purl.bioontology.org/ontology/MESH/D054062

http://purl.bioontology.org/ontology/MESH/D000069337

http://purl.bioontology.org/ontology/MESH/D003635

http://purl.bioontology.org/ontology/MESH/D054463

http://purl.bioontology.org/ontology/MESH/D011218

http://purl.bioontology.org/ontology/MESH/D055947

http://purl.bioontology.org/ontology/MESH/D054877

http://purl.bioontology.org/ontology/MESH/D001746

http://purl.bioontology.org/ontology/MESH/D011535

http://purl.bioontology.org/ontology/MESH/D058536

http://purl.bioontology.org/ontology/MESH/D056734

http://purl.bioontology.org/ontology/MESH/D054000

http://purl.bioontology.org/ontology/MESH/D012410

http://purl.bioontology.org/ontology/MESH/D003410

http://purl.bioontology.org/ontology/MESH/D012415

http://purl.bioontology.org/ontology/MESH/D008382
Machine permutation

2011
MDA

20100625
MMR

20160226
MN

C16.131.621.906.819.428

C05.116.099.370.894.819.428

C05.660.585.800.428

C16.131.939.410

C12.706.410

C13.351.875.397

C05.660.906.819.428

C11.250.390

C16.131.621.585.800.428

C16.131.384.442

C16.131.077.371
notation

D058497
prefLabel

Fraser Syndrome
TERMUI

T782916

T764515

T764514
TH

NLM (2011)

NLM (2012)

ORD (2010)

OMIM (2013)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D005124

http://purl.bioontology.org/ontology/MESH/D014564

http://purl.bioontology.org/ontology/MESH/D013576

http://purl.bioontology.org/ontology/MESH/D000015
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http://purl.bioontology.org/ontology/OMIM/607830 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/OMIM/219000 Online Mendelian Inheritance in Man CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118436 National Cancer Institute Thesaurus LOOM
http://purl.obolibrary.org/obo/DOID_0090001 Human Disease Ontology 123 LOOM