Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
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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
Machine permutation

2011
MDA

20100625
MMR

20210630
MN

C16.131.621.906.819.428

C05.116.099.370.894.819.428

C05.660.585.800.428

C16.131.939.410

C12.200.706.410

C05.660.906.819.428

C12.800.410

C11.250.390

C12.050.351.875.397

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

T019

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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