Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Pierre Robin Syndrome
Synonyms

Sequence, Pierre Robin's
Definitions

Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.
ID

http://purl.bioontology.org/ontology/MESH/D010855
altLabel

Sequence, Pierre Robin's

Sequence, Pierre Robin

Pierre Robin's Sequence

Robin Sequence

Pierre Robin Sequence

Sequence, Robin

Pierre Robins Sequence

Syndrome, Pierre Robin

Robin Syndrome, Pierre

Syndrome, Pierre-Robin

Glossoptosis, Micrognathia, and Cleft Palate

Pierre-Robin Syndrome
AN

named for French dentist Pierre Robin: Robin is his surname; note: no hyphen
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

C0031900
DC

1
definition

Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.
DX

19650101
FX

D055758

D055036

D050030
HN

65(64)
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/D055758

http://purl.bioontology.org/ontology/MESH/D050030

http://purl.bioontology.org/ontology/MESH/D055036
Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D002972

http://purl.bioontology.org/ontology/MESH/D011378

http://purl.bioontology.org/ontology/MESH/D008844

http://purl.bioontology.org/ontology/MESH/D063173
Machine permutation

65
Mapped from

http://purl.bioontology.org/ontology/MESH/C537916

http://purl.bioontology.org/ontology/MESH/C563127

http://purl.bioontology.org/ontology/MESH/C535677

http://purl.bioontology.org/ontology/MESH/C563880

http://purl.bioontology.org/ontology/MESH/C536261

http://purl.bioontology.org/ontology/MESH/C535776

http://purl.bioontology.org/ontology/MESH/C536537

http://purl.bioontology.org/ontology/MESH/C564078

http://purl.bioontology.org/ontology/MESH/C567446

http://purl.bioontology.org/ontology/MESH/C536942

http://purl.bioontology.org/ontology/MESH/C535775

http://purl.bioontology.org/ontology/MESH/C537497

http://purl.bioontology.org/ontology/MESH/C535688

http://purl.bioontology.org/ontology/MESH/C537232

http://purl.bioontology.org/ontology/MESH/C535347

http://purl.bioontology.org/ontology/MESH/C536898

http://purl.bioontology.org/ontology/MESH/C536102
MDA

19990101
MMR

20140613
MN

C05.660.207.540.460.606

C16.131.621.207.540.460.606

C05.500.460.606

C07.320.440.606

C07.650.500.460.606

C16.131.850.500.460.606
notation

D010855
prefLabel

Pierre Robin Syndrome
TERMUI

T032005

T781820

T032004

T781821

T797960

T853631
TH

NLM (2013)

NLM (2015)

UNK (19XX)

NLM (1964)

NLM (2012)

ORD (2010)

OMIM (2013)
tui

T019
subClassOf

http://purl.bioontology.org/ontology/MESH/D007569
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