Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
Preferred Name

Orofaciodigital Syndromes

Synonyms

Papillon-Leage and Psaume Syndrome

Definitions

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

ID

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

altLabel

Papillon-Leage and Psaume Syndrome

Gorlin-Psaume Syndrome

Oral-Facial-Digital Syndrome

Orofaciodigital Syndrome I

Dysplasia Linguofacialis

Syndromes, Orofaciodigital

Oral-Facial-Digital Syndrome, Type II

Papillon Leage and Psaume Syndrome

Orofaciodigital Syndrome Is

Oral-Facial-Digital Syndrome, Type I

Orodigitofacial Syndrome

Oral Facial Digital Syndrome, Type II

Oro-Facio-Digital Syndrome

Mohr Syndrome

Oral Facial Digital Syndrome, Type I

Orodigitofacial Dysostosis

Orofaciodigital Syndrome

Syndrome, Orofaciodigital

Syndrome, Mohr

Gorlin Psaume Syndrome

Orofaciodigital Syndrome II

Syndrome, Gorlin-Psaume

Orofaciodigital Syndrome IIs

AN

do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

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

C0029294

C1510460

C0026363

DC

1

definition

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

DX

19910101

HN

79; was OROFACIODIGITAL SYNDROME see under ABNORMALITIES, MULTIPLE 1975-78; was OROFACIODIGITAL SYNDROME 1964-74 (Prov)

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

Machine permutation

79; was OROFACIODIGITAL SYNDROME see under ABNORMALITIES, MULTIPLE 1975-78

Mapped from

http://purl.bioontology.org/ontology/MESH/C537134

http://purl.bioontology.org/ontology/MESH/C557821

http://purl.bioontology.org/ontology/MESH/C557818

http://purl.bioontology.org/ontology/MESH/C563491

http://purl.bioontology.org/ontology/MESH/C557817

http://purl.bioontology.org/ontology/MESH/C537133

http://purl.bioontology.org/ontology/MESH/C536531

http://purl.bioontology.org/ontology/MESH/C557820

http://purl.bioontology.org/ontology/MESH/C563104

http://purl.bioontology.org/ontology/MESH/C548035

http://purl.bioontology.org/ontology/MESH/C538585

http://purl.bioontology.org/ontology/MESH/C557819

http://purl.bioontology.org/ontology/MESH/C537690

http://purl.bioontology.org/ontology/MESH/C548034

MDA

19990101

MMR

20160630

MN

C16.131.077.676

C16.131.260.830.670

C16.131.621.207.700

C05.116.099.370.652

C05.660.207.700

C16.320.714

C16.320.180.830.670

notation

D009958

OL

use OROFACIODIGITAL SYNDROMES to search OROFACIODIGITAL SYNDROME 1966-78(as Prov 1966-74)

prefLabel

Orofaciodigital Syndromes

TERMUI

T842207

T842210

T029455

T812563

T842206

T029457

T029454

T824584

T812562

T029456

T842209

T824583

T842211

T842208

TH

UNK (19XX)

NLM (1964)

NLM (2014)

ORD (2010)

OMIM (2013)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D019465

http://purl.bioontology.org/ontology/MESH/D030342

http://purl.bioontology.org/ontology/MESH/D004413

http://purl.bioontology.org/ontology/MESH/D000015

http://purl.bioontology.org/ontology/MESH/D025064

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/300170 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/OMIM/311200 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/252100 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI