Medical Subject Headings

Last uploaded: November 5, 2019
Preferred Name

Basal Cell Nevus Syndrome

Synonyms

Fifth Phacomatoses

Definitions

Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.

ID

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

altLabel

Fifth Phacomatoses

Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies

Gorlin Syndrome

Syndrome, Gorlin-Goltz

Gorlin-Goltz Syndrome

NBCCS

Fifth Phacomatosis

Gorlin Goltz Syndrome

Syndrome, Gorlin

Nevus Syndrome, Basal Cell

Nevoid Basal Cell Carcinoma Syndrome

AN

coordinate IM with precoordinated organ/neoplasm (IM or NIM) only if pertinent; do not confuse entry term GORLIN-GOLTZ SYNDROME with GOLTZ- GORLIN SYNDROME see FOCAL DERMAL HYPOPLASIA

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

C0004779

DC

1

definition

Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.

DX

19910101

HN

91(80); was see under CARCINOMA, BASAL CELL 1980-90

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 SIB

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

http://purl.bioontology.org/ontology/MESH/D010985

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

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

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/D061325

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

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

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

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

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

http://purl.bioontology.org/ontology/MESH/D005877

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

http://purl.bioontology.org/ontology/MESH/D003803

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/D010009

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/D009396

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/D017253

http://purl.bioontology.org/ontology/MESH/D016864

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

http://purl.bioontology.org/ontology/MESH/D014402

http://purl.bioontology.org/ontology/MESH/D006223

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

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

http://purl.bioontology.org/ontology/MESH/D058249

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/D004413

http://purl.bioontology.org/ontology/MESH/D004416

http://purl.bioontology.org/ontology/MESH/D010509

http://purl.bioontology.org/ontology/MESH/D003123

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

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

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

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

http://purl.bioontology.org/ontology/MESH/D005097

http://purl.bioontology.org/ontology/MESH/D004392

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

http://purl.bioontology.org/ontology/MESH/D030981

http://purl.bioontology.org/ontology/MESH/D009377

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

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

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

http://purl.bioontology.org/ontology/MESH/D007870

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

http://purl.bioontology.org/ontology/MESH/D011125

http://purl.bioontology.org/ontology/MESH/D018333

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/D010015

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

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

http://purl.bioontology.org/ontology/MESH/D066166

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

http://purl.bioontology.org/ontology/MESH/D010580

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

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

http://purl.bioontology.org/ontology/MESH/D005660

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

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

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

Machine permutation

91; was see under CARCINOMA, BASAL CELL 1980-90

Mapped from

http://purl.bioontology.org/ontology/MESH/C537049

MDA

19790425

MMR

20130708

MN

C16.131.077.130

C07.320.450.670.130

C16.320.700.175

C04.557.470.565.165.150

C05.116.099.105

C04.700.175

C04.182.089.530.690.150

C04.557.470.200.165.150

C05.500.470.690.150

notation

D001478

prefLabel

Basal Cell Nevus Syndrome

TERMUI

T004295

T782123

T746383

T004296

T843436

T004294

T746381

T004293

TH

NLM (1980)

UNK (19XX)

NLM (2014)

NLM (2012)

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T191

subClassOf

http://purl.bioontology.org/ontology/MESH/D009386

http://purl.bioontology.org/ontology/MESH/D001848

http://purl.bioontology.org/ontology/MESH/D009807

http://purl.bioontology.org/ontology/MESH/D002280

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

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http://purl.bioontology.org/ontology/OMIM/607035 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/603673 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/601309 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/109400 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/109400 Online Mendelian Inheritance in Man LOOM