Basal Cell Nevus Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D001478


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.

Instance info

Synonyms

Nevus Syndrome, Basal Cell, Basalzellnävussyndrom (DE), Nävus-Syndrom, Basalzell- (DE), Gorlin-Goltz Syndrome, Nevoid Basal Cell Carcinoma Syndrome, Gorlin-Goltz-Syndrom (DE), Fifth Phacomatosis, Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies, Gorlin Syndrome, Syndrome, Gorlin-Goltz, Fifth Phacomatoses, NBCCS, Syndrome, Gorlin, Gorlin Goltz Syndrome, Nävoides Basalzellkarzinom-Syndrom (DE)

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

DC

1

DX

19910101

HN

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

MDA

19790425

MMR

20130708

MN

C04.557.470.565.165.150,C16.131.077.130,C04.700.175,C04.557.470.200.165.150,C04.182.089.530.690.150,C05.116.099.105,C07.320.450.670.130,C05.500.470.690.150,C16.320.700.175

PM

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

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D000073839,http://purl.bioontology.org/ontology/MESH/D016864,http://purl.bioontology.org/ontology/MESH/D014402,http://purl.bioontology.org/ontology/MESH/D005097,http://purl.bioontology.org/ontology/MESH/D007870,http://purl.bioontology.org/ontology/MESH/D015211,http://purl.bioontology.org/ontology/MESH/D058502,http://purl.bioontology.org/ontology/MESH/D009377,http://purl.bioontology.org/ontology/MESH/D011218,http://purl.bioontology.org/ontology/MESH/D066166,http://purl.bioontology.org/ontology/MESH/D010009,http://purl.bioontology.org/ontology/MESH/D058747,http://purl.bioontology.org/ontology/MESH/D014849,http://purl.bioontology.org/ontology/MESH/D000072661,http://purl.bioontology.org/ontology/MESH/D011535,http://purl.bioontology.org/ontology/MESH/D055947,http://purl.bioontology.org/ontology/MESH/D004314,http://purl.bioontology.org/ontology/MESH/D054975,http://purl.bioontology.org/ontology/MESH/D004476,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D018333,http://purl.bioontology.org/ontology/MESH/D056830,http://purl.bioontology.org/ontology/MESH/D007184,http://purl.bioontology.org/ontology/MESH/D016878,http://purl.bioontology.org/ontology/MESH/D017204,http://purl.bioontology.org/ontology/MESH/D061325,http://purl.bioontology.org/ontology/MESH/D059446,http://purl.bioontology.org/ontology/MESH/D000073842,http://purl.bioontology.org/ontology/MESH/D004392,http://purl.bioontology.org/ontology/MESH/D010015,http://purl.bioontology.org/ontology/MESH/D016715,http://purl.bioontology.org/ontology/MESH/D003410,http://purl.bioontology.org/ontology/MESH/D020331,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D054000,http://purl.bioontology.org/ontology/MESH/D017253,http://purl.bioontology.org/ontology/MESH/D009958,http://purl.bioontology.org/ontology/MESH/D005877,http://purl.bioontology.org/ontology/MESH/D007690,http://purl.bioontology.org/ontology/MESH/D058165,http://purl.bioontology.org/ontology/MESH/D009396,http://purl.bioontology.org/ontology/MESH/D008382,http://purl.bioontology.org/ontology/MESH/D010580,http://purl.bioontology.org/ontology/MESH/D058249,http://purl.bioontology.org/ontology/MESH/D010985,http://purl.bioontology.org/ontology/MESH/D007849,http://purl.bioontology.org/ontology/MESH/D054877,http://purl.bioontology.org/ontology/MESH/D004413,http://purl.bioontology.org/ontology/MESH/D003123,http://purl.bioontology.org/ontology/MESH/D056734,http://purl.bioontology.org/ontology/MESH/D056733,http://purl.bioontology.org/ontology/MESH/D010509,http://purl.bioontology.org/ontology/MESH/D056732,http://purl.bioontology.org/ontology/MESH/D056731,http://purl.bioontology.org/ontology/MESH/D056730,http://purl.bioontology.org/ontology/MESH/D001506,http://purl.bioontology.org/ontology/MESH/D003803,http://purl.bioontology.org/ontology/MESH/D019280,http://purl.bioontology.org/ontology/MESH/D056770,http://purl.bioontology.org/ontology/MESH/D019082,http://purl.bioontology.org/ontology/MESH/D004416,http://purl.bioontology.org/ontology/MESH/D012410,http://purl.bioontology.org/ontology/MESH/D058495,http://purl.bioontology.org/ontology/MESH/D058496,http://purl.bioontology.org/ontology/MESH/D058497,http://purl.bioontology.org/ontology/MESH/D011125,http://purl.bioontology.org/ontology/MESH/D005660,http://purl.bioontology.org/ontology/MESH/D030981,http://purl.bioontology.org/ontology/MESH/D016738,http://purl.bioontology.org/ontology/MESH/D009261,http://purl.bioontology.org/ontology/MESH/D012779,http://purl.bioontology.org/ontology/MESH/D012415,http://purl.bioontology.org/ontology/MESH/D005736,http://purl.bioontology.org/ontology/MESH/D056846,http://purl.bioontology.org/ontology/MESH/D056889,http://purl.bioontology.org/ontology/MESH/D044542,http://purl.bioontology.org/ontology/MESH/D006223,http://purl.bioontology.org/ontology/MESH/D001816,http://purl.bioontology.org/ontology/MESH/D056685,http://purl.bioontology.org/ontology/MESH/D016142,http://purl.bioontology.org/ontology/MESH/D054463,http://purl.bioontology.org/ontology/MESH/D054062,http://purl.bioontology.org/ontology/MESH/D003635

TERMUI

T746383,T782123,T746381,T843436,T004293,T004294,T004295,T004296

TH

NLM (1980),GHR (2014),ORD (2010),OMIM (2013),UNK (19XX),NLM (2014),NLM (2012)

cui

C0004779

hasSTY

http://purl.bioontology.org/ontology/STY/T191

mapped from

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

tui

T191

Instance relations

Types