Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

BASAL CELL NEVUS SYNDROME 1
Synonyms

BCNS1
ID

http://purl.bioontology.org/ontology/OMIM/109400
altLabel

BCNS1

NBCCS

GORLIN-GOLTZ SYNDROME

NEVOID BASAL CELL CARCINOMA SYNDROME

GORLIN SYNDROME

BCNS

MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES

BASAL CELL NEVUS SYNDROME
cui

C0004779
Gene Locus

9q22.3
Gene Symbol

PTCH1

NBCCS

BCNS1

HPE7
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU041169

http://purl.bioontology.org/ontology/OMIM/MTHU000128

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU019330

http://purl.bioontology.org/ontology/OMIM/MTHU017028

http://purl.bioontology.org/ontology/OMIM/MTHU019333

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU008963

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU007918

http://purl.bioontology.org/ontology/OMIM/MTHU036446

http://purl.bioontology.org/ontology/OMIM/MTHU019345

http://purl.bioontology.org/ontology/OMIM/MTHU019335

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU019337

http://purl.bioontology.org/ontology/OMIM/MTHU005818

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU019332

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU019342

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU019331

http://purl.bioontology.org/ontology/OMIM/MTHU019339

http://purl.bioontology.org/ontology/OMIM/MTHU019334

http://purl.bioontology.org/ontology/OMIM/MTHU019329

http://purl.bioontology.org/ontology/OMIM/MTHU016184

http://purl.bioontology.org/ontology/OMIM/MTHU019338

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU065103

http://purl.bioontology.org/ontology/OMIM/MTHU048346

http://purl.bioontology.org/ontology/OMIM/MTHU019340

http://purl.bioontology.org/ontology/OMIM/MTHU019341

http://purl.bioontology.org/ontology/OMIM/MTHU019336

http://purl.bioontology.org/ontology/OMIM/MTHU019344
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

109400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

BASAL CELL NEVUS SYNDROME 1
Scope Statement

Paternal age effect [MISCELLANEOUS]

Caused by mutation in the SUFU negative regulator of hedgehog signaling gene (SUFU, 607035.0003) [MOLECULAR BASIS]

Abnormal sensitivity to therapeutic radiation [MISCELLANEOUS]

Caused by mutation in the patched 1 gene (PTCH1, 601309.0001) [MOLECULAR BASIS]

Caused by mutation in the patched 2 gene (PTCH2, 603673.0003) [MOLECULAR BASIS]
tui

T191
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