JSON

nevoid basal cell carcinoma syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007187

A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities. [ Orphanet:377 ]

Synonyms: basal cell nevus syndrome Gorlin syndrome NBCCS nevoid basal cell cancer syndrome nevoid basal cell carcinoma syndrome multiple basal cell carcinomas Gorlin-Goltz syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C2892 (MONDO:equivalentTo)
  • NANDO:2200828 (https://orcid.org/0000-0003-0011-764X)
  • UMLS:C0004779 (MONDO:equivalentTo)
  • MESH:D001478 (MONDO:equivalentTo)
  • DOID:0070365 (MONDO:equivalentTo)
  • DOID:2512 (MONDO:equivalentTo)
  • SCTID:69408002 (MONDO:equivalentTo)
  • NORD:1507 (MONDO:NORD)
  • OMIMPS:109400 (MONDO:equivalentTo)
  • MEDGEN:2554 (MONDO:equivalentTo)
  • GARD:7166 (MONDO:GARD)
  • Orphanet:377 (OMIM:109400)
  • icd11.foundation:1012745138 (https://orcid.org/0000-0002-4142-7153)
  • MedDRA:10062804 (Orphanet:377/e)
Subsets

ordo_disorder, matrix_llm__is_cancer_other, gard_rare, matrix_txgnn_grouping_cancer_or_benign_tumor, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_included, nord_rare, clingen, mondo_top_grouping_cancer_or_benign_tumor, matrix_txgnn_grouping_member, rare, orphanet_rare, harrisons_view_nervous_system_disorder, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, susceptibility_mondo, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cancer_or_benign_tumor, harrisons_view_member, ordo_malformation_syndrome, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis

abbreviation
NBCCS [ DOID:2512 Orphanet:377 ]

abbreviation
BCNS [ MONDO:Lexical ]

ClinGen label
nevoid basal cell carcinoma syndrome [ Orphanet:377 NCIT:C2892 DOID:2512 ]

closeMatch

http://identifiers.org/meddra/10062804

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0007187

exactMatch

http://www.orpha.net/ORDO/Orphanet_377

http://purl.obolibrary.org/obo/DOID_2512

http://purl.obolibrary.org/obo/DOID_0070365

http://identifiers.org/mesh/D001478

http://identifiers.org/snomedct/69408002

http://linkedlifedata.com/resource/umls/id/C0004779

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1012745138

http://purl.obolibrary.org/obo/NCIT_C2892

http://identifiers.org/medgen/2554

https://omim.org/phenotypicSeries/PS109400

has related synonym

multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

BCNS

id

MONDO:0007187

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml