Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

BLEPHAROCHEILODONTIC SYNDROME 1
Synonyms

ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE
ID

http://purl.bioontology.org/ontology/OMIM/119580
altLabel

ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE

BCDS

LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE

CLEFTING, ECTROPION, AND CONICAL TEETH

ELSCHNIG SYNDROME

BCD SYNDROME

BLEPHAROCHEILODONTIC SYNDROME

BCDS1
cui

C1861536
Gene Locus

16q22.1
Gene Symbol

LCAM

UVO

BCDS1

ECAD

CDH1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU034736

http://purl.bioontology.org/ontology/OMIM/MTHU036583

http://purl.bioontology.org/ontology/OMIM/MTHU036582

http://purl.bioontology.org/ontology/OMIM/MTHU058183

http://purl.bioontology.org/ontology/OMIM/MTHU058186

http://purl.bioontology.org/ontology/OMIM/MTHU058181

http://purl.bioontology.org/ontology/OMIM/MTHU002047

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU034969

http://purl.bioontology.org/ontology/OMIM/MTHU003747

http://purl.bioontology.org/ontology/OMIM/MTHU007743

http://purl.bioontology.org/ontology/OMIM/MTHU036586

http://purl.bioontology.org/ontology/OMIM/MTHU036584

http://purl.bioontology.org/ontology/OMIM/MTHU014101

http://purl.bioontology.org/ontology/OMIM/MTHU058180

http://purl.bioontology.org/ontology/OMIM/MTHU058185

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU058187

http://purl.bioontology.org/ontology/OMIM/MTHU058184

http://purl.bioontology.org/ontology/OMIM/MTHU058182

http://purl.bioontology.org/ontology/OMIM/MTHU003365

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

http://purl.bioontology.org/ontology/OMIM/MTHU054536

http://purl.bioontology.org/ontology/OMIM/MTHU002570
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

600990
notation

119580
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

BLEPHAROCHEILODONTIC SYNDROME 1
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C536188 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0080345 Human Disease Ontology 123 LOOM