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loading...| Preferred Name |
blepharocheilodontic syndrome 1 |
| Definitions |
A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22. |
| ID |
http://purl.obolibrary.org/obo/DOID_0080345 |
| database_cross_reference |
OMIM:119580 |
| definition |
A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22. |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0080345 |
| label |
blepharocheilodontic syndrome 1 |
| notation |
DOID:0080345 |
| prefLabel |
blepharocheilodontic syndrome 1 |
| subClassOf |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/119580 | Online Mendelian Inheritance in Man | LOOM |