Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:affects |
nails
oral cavity mammary glands limbs |
gptkbp:alsoKnownAs |
gptkb:LMS
|
gptkbp:characterizedBy |
cleft palate
limb malformations mammary gland hypoplasia nail abnormalities |
gptkbp:firstDescribed |
1999
D. C. C. Celli |
https://www.w3.org/2000/01/rdf-schema#label |
Limb-mammary syndrome
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:mutationAssociatedWith |
gptkb:TP63_gene
|
gptkbp:OMIM |
603543
|
gptkbp:bfsParent |
gptkb:p63
|
gptkbp:bfsLayer |
6
|