Preferred Label : Ehlers-danlos syndrome, periodontal type, 2;
Symbol : EDSPD2;
CISMeF acronym : EDSPD2;
Type : Phenotype, molecular basis known;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the complement component-1, s-subcomponent gene (C1S, 120580.0003);
Neoplasia : Cancer (e.g., lung, breast, genitourinary, colon, etc. in some patients);
Prefixed ID : #617174;
Origin ID : 617174;
UMLS CUI : C4310681;
Automatic exact mappings (from CISMeF team)
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
Validated automatic mappings to NTBT