Ehlers-danlos syndrome, periodontal type, 2

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;

Détails

Origin ID

617174;

UMLS CUI

C4310681;

Automatic exact mappings (from CISMeF team)
- C1S wt Allele [NCIt concept]
Genes related to phenotype
- Complement component 1, s subcomponent [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Fragile skin [HPO term]
- Gingival bleeding [HPO term]
- Inguinal hernia [HPO term]
- Joint hypermobility [HPO term]
- Neoplasm [HPO term]
- Periodontitis [HPO term]
- Scoliosis [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- Periodontal Ehlers-Danlos syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Periodontal Ehlers-Danlos syndrome [ORDO Disease]

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