Combined osteogenesis imperfecta and ehlers-danlos syndrome 2

Preferred Label : Combined osteogenesis imperfecta and ehlers-danlos syndrome 2;

Symbol : OIEDS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oieds syndrome 2;

Prefixed ID : #619120;

Details

Origin ID

619120;

UMLS CUI

C5436847;

Genes related to phenotype
- Collagen, type I, alpha-2 [OMIM gene]
HPO term(s)
- Arterial rupture [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blue sclerae [HPO term]
- Bruising susceptibility [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- Dermal translucency [HPO term]
- Generalized hypotonia [HPO term]
- Hyperextensible skin [HPO term]
- Joint dislocation [HPO term]
- Joint hypermobility [HPO term]
- Poor wound healing [HPO term]
- Recurrent fractures [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Ehlers-Danlos/osteogenesis imperfecta syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Ehlers-Danlos/osteogenesis imperfecta syndrome [ORDO Disease]

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