Ehlers-danlos syndrome, autosomal dominant, type unspecified

Preferred Label : Ehlers-danlos syndrome, autosomal dominant, type unspecified;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Eds, unspecified type; Ehlers-danlos syndrome, friedman-harrod type;

Inheritance : Autosomal dominant form(s); genetic heterogeneity;

Prefixed ID : 130090;

Details

Origin ID

130090;

UMLS CUI

C0220679;

Currated CISMeF NLP mapping
- Classical Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome, autosomal dominant, type unspecified [MeSH concept]
- Ehlers-Danlos syndrome, autosomal dominant, type unspecified [MeSH Supplementary Concept]
HPO term(s)
- Aortic aneurysm [HPO term]
- Aortic dissection [HPO term]
- Asthma [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cigarette-paper scars [HPO term]
- Eczematoid dermatitis [HPO term]
- Facial asymmetry [HPO term]
- Hernia [HPO term]
- Heterogeneous [HPO term]
- Hyperextensible skin [HPO term]
- Joint laxity [HPO term]
- Micrognathia [HPO term]
- Mucoid extracellular matrix accumulation [HPO term]
- Myxomatous mitral valve degeneration [HPO term]
- Positional foot deformity [HPO term]
- Prominent nasal bridge [HPO term]
- Thoracolumbar kyphoscoliosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classical Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome, autosomal dominant, type unspecified [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, autosomal dominant, type unspecified [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients