Loeys-dietz syndrome 6

Preferred Label : Loeys-dietz syndrome 6;

Symbol : LDS6;

Type : Phenotype, molecular basis known;

Prefixed ID : #619656;

Origin ID

619656;

UMLS CUI

C5562041;

Genes related to phenotype
- Smad family member 2 [OMIM gene]
HPO term(s)
- Abdominal aortic aneurysm [HPO term]
- Adult onset [HPO term]
- Arachnodactyly [HPO term]
- Arthralgia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Carotid artery dilatation [HPO term]
- Carotid artery dissection [HPO term]
- Chronic fatigue [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Disproportionate tall stature [HPO term]
- High palate [HPO term]
- Hip osteoarthritis [HPO term]
- Intervertebral disc degeneration [HPO term]
- Knee osteoarthritis [HPO term]
- Long face [HPO term]
- Pes planus [HPO term]
- Scoliosis [HPO term]
- Striae distensae [HPO term]
- Thoracic aortic aneurysm [HPO term]
- Varicose veins [HPO term]
- Ventricular hypertrophy [HPO term]
ORDO concept(s)
- Familial thoracic aortic aneurysm and aortic dissection [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]