Pseudoxanthoma elasticum, forme fruste

Preferred Label : Pseudoxanthoma elasticum, forme fruste;

Type : Phenotype, molecular basis known;

Included titles and symbols : Pseudoxanthoma elasticum, heterozygous;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the ATP-binding cassette, subfamily C, member 6 gene (ABCC6, 603234.0005);

Prefixed ID : #177850;

Details

Origin ID

177850;

UMLS CUI

C1867450;

Automatic exact mappings (from CISMeF team)
- pseudoxanthoma elasticum [MeSH Descriptor]
- pseudoxanthoma elasticum, heterozygous [MeSH Supplementary Concept]
- pseudoxanthoma elasticum, heterozygous [MeSH concept]
DO Cross reference
- pseudoxanthoma elasticum [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily C, member 6 [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Angina pectoris [HPO term]
- Angioid streaks of the fundus [HPO term]
- Arteriosclerosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blue sclerae [HPO term]
- Calcification of falx cerebri [HPO term]
- Cerebral hemorrhage [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Kyphosis [HPO term]
- Macular degeneration [HPO term]
- Medial calcification of large arteries [HPO term]
- Medial calcification of medium-sized arteries [HPO term]
- Mitral valve prolapse [HPO term]
- Myopia [HPO term]
- Peau d'orange [HPO term]
- Premature occlusive vascular stenosis [HPO term]
- Reduced visual acuity [HPO term]
- Retinal hemorrhage [HPO term]
- Scoliosis [HPO term]
- Visual impairment [HPO term]
- Yellow papule [HPO term]
ORDO concept(s)
- Pseudoxanthoma elasticum [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- pseudoxanthoma elasticum, incomplete [MeSH concept]

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