Ehlers-danlos syndrome, arthrochalasia type, 2

Preferred Label : Ehlers-danlos syndrome, arthrochalasia type, 2;

Symbol : EDSARTH2;

CISMeF acronym : EDSARTH2; EDS7B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Eds viib; Ehlers-danlos syndrome, type viib, autosomal dominant; EDS7B;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A2, 120160.0001);

Prefixed ID : #617821;

Details

Origin ID

617821;

UMLS CUI

C1851801;

CISMeF manual mappings
- EDS VIIB [MeSH concept]
Currated CISMeF NLP mapping
- EDS VIIB [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome arthrochalasia type 2 [DO Concept]
- Ehlers-Danlos syndrome type 7B [ORDO Disease]
DO Cross reference
- Ehlers-Danlos syndrome arthrochalasia type 2 [DO Concept]
Genes related to phenotype
- Collagen, type I, alpha-2 [OMIM gene]
HPO term(s)
- Atrophic scars [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bladder diverticulum [HPO term]
- Breech presentation [HPO term]
- Bruising susceptibility [HPO term]
- Delayed gross motor development [HPO term]
- Fragile skin [HPO term]
- Generalized hypotonia [HPO term]
- Hallux valgus [HPO term]
- Hip dislocation [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hyperextensible skin [HPO term]
- Hyperlordosis [HPO term]
- Joint hypermobility [HPO term]
- Joint subluxation [HPO term]
- Kyphosis [HPO term]
- Pes planus [HPO term]
- Scoliosis [HPO term]
- Soft skin [HPO term]
- Talipes equinovarus [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Arthrochalasia Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome type 7B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- EDS VIIB [MeSH concept]
- EDS VIIB [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 7B [ORDO Disease]
Validated automatic mappings to NTBT
- Arthrochalasia Ehlers-Danlos syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients