Ehlers-danlos syndrome, classic-like, 2

Preferred Label : Ehlers-danlos syndrome, classic-like, 2;

Symbol : EDSCLL2;

CISMeF acronym : EDSCLL2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the AE-binding protein-1 gene (AEBP1, 602981.0001);

Prefixed ID : #618000;

Details

Origin ID

618000;

UMLS CUI

C4693870;

Currated CISMeF NLP mapping
- Classical-like Ehlers-Danlos syndrome type 2 [ORDO Disease]
- Classical-like Ehlers-Danlos syndrome type 2 (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome classic-like 2 [DO Concept]
DO Cross reference
- Ehlers-Danlos syndrome classic-like 2 [DO Concept]
Genes related to phenotype
- Ae-binding protein 1 [OMIM gene]
HPO term(s)
- Atrophic scars [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral ptosis [HPO term]
- Bruising susceptibility [HPO term]
- Bursitis [HPO term]
- Cellulitis [HPO term]
- Cryptorchidism [HPO term]
- Hallux valgus [HPO term]
- High palate [HPO term]
- Hip dislocation [HPO term]
- Hyperextensible skin [HPO term]
- Inguinal hernia [HPO term]
- Knee dislocation [HPO term]
- Low posterior hairline [HPO term]
- Macrotia [HPO term]
- Micrognathia [HPO term]
- Mitral valve prolapse [HPO term]
- Osteoarthritis [HPO term]
- Osteoporosis [HPO term]
- Pes planus [HPO term]
- Redundant skin [HPO term]
- Short neck [HPO term]
- Shoulder dislocation [HPO term]
- Squared iliac bones [HPO term]
- Thin eyebrow [HPO term]
- Thoracic scoliosis [HPO term]
- Umbilical hernia [HPO term]
- Ventral hernia [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Classical-like Ehlers-Danlos syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classical-like Ehlers-Danlos syndrome type 2 (disorder) [SNOMED CT concept]

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