Lethal congenital contracture syndrome 2

Preferred Label : Lethal congenital contracture syndrome 2;

Symbol : LCCS2;

CISMeF acronym : LCCS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple contracture syndrome, israeli bedouin type a;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transformation gene ERBB-3 (ERBB3, 190151.0001);

Prefixed ID : #607598;

Details

Origin ID

607598;

UMLS CUI

C1843478;

Automatic exact mappings (from CISMeF team)
- ERBB3 wt Allele [NCIt concept]
- symbol withdrawn LCCS2 [HGNC gene]
Currated CISMeF NLP mapping
- Lethal congenital contracture syndrome type 2 [ORDO Disease]
- Lethal congenital contracture syndrome type 2 (disorder) [SNOMED CT concept]
- lethal congenital contracture syndrome 2 [DO Concept]
- lethal congenital contracture syndrome 2 [MeSH concept]
- lethal congenital contracture syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- lethal congenital contracture syndrome 2 [DO Concept]
Genes related to phenotype
- Erb-b2 receptor tyrosine kinase 3 [OMIM gene]
HPO term(s)
- Akinesia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased fetal movement [HPO term]
- Degenerative vitreoretinopathy [HPO term]
- Dilated cardiomyopathy [HPO term]
- Edema [HPO term]
- High myopia [HPO term]
- Hydronephrosis [HPO term]
- Micrognathia [HPO term]
- Neurogenic muscle atrophy [HPO term]
- Polyhydramnios [HPO term]
- Respiratory failure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Ventricular septal defect [HPO term]
- respiratory failure in infancy [HPO term]
ORDO concept(s)
- Lethal congenital contracture syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lethal congenital contracture syndrome type 2 [ORDO Disease]
- Lethal congenital contracture syndrome type 2 (disorder) [SNOMED CT concept]
- lethal congenital contracture syndrome 2 [MeSH Supplementary Concept]
- lethal congenital contracture syndrome 2 [MeSH concept]

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