Bruck syndrome 2

Preferred Label : Bruck syndrome 2;

Symbol : BRKS2;

CISMeF acronym : BRKS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteogenesis imperfecta with congenital joint contractures;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2 gene (PLOD2, 601865.0001);

Laboratory abnormalities : Elevated urinary hydroxyproline;

Prefixed ID : #609220;

Details

Origin ID

609220;

UMLS CUI

C1836602;

Automatic exact mappings (from CISMeF team)
- Bruck syndrome [DO Concept]
- Bruck syndrome [ORDO Disease]
- Bruck syndrome 1 [MeSH concept]
- PLOD2 wt Allele [NCIt concept]
- bruck syndrome 1 [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Bruck syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Bruck syndrome 2 [MeSH concept]
- bruck syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- Bruck syndrome [DO Concept]
Genes related to phenotype
- Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elbow flexion contracture [HPO term]
- Femoral bowing [HPO term]
- Flexion contracture [HPO term]
- Hydroxyprolinuria [HPO term]
- Increased susceptibility to fractures [HPO term]
- Inguinal hernia [HPO term]
- Knee flexion contracture [HPO term]
- Osteopenia [HPO term]
- Pectus carinatum [HPO term]
- Platyspondyly [HPO term]
- Pterygium [HPO term]
- Short stature [HPO term]
- Talipes equinovarus [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Bruck syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bruck syndrome 2 [MeSH concept]
- bruck syndrome 2 [MeSH Supplementary Concept]

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