| Concept UI |
CON00631 (Tree)
|
| Name |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
|
| Disease name: Preferred Term |
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS
|
| Disease name: Synonyms (from OMIM and MeSH) |
LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
|
| UMLS CUI |
C3278404
|
| OMIM DATA: Gene |
B3GAT3
|
| OMIM DATA: Gene Number |
606374
|
| OMIM DATA: Phenotype Number |
245600
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Bone Diseases
- Bone Diseases, Developmental
- Bone Diseases, Metabolic
- Brain Diseases
- Cardiovascular Abnormalities
- Cardiovascular Diseases
- Craniofacial Abnormalities
- Dwarfism (Short stature disorder)
- Heart Defects, Congenital
- Heart Diseases
- Hip Dislocation, Congenital
- Hydrocephalus
- Intracranial Hypertension
- Joint Diseases
- Kyphosis
- Muscle Hypotonia
- Musculoskeletal Abnormalities
- Neuromuscular Manifestations
- Osteoporosis
- Skin Diseases
- Spinal Curvatures
- Spinal Diseases
- Cleft Lip
- Cleft Palate
- Clubfoot (Congenital talipes equinovarus)
- Dislocations (Joint dislocations)
- Foot Deformities, Congenital
- Hand Deformities, Congenital
- Jaw Abnormalities
- Joint Instability
- Lower Extremity Deformities, Congenital
- Micrognathism
- Scoliosis
- Spondylosis
- Upper Extremity Deformities, Congenital
- Wounds and Injuries
- Skin Diseases, Genetic
|
|
References
|
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
|
GGDB (Gene Symbol)
Link to the GlycoGene Database |
B3GAT3
|