| Concept UI |
CON00634 (Tree)
|
| Name |
Ehlers-Danlos syndrome, musculocontractural type
|
| Aliases |
Adducted thumb and clubfoot syndrome
|
| Disease name: Preferred Term |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE
|
| Disease name: Preferred Term ABBR |
EDSMC
|
| Disease name: Synonyms (from OMIM and MeSH) |
EDS6B, FORMERLY
ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME
ATCS
ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS
DUNDAR SYNDROME
ADDUCTED THUMB-CLUBFOOT SYNDROME
EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY
|
| UMLS CUI |
C1866294
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C538226
|
| OMIM DATA: Gene |
CHST14
|
| OMIM DATA: Gene Number |
608429
|
| OMIM DATA: Phenotype Number |
601776
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Bone Diseases, Developmental
- Cardiovascular Diseases
- Connective Tissue Diseases
- Contracture
- Corneal Diseases
- Craniofacial Abnormalities
- Digestive System Diseases
- Dwarfism (Short stature disorder)
- Eye Diseases
- Female Urogenital Diseases
- Gastrointestinal Diseases
- Glaucoma
- Heart Diseases
- Hernia, Abdominal
- Hernia, Inguinal
- Joint Diseases
- Kidney Diseases
- Kyphosis
- Male Urogenital Diseases
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Motor Skills Disorders
- Muscle Hypotonia
- Muscle Weakness
- Muscular Diseases
- Musculoskeletal Abnormalities
- Neuromuscular Manifestations
- Ocular Hypertension
- Pathologic Processes
- Respiratory Tract Diseases
- Retinal Diseases
- Skin Abnormalities
- Skin and Connective Tissue Diseases
- Skin Diseases
- Spinal Curvatures
- Stomatognathic System Abnormalities
- Arthrogryposis
- Cleft Lip
- Cleft Palate
- Clubfoot (Congenital talipes equinovarus)
- Corneal Dystrophies, Hereditary
- Cryptorchidism
- Eye Diseases, Hereditary
- Foot Deformities, Congenital
- Hand Deformities, Congenital
- Hemorrhage (Bleeding)
- Hypertelorism
- Jaw Abnormalities
- Joint Instability
- Lower Extremity Deformities, Congenital
- Myopia
- Nephrosis
- Refractive Errors
- Retinal Detachment
- Scoliosis
- Upper Extremity Deformities, Congenital
- Urogenital Abnormalities
- Craniofacial Dysostosis
- 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 |
D4ST1
|