| Concept UI |
CON00632 (Tree)
|
| Name |
Temtamy preaxial brachydactyly syndrome
|
| Aliases |
TPBS
|
| Disease name: Preferred Term |
TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME
|
| Disease name: Preferred Term ABBR |
TPBS
|
| Disease name: Synonyms (from OMIM and MeSH) |
PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
|
| UMLS CUI |
C1854466
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C536958
|
| OMIM DATA: Gene |
CHSY1
|
| OMIM DATA: Gene Number |
608183
|
| OMIM DATA: Phenotype Number |
605282
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Bone Diseases, Developmental
- Communication Disorders
- Craniofacial Abnormalities
- Dwarfism (Short stature disorder)
- Growth Disorders
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Intellectual Disability (Mental Retardation)
- Learning Disorders
- Limb Deformities, Congenital
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Musculoskeletal Abnormalities
- Musculoskeletal Diseases
- Neurobehavioral Manifestations
- Pathologic Processes
- Stomatognathic System Abnormalities
- Brachydactyly
- Cleft Lip
- Cleft Palate
- Foot Deformities, Congenital
- Hand Deformities, Congenital
- Jaw Abnormalities
- Lower Extremity Deformities, Congenital
- Micrognathism
- Tooth Abnormalities
- Upper Extremity Deformities, Congenital
|
|
References
|
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
|
GGDB (Gene Symbol)
Link to the GlycoGene Database |
CHSY1
|