| Concept UI |
CON00626 (Tree)
|
| Name |
TMEM165-CDG
|
| Aliases |
CDG-IIk
Congenital Disorder of Glycosylation, Type IIk
|
| Disease name: Preferred Term |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk
|
| Disease name: Preferred Term ABBR |
CDG2K
|
| Disease name: Synonyms (from OMIM and MeSH) |
CDGIIk
Congenital disorder of glycosylation type 2K
CDG IIk
|
| UMLS CUI |
C3553571
|
| OMIM DATA: Gene |
TMEM165
|
| OMIM DATA: Gene Number |
614726
|
| OMIM DATA: Phenotype Number |
614727
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Body Temperature Changes
- Bone Diseases
- Bone Diseases, Developmental
- Bone Diseases, Metabolic
- Brain Diseases
- Craniofacial Abnormalities
- Demyelinating Diseases
- Dwarfism (Short stature disorder)
- Endocrine System Diseases
- Eye Abnormalities
- Eye Diseases
- Fever
- Growth Disorders
- Hepatomegaly
- Hereditary Central Nervous System Demyelinating Diseases
- Heredodegenerative Disorders, Nervous System
- Joint Diseases
- Kyphosis
- Liver Diseases
- Lung Diseases
- Lymphatic Diseases
- Malformations of Cortical Development
- Maxillofacial Abnormalities
- Microcephaly
- Muscle Hypotonia
- Muscle Weakness
- Muscular Diseases
- Musculoskeletal Abnormalities
- Musculoskeletal Diseases
- Neurobehavioral Manifestations
- Neurodegenerative Diseases
- Neuromuscular Manifestations
- Osteoporosis
- Pathologic Processes
- Respiratory Tract Diseases
- Spinal Curvatures
- Spinal Diseases
- Splenic Diseases
- Stomatognathic System Abnormalities
- Collagen Diseases
- Epilepsy
- Eye Diseases, Hereditary
- Joint Instability
- Osteochondrodysplasias
- Osteogenesis Imperfecta
- Psychomotor Disorders
- Scoliosis
- Spondylosis
|
|
References
|
- Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics.
- Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016.
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