| Concept UI |
CON00627 (Tree)
|
| Name |
COG6-CDG
|
| Aliases |
CDG-IIL
Congenital Disorder of Glycosylation, Type IIL
|
| Disease name: Preferred Term |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL
|
| Disease name: Preferred Term ABBR |
CDG2L
|
| Disease name: Synonyms (from OMIM and MeSH) |
CDGIIL
Congenital disorder of glycosylation type 2L
CDG IIL
|
| UMLS CUI |
C3553230
|
| OMIM DATA: Gene |
COG6
|
| OMIM DATA: Gene Number |
606977
|
| OMIM DATA: Phenotype Number |
614576
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Craniofacial Abnormalities
- Developmental Disabilities
- Diarrhea
- Digestive System Diseases
- Gastrointestinal Diseases
- Hematologic Diseases
- Hepatomegaly
- Kidney Diseases
- Limb Deformities, Congenital
- Liver Diseases
- Malformations of Cortical Development
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Microcephaly
- Muscle Hypotonia
- Musculoskeletal Abnormalities
- Neurologic Manifestations
- Neuromuscular Manifestations
- Pathologic Processes
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Seizures
- Signs and Symptoms
- Signs and Symptoms, Digestive
- Stomatognathic System Abnormalities
- Vomiting
- Blood Coagulation Disorders
- Dysgammaglobulinemia
- Epilepsy
- Failure to Thrive
- Hemorrhage (Bleeding)
- Immune System Diseases
- Immunologic Deficiency Syndromes
- Jaw Abnormalities
- Liver Cirrhosis
- Nephrosis
- Digestive System Abnormalities
- Retrognathia
|
|
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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