MAN1B1-congenital disorder of glycosylation
http://purl.obolibrary.org/obo/MONDO_0018349
MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3). [ Orphanet:397941 ]
Term info
- SCTID:733450008 (MONDO:equivalentTo)
- GARD:0012417 (MONDO:equivalentTo)
- Orphanet:397941 (MONDO:equivalentTo)
- UMLS:C4518783 (MONDO:equivalentTo)
gard_rare, ordo_disease
MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).
http://purl.obolibrary.org/obo/Orphanet_397941, http://identifiers.org/snomedct/733450008, http://linkedlifedata.com/resource/umls/id/C4518783
carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency, MAN1B1-congenital disorder of glycosylation, congenital disorder of glycosylation type II due to MAN1B1 deficiency, MAN1B1-CDG, congenital disorder of glycosylation type 2 due to MAN1B1 deficiency, intellectual disability-truncal obesity syndrome
MONDO:0018349
https://rarediseases.info.nih.gov/diseases/12417/man1b1-cdg