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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Osteogenesis Imperfecta (D010013)
..Starting node ..Osteogenesis imperfecta, type 2B (C536043)
Child Nodes:
Sister Nodes:
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Astley-Kendall syndrome (C535392)
..Bruck syndrome 1 (C537406)
..Bruck syndrome 2 (C537407)
..Cole Carpenter syndrome (C535963)
..GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
..Grant syndrome (C537293)
..Lowry Maclean syndrome (C537037)
..OI/EDS Combined Syndrome (C565178)
..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..Osteogenesis Imperfecta Type VII (C565200)
..Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures (C563487)
..Osteogenesis imperfecta, Levin type (C536039)
..Osteogenesis imperfecta, type 1A (C536041)
..Osteogenesis imperfecta, type 2A (C536042)
..Osteogenesis imperfecta, type 2B (C536043)
..Osteogenesis imperfecta, type 3 (C536044)
..Osteogenesis imperfecta, type 4 (C536045)
..Osteogenesis imperfecta, type 5 (C536046)
..Osteogenesis imperfecta, type 6 (C536047)
..Osteogenesis imperfecta, type 7 (C536048)
..Osteogenesis Imperfecta, Type IX (C564921)
..Osteogenesis Imperfecta, Type V (C567042)
..Osteogenesis Imperfecta, Type VI (C567041)
..Osteogenesis imperfecta, type VIII (C536049)
..Osteopenic Nonfracture Syndrome (C567172)
..Osteoporosis-pseudoglioma syndrome (C536063)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8395
Name:	Osteogenesis imperfecta, type 2B
Definition:
Alternative IDs:
ParentIDs:	MESH:D010013
TreeNumbers:	C05.116.099.708.685/C536043 \|C16.320.737/C536043 \|C17.300.200.540/C536043
Synonyms:	Osteogenesis imperfecta, perinatal lethal, autosomal recessive \|Osteogenesis Imperfecta, Type IIB
Slim Mappings:	Connective tissue disease\|Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: C536043 MeSH: C536043 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants