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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 VI (C567041)
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:

8403

Name:

Osteogenesis Imperfecta, Type VI

Definition:

Alternative IDs:

ParentIDs:

MESH:D010013

TreeNumbers:

C05.116.099.708.685/C567041 |C16.320.737/C567041 |C17.300.200.540/C567041

Synonyms:

OI6 |OI, Type VI

Slim Mappings:

Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C567041
MeSH: C567041
OMIM: 610968;

Genes: FKBP10;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000164	Abnormality of the dentition
4	HP:0000951	Abnormality of the skin
5	HP:0004586	Biconcave vertebral bodies
6	HP:0000592	Blue sclerae
7	HP:0000248	Brachycephaly
8	HP:0002812	Coxa vara	HP:0040284
9	HP:0000703	Dentinogenesis imperfecta
10	HP:0003155	Elevated circulating alkaline phosphatase concentration
11	HP:0002659	Increased susceptibility to fractures
12	HP:0001388	Joint laxity
13	HP:0002751	Kyphoscoliosis
14	HP:0000938	Osteopenia
15	HP:0003179	Protrusio acetabuli
16	HP:0002650	Scoliosis
17	HP:0004322	Short stature
18	HP:0000325	Triangular face
19	HP:0002953	Vertebral compression fracture
20	HP:0008422	Vertebral wedging
21	HP:0002645	Wormian bones

Disease Causing ClinVar Variants