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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: Bone Diseases, Developmental (D001848)
Parent Node: Dentinogenesis Imperfecta (D003811)
..Starting node ..Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta (C565734)
Child Nodes:
Sister Nodes:
..Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta (C565734)
..Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 (C565316)
..Dentinogenesis imperfecta, shields type 3 (C538216)
..Opalescent dentin (C531665)
..Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures (C563487)
..Osteogenesis imperfecta, type 1A (C536041)
..Spondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2777

Name:

Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta

Definition:

Alternative IDs:

ParentIDs:

MESH:D001848|MESH:D003811

TreeNumbers:

C05.116.099/C565734 |C07.650.800.270/C565734 |C07.793.700.270/C565734 |C16.131.850.800.270/C565734

Synonyms:

Slim Mappings:

Congenital abnormality|Mouth disease|Musculoskeletal disease

Reference:

MedGen: C565734
MeSH: C565734
OMIM: 604922;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001555	Asymmetry of the thorax
3	HP:0000670	Carious teeth
4	HP:0008115	Clinodactyly of the 3rd toe
5	HP:0011918	Clinodactyly of the 4th toe
6	HP:0001476	Delayed closure of the anterior fontanelle
7	HP:0000703	Dentinogenesis imperfecta
8	HP:0000268	Dolichocephaly
9	HP:0004990	Epiphyseal streaking
10	HP:0000316	Hypertelorism
11	HP:0002659	Increased susceptibility to fractures
12	HP:0001377	Limited elbow extension
13	HP:0000629	Periorbital fullness
14	HP:0004322	Short stature
15	HP:0000883	Thin ribs
16	HP:0002645	Wormian bones

Disease Causing ClinVar Variants