Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCataract (D002386)
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandOsteogenesis Imperfecta (D010013)
..Starting node
..expandOsteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)

       Child Nodes:



 Sister Nodes: 
..expandAl Gazali Sabrinathan Nair syndrome (C535617)
..expandAstley-Kendall syndrome (C535392)
..expandBruck syndrome 1 (C537406)
..expandBruck syndrome 2 (C537407)
..expandCole Carpenter syndrome (C535963)
..expandGNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
..expandGrant syndrome (C537293)
..expandLowry Maclean syndrome (C537037)
..expandOI/EDS Combined Syndrome (C565178)
..expandOsteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..expandOsteogenesis Imperfecta Type VII (C565200)
..expandOsteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures (C563487)
..expandOsteogenesis imperfecta, Levin type (C536039)
..expandOsteogenesis imperfecta, type 1A (C536041)
..expandOsteogenesis imperfecta, type 2A (C536042)
..expandOsteogenesis imperfecta, type 2B (C536043)
..expandOsteogenesis imperfecta, type 3 (C536044)
..expandOsteogenesis imperfecta, type 4 (C536045)
..expandOsteogenesis imperfecta, type 5 (C536046)
..expandOsteogenesis imperfecta, type 6 (C536047)
..expandOsteogenesis imperfecta, type 7 (C536048)
..expandOsteogenesis Imperfecta, Type IX (C564921)
..expandOsteogenesis Imperfecta, Type V (C567042)
..expandOsteogenesis Imperfecta, Type VI (C567041)
..expandOsteogenesis imperfecta, type VIII (C536049)
..expandOsteopenic Nonfracture Syndrome (C567172)
..expandOsteoporosis-pseudoglioma syndrome (C536063)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8391
Name:Osteogenesis imperfecta congenita, microcephaly, and cataracts
Definition:
Alternative IDs:
ParentIDs:MESH:D002386|MESH:D008831|MESH:D010013
TreeNumbers:C05.116.099.708.685/C537558 |C05.660.207.620/C537558 |C10.500.507.400.500/C537558 |C11.510.245/C537558 |C16.131.621.207.620/C537558 |C16.131.666.507.400.500/C537558 |C16.320.737/C537558 |C17.300.200.540/C537558
Synonyms:
Slim Mappings:Congenital abnormality|Connective tissue disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C537558
MeSH: C537558
OMIM: 259410;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000592Blue sclerae
3 HP:0003023Bowing of limbs due to multiple fractures
4 HP:0005474Decreased calvarial ossification
5 HP:0000519Developmental cataract
6 HP:0008873Disproportionate short-limb short stature
7 HP:0000252Microcephaly
8 HP:0005855Multiple prenatal fractures
9 HP:0000768Pectus carinatum
10 HP:0000767Pectus excavatum
11 HP:0002691Platybasia
12 HP:0003826Stillbirth
13 HP:0000963Thin skin
14 HP:0002645Wormian bones
Disease Causing ClinVar Variants