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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandOsteogenesis Imperfecta (D010013)
..Starting node
..expandGrant syndrome (C537293)

       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:4782
Name:Grant syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D010013|MESH:D019465
TreeNumbers:C05.116.099.708.685/C537293 |C05.660.207/C537293 |C16.131.077/C537293 |C16.131.621.207/C537293 |C16.320.737/C537293 |C17.300.200.540/C537293
Synonyms:
Slim Mappings:Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: C537293
MeSH: C537293
OMIM: 138930;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000592Blue sclerae
3 HP:0200021Down-sloping shoulders
4 HP:0000347Micrognathia
5 HP:0002982Tibial bowing
6 HP:0002645Wormian bones
Disease Causing ClinVar Variants