Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- mtDNA Tool:
- mvTool
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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

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: Craniosynostoses (D003398)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Hydrocephalus (D006849)
Parent Node: Osteogenesis Imperfecta (D010013)
..Starting node ..Cole Carpenter syndrome (C535963)
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:	2472
Name:	Cole Carpenter syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D003398\|MESH:D005124\|MESH:D006849\|MESH:D010013
TreeNumbers:	C05.116.099.370.894.232/C535963 \|C05.116.099.708.685/C535963 \|C05.660.207.240/C535963 \|C05.660.207.707.249/C535963 \|C05.660.906.364/C535963 \|C10.228.140.602/C535963 \|C10.228.140.631.450/C535963 \|C11.250/C535963 \|C16.131.384/C535963 \|C16.131.621.207.240/C535963 \|C1
Synonyms:	Cole-Carpenter Syndrome
Slim Mappings:	Congenital abnormality\|Connective tissue disease\|Eye disease\|Genetic disease (inborn)\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: C535963 MeSH: C535963 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants