Disease Browser
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Parent Node: Usher Syndromes (D052245) | ..Starting node ..USHER SYNDROME, TYPE IJ (OMIM:614869)
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Sister Nodes: | ..Usher syndrome, type 1B (C536485)
| ..Usher syndrome, type 1C (C536486)
| ..Usher syndrome, type 1D (C536487)
| ..Usher syndrome, type 1E (C536488)
| ..Usher syndrome, type 1F (C536489)
| ..Usher syndrome, type 2A (C536490)
| ..Usher syndrome, type 2B (C536491)
| ..Usher syndrome, type 2C (C536492)
| ..Usher Syndrome, Type Ib (C564755)
| ..Usher Syndrome, Type IC (C564753)
| ..Usher Syndrome, Type ID (C563400)
| ..Usher Syndrome, Type ID/F (C567409)
| ..Usher Syndrome, Type IE (C566577)
| ..Usher Syndrome, Type IF (C566586)
| ..Usher Syndrome, Type IG (C564643)
| ..Usher Syndrome, Type IH (C567227)
| ..USHER SYNDROME, TYPE IID (OMIM:611383)
| ..USHER SYNDROME, TYPE IIIA (OMIM:276902)
| ..USHER SYNDROME, TYPE IJ (OMIM:614869)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 11462 |
Name: | USHER SYNDROME, TYPE IJ |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D052245 |
TreeNumbers: | C09.218.458.341.186.500.500/614869 |C09.218.458.341.887.886/614869 |C10.597.751.418.341.186.500.500/614869 |C10.597.751.418.341.887.886/614869 |C10.597.751.941.162.625.500/614869 |C11.768.585.658.500.813/614869 |C11.966.075.375.500/614869 |C16.131.077.299.500/6 |
Synonyms: | USH1J |
Slim Mappings: | Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: 614869
MeSH: 614869
OMIM: 614869;
Genes: CIB2; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_006383.3(CIB2):c.192G>C (p.Glu64Asp) | 10518 | CIB2 | Pathogenic | 145415848 | RCV000223233; RCV000032890; | N | MedGen:C1568247,OMIM:276900; MedGen:C3553944,OMIM:614869 | 15 | 78403513 | 78403513 | NM_006383.3:c.192G>C | NP_006374.1:p.Glu64Asp | NC_000015.9:g.78403513C>G | OMIM Allelic Variant:605564.0004 | C1568247 276900 Usher syndrome, type 1; C3553944 614869 Usher syndrome, type 1J | | |
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