Disease Browser
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Parent Node: Hearing Loss, Conductive (D006314) | Parent Node: Intellectual Disability (D008607) | Parent Node: Myopia (D009216) | ..Starting node ..Deafness, Cochlear, with Myopia and Intellectual Impairment (C565645)
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Sister Nodes: | ..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
| ..Blepharoptosis myopia ectopia lentis (C536236)
| ..Bornholm Eye Disease (C564092)
| ..Cohen syndrome (C536438)
| ..Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy (C535985)
| ..Deafness, Cochlear, with Myopia and Intellectual Impairment (C565645)
| ..Donnai-Barrow syndrome (C536390)
| ..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
| ..Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
| ..Gastrocutaneous syndrome (C535651)
| ..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
| ..MASS syndrome (C536030)
| ..Microphthalmia, Isolated, With Corectopia (C563581)
| ..Mousa Al din Al Nassar syndrome (C536989)
| ..Myopia 1 (C564091)
| ..Myopia 10 (C563758)
| ..Myopia 11 (C566490)
| ..Myopia 12 (C566489)
| ..Myopia 13 (C564473)
| ..Myopia 14 (C565202)
| ..Myopia 15 (C567193)
| ..Myopia 16 (C567259)
| ..Myopia 18, Autosomal Recessive (C567606)
| ..MYOPIA 19, AUTOSOMAL DOMINANT (OMIM:613969)
| ..Myopia 2 (C563541)
| ..MYOPIA 20, AUTOSOMAL DOMINANT (OMIM:614166)
| ..Myopia 3 (C566397)
| ..Myopia 5 (C563922)
| ..Myopia 6 (C536105)
| ..Myopia 7 (C563761)
| ..Myopia 8 (C563760)
| ..Myopia 9 (C563759)
| ..Myopia, Degenerative (D047728)
| ..Night blindness skeletal anomalies unusual facies (C536121)
| ..Night blindness, congenital stationary (C536122) 4
| ..Noble Bass Sherman syndrome (C536124)
| ..Ophthalmoplegia, External, and Myopia (C564087)
| ..Polydactyly myopia syndrome (C536331)
| ..Sinus Node Disease and Myopia (C566690)
| ..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
| ..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 3098 |
Name: | Deafness, Cochlear, with Myopia and Intellectual Impairment |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D006314|MESH:D008607|MESH:D009216 |
TreeNumbers: | C09.218.458.341.562/C565645 |C10.597.606.643/C565645 |C10.597.751.418.341.562/C565645 |C11.744.636/C565645 |C23.888.592.604.646/C565645 |C23.888.592.763.393.341.562/C565645 |F03.550.600/C565645 |
Synonyms: | |
Slim Mappings: | Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: C565645
MeSH: C565645
OMIM: 221200;
Genes: SLITRK6; | 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_032229.2(SLITRK6):c.1240C>T (p.Gln414Ter) | 84189 | SLITRK6 | Pathogenic | 587777069 | RCV000074448; | N | MedGen:C1857342,OMIM:221200 | 13 | 86369404 | 86369404 | NM_032229.2:c.1240C>T | NP_115605.2:p.Gln414Ter | NC_000013.10:g.86369404G>A | OMIM Allelic Variant:609681.0001 | C1857342 221200 Deafness, cochlear, with myopia and intellectual impairment | | | NM_032229.2(SLITRK6):c.890C>A (p.Ser297Ter) | 84189 | SLITRK6 | Pathogenic | 587777070 | RCV000074449; | N | MedGen:C1857342,OMIM:221200 | 13 | 86369754 | 86369754 | NM_032229.2:c.890C>A | NP_115605.2:p.Ser297Ter | 13:g.86369754G>T | OMIM Allelic Variant:609681.0002 | C1857342 221200 Deafness, cochlear, with myopia and intellectual impairment | | | NM_032229.2(SLITRK6):c.541C>T (p.Arg181Ter) | 84189 | SLITRK6 | Pathogenic | 587777071 | RCV000074450; | N | MedGen:C1857342,OMIM:221200 | 13 | 86370103 | 86370103 | NM_032229.2:c.541C>T | NP_115605.2:p.Arg181Ter | NC_000013.10:g.86370103G>A | OMIM Allelic Variant:609681.0003 | C1857342 221200 Deafness, cochlear, with myopia and intellectual impairment | | |
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