Disease Browser
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Parent Node: Waardenburg Syndrome (D014849) | ..Starting node ..Waardenburg Syndrome, Type 2D (C563839)
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Sister Nodes: | ..ABCD syndrome (C535334)
| ..Anophthalmos with limb anomalies (C537769)
| ..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
| ..Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome (C538657)
| ..Waardenburg syndrome type 2 (C536463)
| ..Waardenburg syndrome type 2A (C536464)
| ..Waardenburg syndrome type 2B (C536465)
| ..Waardenburg Syndrome, Type 2C (C564684)
| ..Waardenburg Syndrome, Type 2D (C563839)
| ..Waardenburg syndrome, type 4 (C536467) 1
| ..Waardenburg Syndrome, Type 4b (C567680)
| ..Waardenburg Syndrome, Type 4c (C567679)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 11685 |
Name: | Waardenburg Syndrome, Type 2D |
Definition: | |
Alternative IDs: | OMIM:608890 |
ParentIDs: | MESH:D014849 |
TreeNumbers: | C16.131.077.938/C563839 |
Synonyms: | Waardenburg Syndrome, Type IID |WS2D |
Slim Mappings: | Congenital abnormality |
Reference: |
MedGen: C563839
MeSH: C563839
OMIM: 608890;
Genes: SNAI2; | 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 | NG_012130.1:g.(?_5165)_(7623_?)del | 6591 | SNAI2 | Pathogenic | -1 | RCV000007932; | N | MedGen:C1837203,OMIM:608890 | 8 | 49831366 | 49833824 | - | - | | OMIM Allelic Variant:602150.0001 | C1837203 608890 Waardenburg syndrome type 2D | | |
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