Disease Browser
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Parent Node: Waardenburg Syndrome (D014849) | ..Starting node ..ABCD syndrome (C535334)
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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: | 63 |
Name: | ABCD syndrome |
Definition: | |
Alternative IDs: | OMIM:600501 |
ParentIDs: | MESH:D014849 |
TreeNumbers: | C16.131.077.938/C535334 |
Synonyms: | ABCDS |Albinism, Black lock, Cell migration disorder of the neurocytes of the gut, and Deafness |
Slim Mappings: | Congenital abnormality |
Reference: |
MedGen: C535334
MeSH: C535334
OMIM: 600501;
Genes: EDNRB; | 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_000115.3(EDNRB):c.601C>T (p.Arg201Ter) | -1 | - | Pathogenic | 104894391 | RCV000018120; | N | MedGen:C1838099,OMIM:600501 | 13 | 78477491 | 78477491 | NM_000115.3:c.601C>T | NP_000106.1:p.Arg201Ter | NC_000013.10:g.78477491G>A | OMIM Allelic Variant:131244.0008 | C1838099 600501 ABCD syndrome | | |
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