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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

Disease Browser
Parent Node: Waardenburg Syndrome (D014849)
..Starting node ..Waardenburg syndrome, type 4 (C536467)
Child Nodes:
........WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11686
Name:	Waardenburg syndrome, type 4
Definition:
Alternative IDs:
ParentIDs:	MESH:D014849
TreeNumbers:	C16.131.077.938/C536467
Synonyms:	Hirschsprung disease with pigmentary anomaly \|Shah-Waardenburg syndrome \|Waardenburg-Hirschsprung disease \|Waardenburg-Shah syndrome \|Waardenburg Syndrome, Type 4a \|Waardenburg Syndrome, Type Iva \|Waardenburg Syndrome With Hirschsprung Disease, Type 4a
Slim Mappings:	Congenital abnormality
Reference:	MedGen: C536467 MeSH: C536467 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants