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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: Foot Deformities, Congenital (D005532)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Nystagmus, Pathologic (D009759)
..Starting node ..Split hand split foot nystagmus (C537319)
Child Nodes:
Sister Nodes:
..Episodic ataxia with nystagmus (C535506)
..Hereditary vertical nystagmus (C537857)
..Neuhauser Daly Magnelli syndrome (C536406)
..Nystagmus, Congenital (D020417) 17
..Nystagmus, Myoclonic (C564088)
..Singh Chhaparwal Dhanda syndrome (C537341)
..Split hand split foot nystagmus (C537319)
..Zonular cataract and nystagmus (C536727)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10559
Name:	Split hand split foot nystagmus
Definition:
Alternative IDs:
ParentIDs:	MESH:D005532\|MESH:D006228\|MESH:D009759
TreeNumbers:	C05.330.495/C537319 \|C05.390.408/C537319 \|C05.660.585.512.380/C537319 \|C05.660.585.988.425/C537319 \|C10.292.562.675/C537319 \|C11.590.400/C537319 \|C16.131.621.585.380/C537319 \|C16.131.621.585.425/C537319
Synonyms:	Karsch-Neugebauer syndrome \|Nystagmus-Split Hand Syndrome \|Split hand nystagmus syndrome \|Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Slim Mappings:	Congenital abnormality\|Eye disease\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: C537319 MeSH: C537319 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants