Disease browser and phenotype portal

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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: Cerebellar Ataxia (D002524)
Parent Node: Foot Deformities, Congenital (D005532)
Parent Node: Hearing Loss, Sensorineural (D006319)
Parent Node: Optic Atrophy (D009896)
Parent Node: Reflex, Abnormal (D012021)
..Starting node ..CAPOS syndrome (C535351)
Child Nodes:
Sister Nodes:
..Bahemuka Brown syndrome (C537797)
..CAPOS syndrome (C535351)
..External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..Hyperekplexia and Epilepsy (C564474)
..Marcus Gunn phenomenon (C535908)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1631
Name:	CAPOS syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D002524\|MESH:D005532\|MESH:D006319\|MESH:D009896\|MESH:D012021
TreeNumbers:	C05.330.495/C535351 \|C05.660.585.512.380/C535351 \|C09.218.458.341.887/C535351 \|C10.228.140.252.190/C535351 \|C10.292.700.225/C535351 \|C10.597.350.090.500/C535351 \|C10.597.704/C535351 \|C10.597.751.418.341.887/C535351 \|C11.640.451/C535351 \|C16.131.621.585.380/C53535
Synonyms:	CAPOS \|Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss \|Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss \|Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hea
Slim Mappings:	Congenital abnormality\|Ear-nose-throat disease\|Eye disease\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C535351 MeSH: C535351 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants