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: Eye Abnormalities (D005124)
Parent Node: Lens Subluxation (D007906)
..Starting node ..Ectopia Lentis (D004479)
Child Nodes:
........Blepharoptosis myopia ectopia lentis (C536236)
........Craniosynostosis with Ectopia Lentis (C566357)
........Ectopia Lentis with Ectopia of Pupil (C563268)
........Ectopia Lentis, Isolated, Autosomal Recessive (C567124) 1
........Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism (C563293)
........Familial ectopia lentis (C536184) 1
........GEMSS syndrome (C537679)
........Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
........Microspherophakia (C563255)
........Noble Bass Sherman syndrome (C536124)
........Zazam Sheriff Phillips syndrome (C536723)
Sister Nodes:
..Ectopia Lentis (D004479) 13
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3628
Name:	Ectopia Lentis
Definition:	Congenital displacement of the lens resulting from defective zonule formation.
Alternative IDs:
ParentIDs:	MESH:D005124\|MESH:D007906
TreeNumbers:	C11.250.300 \|C11.510.598.373 \|C16.131.384.405
Synonyms:	Lentis, Ectopia
Slim Mappings:	Congenital abnormality\|Eye disease
Reference:	MedGen: D004479 MeSH: D004479 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants