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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: Ectopia Lentis (D004479)
..Starting node ..Familial ectopia lentis (C536184)
Child Nodes:
........ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Sister 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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4133
Name:	Familial ectopia lentis
Definition:
Alternative IDs:
ParentIDs:	MESH:D004479
TreeNumbers:	C11.250.300/C536184 \|C11.510.598.373/C536184 \|C16.131.384.405/C536184
Synonyms:	Ectopia Lentis, Familial \|Ectopia lentis isolated \|Ectopia Lentis, Isolated \|Isolated ectopia lentis
Slim Mappings:	Congenital abnormality\|Eye disease
Reference:	MedGen: C536184 MeSH: C536184 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants