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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: Craniosynostoses (D003398)
Parent Node: Ectopia Lentis (D004479)
..Starting node ..Craniosynostosis with Ectopia Lentis (C566357)
Child Nodes:
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:	2844
Name:	Craniosynostosis with Ectopia Lentis
Definition:
Alternative IDs:
ParentIDs:	MESH:D003398\|MESH:D004479
TreeNumbers:	C05.116.099.370.894.232/C566357 \|C05.660.207.240/C566357 \|C05.660.207.707.249/C566357 \|C05.660.906.364/C566357 \|C11.250.300/C566357 \|C11.510.598.373/C566357 \|C16.131.384.405/C566357 \|C16.131.621.207.240/C566357 \|C16.131.621.207.707.249/C566357 \|C16.131.621.906.36
Synonyms:
Slim Mappings:	Congenital abnormality\|Eye disease\|Musculoskeletal disease
Reference:	MedGen: C566357 MeSH: C566357 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants