Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Anophthalmos (D000853)
..Starting node ..Anophthalmia plus syndrome (C537767)
Child Nodes:
Sister Nodes:
..Anophthalmia plus syndrome (C537767)
..Anophthalmia with pulmonary hypoplasia (C537768)
..Arroyo Garcia Cimadevilla syndrome (C537439)
..Cerebrooculonasal Syndrome (C565313)
..Leichtman Wood Rohn syndrome (C537003)
..Microphthalmia, syndromic 1 (C537464)
..Samson Viljoen syndrome (C537231)
..Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	731
Name:	Anophthalmia plus syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000853
TreeNumbers:	C11.250.080/C537767 \|C16.131.384.159/C537767
Synonyms:	Anophthalmia-Plus Syndrome \|Fryns anophthalmia syndrome \|Fryns Microphthalmia Syndrome \|Microphthalmia with Facial Clefting
Slim Mappings:	Congenital abnormality\|Eye disease
Reference:	MedGen: C537767 MeSH: C537767 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants