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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: Craniofacial Abnormalities (D019465)
Parent Node: Empty Sella Syndrome (D004652)
..Starting node ..Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells (C565731)
Child Nodes:
Sister Nodes:
..Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells (C565731)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2816
Name:	Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
Definition:
Alternative IDs:
ParentIDs:	MESH:D004652\|MESH:D019465
TreeNumbers:	C05.660.207/C565731 \|C10.228.140.617.738.200/C565731 \|C16.131.621.207/C565731 \|C19.700.320/C565731
Synonyms:
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: C565731 MeSH: C565731 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants