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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: Abnormalities, Multiple (D000015)
Parent Node: Coloboma (D003103)
Parent Node: Eyelid Neoplasms (D005142)
Parent Node: Lipoma (D008067)
..Starting node ..Nasopalpebral lipoma coloboma syndrome (C538338)
Child Nodes:
Sister Nodes:
..Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
..Lipoblastoma (D062689)
..Lipoma of the Conjunctiva (C563620)
..LIPOMATOSIS, MULTIPLE (OMIM:151900)
..Lipomatous hemangiopericytoma (C537029)
..Median cleft lip, corpus callosum, lipoma, and skin polyps (C536135)
..Nasopalpebral lipoma coloboma syndrome (C538338)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7776
Name:	Nasopalpebral lipoma coloboma syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D003103\|MESH:D005142\|MESH:D008067
TreeNumbers:	C04.557.450.550.400/C538338 \|C04.588.443.392.500/C538338 \|C11.250.110/C538338 \|C11.319.421/C538338 \|C11.338.526/C538338 \|C16.131.077/C538338 \|C16.131.384.282/C538338
Synonyms:	Nasopalpebral Lipoma-Coloboma Syndrome \|Palpebral coloboma lipoma Syndrome \|Palpebral Coloboma-Lipoma Syndrome
Slim Mappings:	Cancer\|Congenital abnormality\|Eye disease
Reference:	MedGen: C538338 MeSH: C538338 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants