MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: benign neoplasm of eye (MONDO:0021454)
Parent Node: benign neoplasm of skin (MONDO:0021440)
Parent Node: eyelid neoplasm (MONDO:0002235)
..Starting node ..benign eyelid neoplasm ()
Child Nodes:
........benign tumor of palpebral epidermis ()
........eyelid capillary hemangioma ()
........papilloma of eyelid ()
........Wyburn-Mason syndrome ()
Sister Nodes:
..benign eyelid neoplasm ()
..eyelid cancer ()
..Goldenhar syndrome ()
..mesenchymatous palpebral tumor ()
..neurogenic palpebral tumor ()
..palpebral epidermal tumor ()
..palpebral piliary tumor ()
..palpebral sebaceous gland tumor ()
..palpebral tumor with a vascular malformation ()
..pigmented palpebral tumor ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21605
Name:	benign eyelid neoplasm
Definition:	A non-metastasizing neoplasm that arises from the upper or lower eyelid.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign eyelid neoplasm; benign eyelid tumor; benign neoplasm of eyelid; benign neoplasm of the eyelid; benign tumor of eyelid; benign tumor of the eyelid; eyelid benign neoplasm
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal