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: eye neoplasm (MONDO:0021220)
Parent Node: eyelid disease (MONDO:0003382)
Parent Node: skin neoplasm (MONDO:0002531)
..Starting node ..eyelid neoplasm ()
Child 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 ()
Sister Nodes:
..actinic keratosis (disease) ()
..benign dermal neurilemmoma ()
..benign neoplasm of skin ()
..calcifying epithelial odontogenic tumor ()
..cutaneous ganglioneuroma ()
..dermis tumor ()
..dermoid cyst of skin ()
..epidermal appendage tumor ()
..epithelial skin neoplasm ()
..eyelid neoplasm ()
..familial Dupuytren contracture ()
..hemangiopericytoma of skin ()
..inherited skin tumor ()
..melanocytic skin neoplasm ()
..skin cancer ()
..skin tag ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2235
Name:	eyelid neoplasm
Definition:	A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	eyelid neoplasm; eyelid neoplasm (disease); eyelid tumor; neoplasm of eyelid; neoplasm of the eyelid; palpebral tumor; tumor of eyelid; tumor of the eyelid
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal