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: pre-malignant neoplasm (MONDO:0000611)
Parent Node: skin neoplasm (MONDO:0002531)
..Starting node ..actinic keratosis (disease) ()
Child Nodes:
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:	5173
Name:	actinic keratosis (disease)
Definition:	A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	actinic (solar) keratosis; actinic keratosis; Senile hyperkeratosis; Senile keratosis; senile keratosis; SK - solar keratosis; solar keratosis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal