Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Hypotrichosis (D007039)
Parent Node: Keratoderma, Palmoplantar (D007645)
Parent Node: Osteolysis (D010014)
Parent Node: Periodontitis (D010518)
..Starting node ..Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
Child Nodes:
Sister Nodes:
..Aggressive Periodontitis (D010520)
..Chronic Periodontitis (D055113)
..Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
..Periapical Periodontitis (D010485) 2
..Periodontal Abscess (D010508)
..Periodontal Pocket (D010514)
..Periodontitis, Aggressive, 2 (C566946)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5652
Name:	Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D007039\|MESH:D007645\|MESH:D010014\|MESH:D010518
TreeNumbers:	C05.116.264.579/C564357 \|C07.465.714.533/C564357 \|C16.320.850.475/C564357 \|C17.800.329.937/C564357 \|C17.800.428.435/C564357 \|C17.800.827.475/C564357
Synonyms:
Slim Mappings:	Genetic disease (inborn)\|Mouth disease\|Musculoskeletal disease\|Skin disease
Reference:	MedGen: C564357 MeSH: C564357 OMIM: 607658; Genes:
Phenotypes
Disease Causing ClinVar Variants