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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

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Disease Browser
Parent Node: Diseases (C)
Parent Node: Palmoplantar Keratoderma, Nonepidermolytic (C563422)
..Starting node ..PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL (OMIM:613000)
Child Nodes:
Sister Nodes:
..PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL (OMIM:613000)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8532

Name:

PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL

Definition:

Alternative IDs:

ParentIDs:

MESH:C563422

TreeNumbers:

C16.320.850.475.440/C563422/613000 |C17.800.428.435.440/C563422/613000 |C17.800.827.475.440/C563422/613000

Synonyms:

FNEPPK |FOCAL NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA |KERATODERMA, FOCAL NONEPIDERMOLYTIC PALMOPLANTAR |PPKFNE

Slim Mappings:

Genetic disease (inborn)|Skin disease

Reference:

MedGen: 613000
MeSH: 613000
OMIM: 613000;

Genes: KRT16;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000982	Palmoplantar keratoderma

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_005557.3(KRT16):c.379C>T (p.Arg127Cys)	3868	KRT16	Pathogenic	59856285	RCV000015705; RCV000057038;	N	MedGen:C2751804,OMIM:613000; MedGen:CN221809	17	39768562	39768562	NM_005557.3:c.379C>T	NP_005548.2:p.Arg127Cys	NC_000017.10:g.39768562G>A	OMIM Allelic Variant:148067.0002	CN221809 not provided; C2751804 613000 Palmoplantar keratoderma, nonepidermolytic, focal
NM_005557.3(KRT16):c.374A>G (p.Asn125Ser)	3868	KRT16	Pathogenic	60723330	RCV000144080; RCV000015706; RCV000057037;	N	MedGen:C1706595,OMIM:167200; MedGen:C2751804,OMIM:613000; MedGen:CN221809	17	39768567	39768567	NM_005557.3:c.374A>G	NP_005548.2:p.Asn125Ser	NC_000017.10:g.39768567T>C	OMIM Allelic Variant:148067.0003	CN221809 not provided; C1706595 167200 Pachyonychia congenita, type 1; C2751804 613000 Palmoplantar keratoderma, nonepidermolytic, focal
NM_173086.4(KRT6C):c.1384_1410del27 (p.Ile462_Glu470del)	286887	KRT6C	Pathogenic	267607475	RCV000114417; RCV000057499;	N	MedGen:C2751804,OMIM:613000; MedGen:CN221809	12	52863468	52863494	NM_173086.4:c.1384_1410del27	NP_775109.2:p.Ile462_Glu470del	NC_000012.11:g.52863468_52863494del27	OMIM Allelic Variant:612315.0002	CN221809 not provided; C2751804 613000 Palmoplantar keratoderma, nonepidermolytic, focal
NM_173086.4(KRT6C):c.516_518delCAA (p.Asn172del)	286887	KRT6C	Pathogenic	267607474	RCV000114416; RCV000057500;	N	MedGen:C2751804,OMIM:613000; MedGen:CN221809	12	52867004	52867006	NM_173086.4:c.516_518delCAA	NP_775109.2:p.Asn172del	NC_000012.11:g.52867004_52867006delTTG	OMIM Allelic Variant:612315.0001	CN221809 not provided; C2751804 613000 Palmoplantar keratoderma, nonepidermolytic, focal