Disease browser and phenotype 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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Keratoderma, Palmoplantar (D007645)
Parent Node: Porokeratosis (D017499)
..Starting node ..Porokeratosis punctata palmaris et plantaris (C536338)
Child Nodes:
Sister Nodes:
..Congenital facial linear porokeratosis (C538641)
..Craniosynostosis, anal anomalies, and porokeratosis (C536789)
..POROKERATOSIS 6, DISSEMINATED SUPERFICIAL ACTINIC TYPE (OMIM:612353)
..Porokeratosis punctata palmaris et plantaris (C536338)
..Porokeratosis, disseminated superficial actinic 1 (C536339)
..Porokeratosis, Disseminated Superficial Actinic, 3 (C567356)
..Porokeratosis, Disseminated Superficial Actinic, 4 (C567339)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9142

Name:

Porokeratosis punctata palmaris et plantaris

Definition:

Alternative IDs:

OMIM:175850

ParentIDs:

MESH:D007645|MESH:D017499

TreeNumbers:

C16.320.850.475/C536338 |C16.320.850.730/C536338 |C17.800.428.435/C536338 |C17.800.428.750/C536338 |C17.800.827.475/C536338 |C17.800.827.730/C536338

Synonyms:

Keratoderma, Palmoplantar, Punctate Type Ii |POROK2 |POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE |POROKERATOSIS PALMARIS ET PLANTARIS DISSEMINATA |POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED |POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED,

Slim Mappings:

Genetic disease (inborn)|Skin disease

Reference:

MedGen: C536338
MeSH: C536338
OMIM: 175850;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0100869	Palmar telangiectasia
3	HP:0100870	Plantar telangiectasia
4	HP:0200044	Porokeratosis

Disease Causing ClinVar Variants