Human Phenotype Ontology 
Grandparent Node:
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Epidermal thickening (HP:0011368)help
Parent Node:
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Hyperkeratosis (HP:0000962)help
..Starting node
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Generalized hyperkeratosis (HP:0005595)help
Term ID: 5595
Name: Generalized hyperkeratosis
Synonym: Generalised hyperkeratosis; Hyperkeratosis, generalised; Hyperkeratosis, generalized
Definition:
Comments:
Reference: HP:0005595
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCircumungual hyperkeratosis (HP:0008399) help
..expandCobblestone-like hyperkeratosis (HP:0031288) help
..expandEpidermal hyperkeratosis (HP:0007543) help
..expandFollicular hyperkeratosis (HP:0007502) help
..expandGingival hyperkeratosis (HP:0000222) help
..expandHyperkeratosis lenticularis perstans (HP:0007570) help
..expandHyperkeratosis over edematous areas (HP:0007448) help
..expandHyperkeratosis with erythema (HP:0007390) help
..expandHyperkeratotic papule (HP:0045059) help
..expandHyperparakeratosis (HP:0040009) help
..expandLinear arrays of macular hyperkeratoses in flexural areas (HP:0007490) help
..expandobsolete Hyperkeratosis pilaris (HP:0040180) help
..expandOrthokeratotic hyperkeratosis (HP:0025080) help
..expandPalmar hyperkeratosis (HP:0010765) help
..expandPalmoplantar keratoderma (HP:0000982) help
..expandPerifollicular hyperkeratosis (HP:0007468) help
..expandPlantar hyperkeratosis (HP:0007556) help
..expandStreaks of hyperkeratosis along each finger onto the palm (HP:0007501) help
..expandSubungual hyperkeratosis (HP:0008392) help
..expandSubungual hyperkeratotic fragments (HP:0008410) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0005595HP:0005595Generalized hyperkeratosis0AKT1 CL E G H207201ORPHA1417391164730
HP:0005595HP:0005595Generalized hyperkeratosis0AKT1 CL E G H207201ORPHA1380391164730
HP:0005595HP:0005595Generalized hyperkeratosis0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1417391164730
HP:0005595HP:0005595Generalized hyperkeratosis0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA1380391164730
HP:0005595HP:0005595Generalized hyperkeratosis0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA11884006612280
HP:0005595HP:0005595Generalized hyperkeratosis0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA11374006612280
HP:0005595HP:0005595Generalized hyperkeratosis0GJB2 CL E G H2706477ORPHA14824284121011
HP:0005595HP:0005595Generalized hyperkeratosis0GJB2 CL E G H2706477ORPHA14604284121011
HP:0005595HP:0005595Generalized hyperkeratosis0GJB3 CL E G H2707133200Erythrokeratodermia variabilis133200C0265961OMIM11564285603324
HP:0005595HP:0005595Generalized hyperkeratosis0GJB3 CL E G H2707133200Erythrokeratodermia variabilis133200C0265961OMIM11454285603324
HP:0005595HP:0005595Generalized hyperkeratosis0GJB6 CL E G H10804477ORPHA12234288604418
HP:0005595HP:0005595Generalized hyperkeratosis0GJB6 CL E G H10804477ORPHA12144288604418
HP:0005595HP:0005595Generalized hyperkeratosis0KLLN CL E G H100144748201ORPHA127037212612105
HP:0005595HP:0005595Generalized hyperkeratosis0KLLN CL E G H100144748201ORPHA124837212612105
HP:0005595HP:0005595Generalized hyperkeratosis0KRT14 CL E G H386179399ORPHA11556416148066
HP:0005595HP:0005595Generalized hyperkeratosis0KRT14 CL E G H386179399ORPHA11486416148066
HP:0005595HP:0005595Generalized hyperkeratosis0KRT5 CL E G H385279399ORPHA12526442148040
HP:0005595HP:0005595Generalized hyperkeratosis0KRT5 CL E G H385279399ORPHA12416442148040
HP:0005595HP:0005595Generalized hyperkeratosis0LMNA CL E G H40001662ORPHA114866636150330
HP:0005595HP:0005595Generalized hyperkeratosis0LMNA CL E G H40001662ORPHA113476636150330
HP:0005595HP:0005595Generalized hyperkeratosis0PIK3CA CL E G H5290201ORPHA16138975171834
HP:0005595HP:0005595Generalized hyperkeratosis0PIK3CA CL E G H5290201ORPHA15448975171834
HP:0005595HP:0005595Generalized hyperkeratosis0PTEN CL E G H5728201ORPHA124169588601728
HP:0005595HP:0005595Generalized hyperkeratosis0PTEN CL E G H5728201ORPHA122469588601728
HP:0005595HP:0005595Generalized hyperkeratosis0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA124169588601728
HP:0005595HP:0005595Generalized hyperkeratosis0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA122469588601728
HP:0005595HP:0005595Generalized hyperkeratosis0SDHB CL E G H6390201ORPHA192610681185470
HP:0005595HP:0005595Generalized hyperkeratosis0SDHB CL E G H6390201ORPHA182410681185470
HP:0005595HP:0005595Generalized hyperkeratosis0SDHC CL E G H6391201ORPHA157510682602413
HP:0005595HP:0005595Generalized hyperkeratosis0SDHC CL E G H6391201ORPHA152610682602413
HP:0005595HP:0005595Generalized hyperkeratosis0SDHD CL E G H6392201ORPHA150710683602690
HP:0005595HP:0005595Generalized hyperkeratosis0SDHD CL E G H6392201ORPHA144210683602690
HP:0005595HP:0005595Generalized hyperkeratosis0SEC23B CL E G H10483201ORPHA123610702610512
HP:0005595HP:0005595Generalized hyperkeratosis0SEC23B CL E G H10483201ORPHA122210702610512
HP:0005595HP:0005595Generalized hyperkeratosis0ZMPSTE24 CL E G H102691662ORPHA116712877606480
HP:0005595HP:0005595Generalized hyperkeratosis0ZMPSTE24 CL E G H102691662ORPHA114912877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (16) :AKT1 FUCA1 GJB2 GJB3 GJB6 KLLN KRT14 KRT5 LMNA PIK3CA PTEN SDHB SDHC SDHD SEC23B ZMPSTE24

Diseases (7) :201 744 349 477 133200 79399 1662
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.