Human Phenotype Ontology 
Grandparent Node:
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Epidermal thickening (HP:0011368)help
Parent Node:
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Abnormal skin morphology of the palm (HP:0040211)help
Parent Node:
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Hyperkeratosis (HP:0000962)help
..Starting node
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Palmar hyperkeratosis (HP:0010765)help
Term ID: 10765
Name: Palmar hyperkeratosis
Synonym:
Definition: Abnormal thickening of the skin localized to the palm of the hand.
Comments:
Reference: HP:0010765
Genes and Diseases:
 
       Child Nodes:
........expandPalmoplantar hyperkeratosis (HP:0000972) help
................... HP:0007447 Diffuse palmoplantar hyperkeratosis
................... HP:0007497 Focal friction-related palmoplantar hyperkeratosis
................... HP:0007530 Punctate palmoplantar hyperkeratosis
................... HP:0007545 Congenital palmoplantar keratosis
................... HP:0007548 Palmoplantar keratosis with erythema and scale
................... HP:0007553 Congenital symmetrical palmoplantar keratosis
................... HP:0007613 Spinous keratoses of palms and soles
........expandPunctate palmar hyperkeratosis (HP:0007508) help

 Sister Nodes: 
..expandCircumungual hyperkeratosis (HP:0008399) help
..expandCobblestone-like hyperkeratosis (HP:0031288) help
..expandEpidermal hyperkeratosis (HP:0007543) help
..expandFollicular hyperkeratosis (HP:0007502) help
..expandGeneralized hyperkeratosis (HP:0005595) 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
..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:0010765HP:0010765Palmar hyperkeratosis0KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0010765Palmar hyperkeratosis0KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0010765Palmar hyperkeratosis0NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0010765Palmar hyperkeratosis0NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0010765Palmar hyperkeratosis0SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0010765Palmar hyperkeratosis0SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0010765Palmar hyperkeratosis0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0010765Palmar hyperkeratosis0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0007508Punctate palmar hyperkeratosis1KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0007508Punctate palmar hyperkeratosis1KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0007508Punctate palmar hyperkeratosis1NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0007508Punctate palmar hyperkeratosis1NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0007508Punctate palmar hyperkeratosis1SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0007508Punctate palmar hyperkeratosis1SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0007508Punctate palmar hyperkeratosis1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0010765HP:0007508Punctate palmar hyperkeratosis1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0010765HP:0007404Nonepidermolytic palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0007548Palmoplantar keratosis with erythema and scale2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0007553Congenital symmetrical palmoplantar keratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0007497Focal friction-related palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0007404Nonepidermolytic palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0007548Palmoplantar keratosis with erythema and scale2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0007553Congenital symmetrical palmoplantar keratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0007497Focal friction-related palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0007465Honeycomb palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0000982Palmoplantar keratoderma2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0007545Congenital palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0007613Spinous keratoses of palms and soles2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1786443148041
HP:0010765HP:0007465Honeycomb palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0000982Palmoplantar keratoderma2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0007545Congenital palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0007613Spinous keratoses of palms and soles2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1776443148041
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0007553Congenital symmetrical palmoplantar keratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0007497Focal friction-related palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0007404Nonepidermolytic palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0007548Palmoplantar keratosis with erythema and scale2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0007553Congenital symmetrical palmoplantar keratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0007497Focal friction-related palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0007404Nonepidermolytic palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0007548Palmoplantar keratosis with erythema and scale2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0007545Congenital palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0007613Spinous keratoses of palms and soles2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0007465Honeycomb palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0000982Palmoplantar keratoderma2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13819688609607
HP:0010765HP:0007545Congenital palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0007613Spinous keratoses of palms and soles2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0007465Honeycomb palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0000982Palmoplantar keratoderma2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2NECTIN4 CL E G H81607613573Ectodermal dysplasia-syndactyly syndrome 1613573C3150807OMIM13519688609607
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0007553Congenital symmetrical palmoplantar keratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0007497Focal friction-related palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0007404Nonepidermolytic palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0007548Palmoplantar keratosis with erythema and scale2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0007553Congenital symmetrical palmoplantar keratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0007497Focal friction-related palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0007404Nonepidermolytic palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0007548Palmoplantar keratosis with erythema and scale2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0007545Congenital palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0007613Spinous keratoses of palms and soles2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0007465Honeycomb palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0000982Palmoplantar keratoderma2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15818398612761
HP:0010765HP:0007545Congenital palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0007613Spinous keratoses of palms and soles2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0007465Honeycomb palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0000982Palmoplantar keratoderma2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2SMARCAD1 CL E G H56916136000Adermatoglyphia136000C1852150OMIM15618398612761
HP:0010765HP:0007404Nonepidermolytic palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0007548Palmoplantar keratosis with erythema and scale2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0007553Congenital symmetrical palmoplantar keratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0007497Focal friction-related palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0007404Nonepidermolytic palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0010765HP:0007548Palmoplantar keratosis with erythema and scale2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0010765HP:0007553Congenital symmetrical palmoplantar keratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0010765HP:0007497Focal friction-related palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0010765HP:0007465Honeycomb palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0000982Palmoplantar keratoderma2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0007545Congenital palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0007613Spinous keratoses of palms and soles2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0010765HP:0007465Honeycomb palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0010765HP:0000982Palmoplantar keratoderma2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0010765HP:0007545Congenital palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0010765HP:0007613Spinous keratoses of palms and soles2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (147) :AAAS AAGAB ABCA12 ABCC9 ACTC1 ACTN2 AKT1 ALOX12B ALOXE3 ANKRD1 ATP2A2 BAG3 BRAF CARD14 CAST CD28 CERS3 COG6 COL14A1 COL17A1 CRYAB CSRP3 CSTA CTC1 CTLA4 CTSC CYP4F22 DES DKC1 DMD DOLK DSC2 DSG1 DSG2 DSP ENPP1 FERMT1 FGFR2 FHL2 FKTN GATAD1 GJA1 GJB2 GJB3 GJB4 GJB6 GMPPA HPGD ITGB4 JUP KANK2 KDSR KLLN KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT83 KRT9 LAMA3 LAMA4 LAMB3 LAMC2 LDB3 LEMD3 LOR MAP2K1 MAP2K2 MBTPS2 MCOLN1 MYBPC3 MYH6 MYH7 MYPN NEBL NECTIN1 NECTIN4 NEXN NHP2 NIPAL4 NLRP1 NOP10 PARN PEPD PIGL PIK3CA PKP1 PLEC PLN PNPLA1 POMP PPCS PRDM16 PSEN1 PSEN2 PTEN RAF1 RBM20 RECQL4 RHBDF2 RSPO1 RTEL1 SCN5A SDHA SDHB SDHC SDHD SDR9C7 SEC23B SERPINB7 SGCD SLCO2A1 SLURP1 SMARCAD1 SNAP29 TAF1A TAT TAZ TCAP TERC TERT TGM1 TINF2 TMPO TNFRSF1B TNNC1 TNNI3 TNNT2 TP63 TPM1 TRAPPC11 TRNS1 TRPV3 TTN TXNRD2 USB1 VCL WNT10A WRAP53 ZC4H2

Diseases (128) :615726 613573 136000 314580 231550 615109 615328 678 245000 173650 1010 104100 148350 129500 259100 617526 113800 607602 144200 609165 125595 131760 131900 167200 167210 617756 300918 225060 3253 280000 615108 226670 158350 617574 242300 869 79501 148600 79394 601277 154 201 242100 606545 218 1340 2897 173200 616295 3162 79402 607936 1775 245010 604777 610476 50942 615508 148700 65282 615821 605676 612908 607655 615522 2908 1555 617525 2710 317 494 477 2698 2202 602540 124500 133200 617524 189 2796 34217 601214 616099 316 312 2199 607654 600962 89838 79400 79399 79397 79396 161000 2309 613000 455 131960 615728 615735 1306 79395 659 308800 578 612281 615225 742 158668 615024 281201 601952 221016 2198 148500 85112 610644 140966 248300 384 609528 28378 1071 106260 614594 616400 50944 224750
 

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