Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nail (HP:0001597)help
Parent Node:
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Abnormal toenail morphology (HP:0008388)help
Parent Node:
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Aplasia/Hypoplasia of the nails (HP:0008386)help
..Starting node
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Aplastic/hypoplastic toenail (HP:0010624)help
Term ID: 10624
Name: Aplastic/hypoplastic toenail
Synonym: Absent/small toenails; Absent/underdeveloped toenails; Aplastic/hypoplastic toenails; Hypoplastic-absent toenails
Definition: Absence or underdevelopment of the toenail.
Comments:
Reference: HP:0010624
Genes and Diseases:
 
       Child Nodes:
........expandHypoplastic toenails (HP:0001800) help
................... HP:0011937 Hypoplastic fifth toenail
........expandAbsent toenail (HP:0001802) help
................... HP:0012555 Absent nail of hallux
................... HP:0200105 Absent fifth toenail

 Sister Nodes: 
..expandAnonychia (HP:0001798) help
..expandShort nail (HP:0001799) help
..expandSmall nail (HP:0001792) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010624HP:0010624Aplastic/hypoplastic toenail0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0010624HP:0010624Aplastic/hypoplastic toenail0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0010624HP:0010624Aplastic/hypoplastic toenail0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA191826169613129
HP:0010624HP:0010624Aplastic/hypoplastic toenail0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA172926169613129
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14262890300126
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13962890300126
HP:0010624HP:0010624Aplastic/hypoplastic toenail0GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11494220601146
HP:0010624HP:0010624Aplastic/hypoplastic toenail0GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11244220601146
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA113614377606470
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111314377606470
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1827866602991
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1637866602991
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18814378606471
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18014378606471
HP:0010624HP:0010624Aplastic/hypoplastic toenail0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13568609604212
HP:0010624HP:0010624Aplastic/hypoplastic toenail0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA12668609604212
HP:0010624HP:0010624Aplastic/hypoplastic toenail0RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160515888608833
HP:0010624HP:0010624Aplastic/hypoplastic toenail0RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1133915888608833
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0010624HP:0010624Aplastic/hypoplastic toenail0SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129111727602322
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA122711727602322
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1188711730187270
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160611730187270
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA128811824604319
HP:0010624HP:0010624Aplastic/hypoplastic toenail0TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA123011824604319
HP:0010624HP:0010624Aplastic/hypoplastic toenail0USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118125792613276
HP:0010624HP:0010624Aplastic/hypoplastic toenail0USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111825792613276
HP:0010624HP:0010624Aplastic/hypoplastic toenail0WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129725522612661
HP:0010624HP:0010624Aplastic/hypoplastic toenail0WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118525522612661
HP:0010624HP:0001802Absent toenail1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0010624HP:0001802Absent toenail1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0010624HP:0001800Hypoplastic toenails1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0010624HP:0001800Hypoplastic toenails1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0010624HP:0001802Absent toenail1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA191826169613129
HP:0010624HP:0001802Absent toenail1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA172926169613129
HP:0010624HP:0001800Hypoplastic toenails1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA191826169613129
HP:0010624HP:0001800Hypoplastic toenails1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA172926169613129
HP:0010624HP:0001802Absent toenail1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14262890300126
HP:0010624HP:0001802Absent toenail1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13962890300126
HP:0010624HP:0001800Hypoplastic toenails1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14262890300126
HP:0010624HP:0001800Hypoplastic toenails1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13962890300126
HP:0010624HP:0001802Absent toenail1GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11494220601146
HP:0010624HP:0001802Absent toenail1GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11244220601146
HP:0010624HP:0001800Hypoplastic toenails1GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11494220601146
HP:0010624HP:0001800Hypoplastic toenails1GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11244220601146
HP:0010624HP:0001802Absent toenail1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA113614377606470
HP:0010624HP:0001802Absent toenail1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111314377606470
HP:0010624HP:0001800Hypoplastic toenails1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA113614377606470
HP:0010624HP:0001800Hypoplastic toenails1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111314377606470
HP:0010624HP:0001802Absent toenail1NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1827866602991
HP:0010624HP:0001802Absent toenail1NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1637866602991
HP:0010624HP:0001800Hypoplastic toenails1NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1827866602991
HP:0010624HP:0001800Hypoplastic toenails1NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1637866602991
HP:0010624HP:0001802Absent toenail1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18814378606471
HP:0010624HP:0001802Absent toenail1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18014378606471
HP:0010624HP:0001800Hypoplastic toenails1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18814378606471
HP:0010624HP:0001800Hypoplastic toenails1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18014378606471
HP:0010624HP:0001802Absent toenail1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13568609604212
HP:0010624HP:0001802Absent toenail1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA12668609604212
HP:0010624HP:0001800Hypoplastic toenails1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13568609604212
HP:0010624HP:0001800Hypoplastic toenails1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA12668609604212
HP:0010624HP:0001802Absent toenail1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160515888608833
HP:0010624HP:0001802Absent toenail1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1133915888608833
HP:0010624HP:0001800Hypoplastic toenails1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160515888608833
HP:0010624HP:0001800Hypoplastic toenails1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1133915888608833
HP:0010624HP:0001802Absent toenail1SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0010624HP:0001802Absent toenail1SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0010624HP:0001800Hypoplastic toenails1SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0010624HP:0001800Hypoplastic toenails1SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0010624HP:0001802Absent toenail1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129111727602322
HP:0010624HP:0001802Absent toenail1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA122711727602322
HP:0010624HP:0001800Hypoplastic toenails1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129111727602322
HP:0010624HP:0001800Hypoplastic toenails1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA122711727602322
HP:0010624HP:0001802Absent toenail1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1188711730187270
HP:0010624HP:0001802Absent toenail1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160611730187270
HP:0010624HP:0001800Hypoplastic toenails1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1188711730187270
HP:0010624HP:0001800Hypoplastic toenails1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160611730187270
HP:0010624HP:0001802Absent toenail1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA128811824604319
HP:0010624HP:0001802Absent toenail1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA123011824604319
HP:0010624HP:0001800Hypoplastic toenails1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA128811824604319
HP:0010624HP:0001800Hypoplastic toenails1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA123011824604319
HP:0010624HP:0001802Absent toenail1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118125792613276
HP:0010624HP:0001802Absent toenail1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111825792613276
HP:0010624HP:0001800Hypoplastic toenails1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118125792613276
HP:0010624HP:0001800Hypoplastic toenails1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111825792613276
HP:0010624HP:0001802Absent toenail1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129725522612661
HP:0010624HP:0001802Absent toenail1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118525522612661
HP:0010624HP:0001800Hypoplastic toenails1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129725522612661
HP:0010624HP:0001800Hypoplastic toenails1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118525522612661
HP:0010624HP:0012555Absent nail of hallux2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0010624HP:0011937Hypoplastic fifth toenail2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0010624HP:0012555Absent nail of hallux2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0010624HP:0011937Hypoplastic fifth toenail2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0010624HP:0200105Absent fifth toenail2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0010624HP:0200105Absent fifth toenail2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0010624HP:0012555Absent nail of hallux2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA191826169613129
HP:0010624HP:0011937Hypoplastic fifth toenail2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA191826169613129
HP:0010624HP:0012555Absent nail of hallux2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA172926169613129
HP:0010624HP:0011937Hypoplastic fifth toenail2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA172926169613129
HP:0010624HP:0200105Absent fifth toenail2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA191826169613129
HP:0010624HP:0200105Absent fifth toenail2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA172926169613129
HP:0010624HP:0012555Absent nail of hallux2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14262890300126
HP:0010624HP:0011937Hypoplastic fifth toenail2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14262890300126
HP:0010624HP:0012555Absent nail of hallux2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13962890300126
HP:0010624HP:0011937Hypoplastic fifth toenail2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13962890300126
HP:0010624HP:0200105Absent fifth toenail2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14262890300126
HP:0010624HP:0200105Absent fifth toenail2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13962890300126
HP:0010624HP:0012555Absent nail of hallux2GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11494220601146
HP:0010624HP:0011937Hypoplastic fifth toenail2GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11494220601146
HP:0010624HP:0012555Absent nail of hallux2GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11244220601146
HP:0010624HP:0011937Hypoplastic fifth toenail2GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11244220601146
HP:0010624HP:0200105Absent fifth toenail2GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11494220601146
HP:0010624HP:0200105Absent fifth toenail2GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11244220601146
HP:0010624HP:0011937Hypoplastic fifth toenail2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA113614377606470
HP:0010624HP:0012555Absent nail of hallux2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA113614377606470
HP:0010624HP:0011937Hypoplastic fifth toenail2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111314377606470
HP:0010624HP:0012555Absent nail of hallux2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111314377606470
HP:0010624HP:0200105Absent fifth toenail2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA113614377606470
HP:0010624HP:0200105Absent fifth toenail2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111314377606470
HP:0010624HP:0012555Absent nail of hallux2NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1827866602991
HP:0010624HP:0011937Hypoplastic fifth toenail2NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1827866602991
HP:0010624HP:0012555Absent nail of hallux2NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1637866602991
HP:0010624HP:0011937Hypoplastic fifth toenail2NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1637866602991
HP:0010624HP:0200105Absent fifth toenail2NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1827866602991
HP:0010624HP:0200105Absent fifth toenail2NOG CL E G H9241186500Symphalangism-brachydactyly syndrome186500C0342282OMIM1637866602991
HP:0010624HP:0012555Absent nail of hallux2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18814378606471
HP:0010624HP:0011937Hypoplastic fifth toenail2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18814378606471
HP:0010624HP:0012555Absent nail of hallux2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18014378606471
HP:0010624HP:0011937Hypoplastic fifth toenail2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18014378606471
HP:0010624HP:0200105Absent fifth toenail2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18814378606471
HP:0010624HP:0200105Absent fifth toenail2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA18014378606471
HP:0010624HP:0012555Absent nail of hallux2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13568609604212
HP:0010624HP:0011937Hypoplastic fifth toenail2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13568609604212
HP:0010624HP:0012555Absent nail of hallux2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA12668609604212
HP:0010624HP:0011937Hypoplastic fifth toenail2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA12668609604212
HP:0010624HP:0200105Absent fifth toenail2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13568609604212
HP:0010624HP:0200105Absent fifth toenail2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA12668609604212
HP:0010624HP:0011937Hypoplastic fifth toenail2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160515888608833
HP:0010624HP:0012555Absent nail of hallux2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160515888608833
HP:0010624HP:0012555Absent nail of hallux2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1133915888608833
HP:0010624HP:0011937Hypoplastic fifth toenail2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1133915888608833
HP:0010624HP:0200105Absent fifth toenail2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160515888608833
HP:0010624HP:0200105Absent fifth toenail2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1133915888608833
HP:0010624HP:0012555Absent nail of hallux2SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0010624HP:0011937Hypoplastic fifth toenail2SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0010624HP:0012555Absent nail of hallux2SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0010624HP:0011937Hypoplastic fifth toenail2SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0010624HP:0200105Absent fifth toenail2SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0010624HP:0200105Absent fifth toenail2SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0010624HP:0012555Absent nail of hallux2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129111727602322
HP:0010624HP:0011937Hypoplastic fifth toenail2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129111727602322
HP:0010624HP:0012555Absent nail of hallux2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA122711727602322
HP:0010624HP:0011937Hypoplastic fifth toenail2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA122711727602322
HP:0010624HP:0200105Absent fifth toenail2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129111727602322
HP:0010624HP:0200105Absent fifth toenail2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA122711727602322
HP:0010624HP:0012555Absent nail of hallux2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1188711730187270
HP:0010624HP:0011937Hypoplastic fifth toenail2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1188711730187270
HP:0010624HP:0012555Absent nail of hallux2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160611730187270
HP:0010624HP:0011937Hypoplastic fifth toenail2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160611730187270
HP:0010624HP:0200105Absent fifth toenail2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1188711730187270
HP:0010624HP:0200105Absent fifth toenail2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA1160611730187270
HP:0010624HP:0012555Absent nail of hallux2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA128811824604319
HP:0010624HP:0011937Hypoplastic fifth toenail2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA128811824604319
HP:0010624HP:0012555Absent nail of hallux2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA123011824604319
HP:0010624HP:0011937Hypoplastic fifth toenail2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA123011824604319
HP:0010624HP:0200105Absent fifth toenail2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA128811824604319
HP:0010624HP:0200105Absent fifth toenail2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA123011824604319
HP:0010624HP:0012555Absent nail of hallux2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118125792613276
HP:0010624HP:0011937Hypoplastic fifth toenail2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118125792613276
HP:0010624HP:0012555Absent nail of hallux2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111825792613276
HP:0010624HP:0011937Hypoplastic fifth toenail2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111825792613276
HP:0010624HP:0200105Absent fifth toenail2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118125792613276
HP:0010624HP:0200105Absent fifth toenail2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA111825792613276
HP:0010624HP:0012555Absent nail of hallux2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129725522612661
HP:0010624HP:0011937Hypoplastic fifth toenail2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129725522612661
HP:0010624HP:0011937Hypoplastic fifth toenail2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118525522612661
HP:0010624HP:0012555Absent nail of hallux2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118525522612661
HP:0010624HP:0200105Absent fifth toenail2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA129725522612661
HP:0010624HP:0200105Absent fifth toenail2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA118525522612661
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010624HP:0010624Aplastic/hypoplastic toenail0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA021029216610911
HP:0010624HP:0010624Aplastic/hypoplastic toenail0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA017429216610911
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA01092910605185
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA0752910605185
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA047219189614194
HP:0010624HP:0010624Aplastic/hypoplastic toenail0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA036119189614194
HP:0010624HP:0010624Aplastic/hypoplastic toenail0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA013728526614789
HP:0010624HP:0010624Aplastic/hypoplastic toenail0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA012228526614789
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA021587881190198
HP:0010624HP:0010624Aplastic/hypoplastic toenail0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA019337881190198
HP:0010624HP:0010624Aplastic/hypoplastic toenail0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01175724147183
HP:0010624HP:0010624Aplastic/hypoplastic toenail0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01075724147183
HP:0010624HP:0001802Absent toenail1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA021029216610911
HP:0010624HP:0001802Absent toenail1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA017429216610911
HP:0010624HP:0001800Hypoplastic toenails1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA021029216610911
HP:0010624HP:0001800Hypoplastic toenails1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA017429216610911
HP:0010624HP:0001802Absent toenail1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA01092910605185
HP:0010624HP:0001802Absent toenail1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA0752910605185
HP:0010624HP:0001800Hypoplastic toenails1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA01092910605185
HP:0010624HP:0001800Hypoplastic toenails1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA0752910605185
HP:0010624HP:0001802Absent toenail1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA047219189614194
HP:0010624HP:0001802Absent toenail1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA036119189614194
HP:0010624HP:0001800Hypoplastic toenails1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA047219189614194
HP:0010624HP:0001800Hypoplastic toenails1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA036119189614194
HP:0010624HP:0001802Absent toenail1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA013728526614789
HP:0010624HP:0001802Absent toenail1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA012228526614789
HP:0010624HP:0001800Hypoplastic toenails1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA013728526614789
HP:0010624HP:0001800Hypoplastic toenails1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA012228526614789
HP:0010624HP:0001802Absent toenail1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA021587881190198
HP:0010624HP:0001802Absent toenail1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA019337881190198
HP:0010624HP:0001800Hypoplastic toenails1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA021587881190198
HP:0010624HP:0001800Hypoplastic toenails1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA019337881190198
HP:0010624HP:0001802Absent toenail1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01175724147183
HP:0010624HP:0001802Absent toenail1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01075724147183
HP:0010624HP:0001800Hypoplastic toenails1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01175724147183
HP:0010624HP:0001800Hypoplastic toenails1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01075724147183
HP:0010624HP:0012555Absent nail of hallux2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA021029216610911
HP:0010624HP:0011937Hypoplastic fifth toenail2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA021029216610911
HP:0010624HP:0012555Absent nail of hallux2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA017429216610911
HP:0010624HP:0011937Hypoplastic fifth toenail2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA017429216610911
HP:0010624HP:0200105Absent fifth toenail2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA021029216610911
HP:0010624HP:0200105Absent fifth toenail2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA017429216610911
HP:0010624HP:0012555Absent nail of hallux2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA01092910605185
HP:0010624HP:0011937Hypoplastic fifth toenail2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA01092910605185
HP:0010624HP:0012555Absent nail of hallux2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA0752910605185
HP:0010624HP:0011937Hypoplastic fifth toenail2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA0752910605185
HP:0010624HP:0200105Absent fifth toenail2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA01092910605185
HP:0010624HP:0200105Absent fifth toenail2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA0752910605185
HP:0010624HP:0011937Hypoplastic fifth toenail2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA047219189614194
HP:0010624HP:0012555Absent nail of hallux2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA047219189614194
HP:0010624HP:0011937Hypoplastic fifth toenail2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA036119189614194
HP:0010624HP:0012555Absent nail of hallux2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA036119189614194
HP:0010624HP:0200105Absent fifth toenail2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA047219189614194
HP:0010624HP:0200105Absent fifth toenail2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA036119189614194
HP:0010624HP:0012555Absent nail of hallux2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA013728526614789
HP:0010624HP:0011937Hypoplastic fifth toenail2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA013728526614789
HP:0010624HP:0012555Absent nail of hallux2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA012228526614789
HP:0010624HP:0011937Hypoplastic fifth toenail2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA012228526614789
HP:0010624HP:0200105Absent fifth toenail2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA013728526614789
HP:0010624HP:0200105Absent fifth toenail2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA012228526614789
HP:0010624HP:0012555Absent nail of hallux2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA021587881190198
HP:0010624HP:0011937Hypoplastic fifth toenail2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA021587881190198
HP:0010624HP:0012555Absent nail of hallux2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA019337881190198
HP:0010624HP:0011937Hypoplastic fifth toenail2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA019337881190198
HP:0010624HP:0200105Absent fifth toenail2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA021587881190198
HP:0010624HP:0200105Absent fifth toenail2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA019337881190198
HP:0010624HP:0011937Hypoplastic fifth toenail2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01175724147183
HP:0010624HP:0012555Absent nail of hallux2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01175724147183
HP:0010624HP:0011937Hypoplastic fifth toenail2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01075724147183
HP:0010624HP:0012555Absent nail of hallux2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01075724147183
HP:0010624HP:0200105Absent fifth toenail2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01175724147183
HP:0010624HP:0200105Absent fifth toenail2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01075724147183


Genes (80) :APC ARHGAP31 ARID1A ARID1B ARID2 ATP6V1B2 BAZ1B BCR CKAP2L CLIP2 COL11A1 COL7A1 CPT2 CRKL CTC1 DKC1 DLL4 DOCK6 DPF2 DPH1 DYNC2LI1 EED ELN EOGT EVC EVC2 EZH2 FGFR1 GDF5 GJB2 GJB6 GLI1 GTF2I GTF2IRD1 HOXA13 HRAS INPPL1 KCNH1 KDM1A LBR LIG4 LIMK1 LMX1B LRP4 MAPK1 MMP1 MSX1 NECTIN4 NHP2 NOG NOP10 NOTCH1 NSD1 NSUN2 PARN PORCN PPP1CB RBPJ RFC2 RIPK4 RTEL1 SHANK3 SHOC2 SHOX SLC35D1 SMARCA4 SMARCB1 SMARCE1 SOX11 SUZ12 TBL2 TBX3 TBX4 TCTN3 TERC TERT TINF2 USB1 WNT7A WRAP53

Diseases (46) :974 3255 1775 228900 186500 240 3258 79499 904 261330 228520 158676 79408 608836 616589 616901 289 3447 615297 952 166250 477 3071 3144 616728 215140 235 2614 2228 613573 305600 2701 1234 48652 606232 616938 3138 238578 2753 228930 1465 614607 618027 2438 611816 615866
 

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