Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of connective tissue (HP:0003549)help
..Starting node
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Abnormal Sharpey fiber morphology (HP:0100685)help
Term ID: 100685
Name: Abnormal Sharpey fiber morphology
Synonym: Abnormal Sharpey fibre morphology; Abnormality of Sharpey fibers; Abnormality of Sharpey fibres; Enthesis abnormality
Definition: An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone.
Comments:
Reference: HP:0100685
Genes and Diseases:
 
       Child Nodes:
........expandChondrocalcinosis (HP:0000934) help
................... HP:0005017 Polyarticular chondrocalcinosis
........expandEnthesitis (HP:0100686) help

 Sister Nodes: 
..expandAbnormal adipose tissue morphology (HP:0009124) help
..expandAbnormal mast cell morphology (HP:0100494) help
..expandAbnormal odontoid tissue morphology (HP:3000050) help
..expandAbnormality of the fascia (HP:0100536) help
..expandCellulitis (HP:0100658) help
..expandCongenital mesoblastic nephroma (HP:0100881) help
..expandConnective tissue nevi (HP:0100898) help
..expandFlexion contracture (HP:0001371) help
..expandHernia (HP:0100790) help
..expandIncreased connective tissue (HP:0009025) help
..expandMusculotendinous retraction (HP:0031462) help
..expandScarring (HP:0100699) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0ALPL CL E G H249438OMIM:146300Hypophosphatasia, adult126
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0ANKH CL E G H5617215492OMIM:118600Chondrocalcinosis 2164
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0ANKH CL E G H5617215492ORPHA:1416Familial calcium pyrophosphate deposition164
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0AP2S1 CL E G H1175565OMIM:600740Hypocalciuric hypercalcemia, familial, type III6
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0ATP7A CL E G H538869ORPHA:565Menkes disease192
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0CDC73 CL E G H7957716783ORPHA:99879Familial isolated hyperparathyroidism169
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0DMP1 CL E G H17582932ORPHA:289176Autosomal recessive hypophosphatemic rickets48
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0ENPP1 CL E G H51673356ORPHA:289176Autosomal recessive hypophosphatemic rickets151
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0FXYD2 CL E G H4864026OMIM:154020Hypomagnesemia 2, renal17
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0GCM2 CL E G H92474198ORPHA:99879Familial isolated hyperparathyroidism51
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0GNA11 CL E G H27674379OMIM:145981Hypocalciuric hypercalcemia, familial, type II16
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0HLA-B CL E G H31064932ORPHA:29207Reactive arthritis4
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0HLA-B CL E G H31064932OMIM:106300Spondyloarthropathy, susceptibility to, 14
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis65
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 251
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0MEFV CL E G H42106998ORPHA:329967Intermittent hydrarthrosis281
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0MEN1 CL E G H42217010ORPHA:99879Familial isolated hyperparathyroidism462
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0NOTCH3 CL E G H48547883ORPHA:2591Infantile myofibromatosis144
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0PDGFRB CL E G H51598804ORPHA:2591Infantile myofibromatosis28
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemia217
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis3
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal75
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis2
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0TNFRSF11B CL E G H498211909ORPHA:1416Familial calcium pyrophosphate deposition44
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0TNFRSF1A CL E G H713211916ORPHA:329967Intermittent hydrarthrosis131
HP:0100685HP:0100685Abnormal Sharpey fiber morphology0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0100685HP:0000934Chondrocalcinosis1ALPL CL E G H249438OMIM:146300Hypophosphatasia, adult.126
HP:0100685HP:0000934Chondrocalcinosis1ANKH CL E G H5617215492OMIM:118600Chondrocalcinosis 2164
HP:0100685HP:0000934Chondrocalcinosis1ANKH CL E G H5617215492ORPHA:1416Familial calcium pyrophosphate depositionHP:0040283 - Occasional164
HP:0100685HP:0100686Enthesitis1ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0100685HP:0000934Chondrocalcinosis1AP2S1 CL E G H1175565OMIM:600740Hypocalciuric hypercalcemia, familial, type III.6
HP:0100685HP:0000934Chondrocalcinosis1ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040283 - Occasional192
HP:0100685HP:0000934Chondrocalcinosis1ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0100685HP:0100686Enthesitis1CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent8
HP:0100685HP:0000934Chondrocalcinosis1CDC73 CL E G H7957716783ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent169
HP:0100685HP:0000934Chondrocalcinosis1CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040283 - Occasional169
HP:0100685HP:0000934Chondrocalcinosis1CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040283 - Occasional169
HP:0100685HP:0000934Chondrocalcinosis1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0100685HP:0100686Enthesitis1DMP1 CL E G H17582932ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040282 - Frequent48
HP:0100685HP:0100686Enthesitis1ENPP1 CL E G H51673356ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040282 - Frequent151
HP:0100685HP:0000934Chondrocalcinosis1FXYD2 CL E G H4864026OMIM:154020Hypomagnesemia 2, renal.17
HP:0100685HP:0000934Chondrocalcinosis1GCM2 CL E G H92474198ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent51
HP:0100685HP:0000934Chondrocalcinosis1GNA11 CL E G H27674379OMIM:145981Hypocalciuric hypercalcemia, familial, type II.16
HP:0100685HP:0100686Enthesitis1HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040281 - Very frequent4
HP:0100685HP:0100686Enthesitis1HLA-B CL E G H31064932OMIM:106300Spondyloarthropathy, susceptibility to, 1.4
HP:0100685HP:0000934Chondrocalcinosis1HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0100685HP:0100686Enthesitis1IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent65
HP:0100685HP:0100686Enthesitis1IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0100685HP:0000934Chondrocalcinosis1KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0100685HP:0000934Chondrocalcinosis1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0100685HP:0000934Chondrocalcinosis1MEFV CL E G H42106998ORPHA:329967Intermittent hydrarthrosisHP:0040284 - Very rare281
HP:0100685HP:0000934Chondrocalcinosis1MEN1 CL E G H42217010ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent462
HP:0100685HP:0000934Chondrocalcinosis1NOTCH3 CL E G H48547883ORPHA:2591Infantile myofibromatosisHP:0040282 - Frequent144
HP:0100685HP:0000934Chondrocalcinosis1PDGFRB CL E G H51598804ORPHA:2591Infantile myofibromatosisHP:0040282 - Frequent28
HP:0100685HP:0100686Enthesitis1PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemiaHP:0040283 - Occasional217
HP:0100685HP:0100686Enthesitis1PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0100685HP:0100686Enthesitis1PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent3
HP:0100685HP:0000934Chondrocalcinosis1SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0100685HP:0000934Chondrocalcinosis1SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0100685HP:0000934Chondrocalcinosis1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0100685HP:0100686Enthesitis1STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent2
HP:0100685HP:0000934Chondrocalcinosis1TNFRSF11B CL E G H498211909ORPHA:1416Familial calcium pyrophosphate depositionHP:0040283 - Occasional44
HP:0100685HP:0000934Chondrocalcinosis1TNFRSF1A CL E G H713211916ORPHA:329967Intermittent hydrarthrosisHP:0040284 - Very rare131
HP:0100685HP:0000934Chondrocalcinosis1WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0100685HP:0005017Polyarticular chondrocalcinosis2ANKH CL E G H5617215492OMIM:118600Chondrocalcinosis 2.164


Genes (33) :ALPL ANKH ANKRD55 AP2S1 ATP7A ATP7B CD247 CDC73 CLCNKB DMP1 ENPP1 FXYD2 GCM2 GNA11 HLA-B HYAL1 IL2RA IL2RB KCNJ1 LMNA MEFV MEN1 NOTCH3 PDGFRB PHEX PTPN2 PTPN22 SLC12A1 SLC12A3 STAT4 TNFRSF11B TNFRSF1A WRN

Diseases (25) :OMIM:146300 OMIM:118600 ORPHA:1416 ORPHA:85408 OMIM:600740 ORPHA:565 OMIM:277900 ORPHA:99879 ORPHA:99880 ORPHA:143 ORPHA:358 ORPHA:289176 OMIM:154020 OMIM:145981 ORPHA:29207 OMIM:106300 OMIM:601492 OMIM:241200 ORPHA:79474 ORPHA:329967 ORPHA:2591 ORPHA:89936 OMIM:601678 OMIM:263800 ORPHA:902
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.