Human Phenotype Ontology 
Grandparent Node:
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Abnormal foot morphology (HP:0001760)help
Grandparent Node:
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Abnormal lower limb bone morphology (HP:0040069)help
Parent Node:
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Abnormality of the tarsal bones (HP:0001850)help
..Starting node
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Abnormality of the calcaneus (HP:0008364)help
Term ID: 8364
Name: Abnormality of the calcaneus
Synonym: Abnormal heel bone
Definition: An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.
Comments:
Reference: HP:0008364
Genes and Diseases:
 
       Child Nodes:
........expandCalcaneovalgus deformity (HP:0001848) help
........expandBipartite calcaneus (HP:0008127) help
........expandEquinus calcaneus (HP:0008138) help
........expandDelayed calcaneal ossification (HP:0008142) help
........expandProminent calcaneus (HP:0012428) help
........expandHypoplasia of the calcaneus (HP:0012789) help

 Sister Nodes: 
..expandAbnormal talus morphology (HP:0008365) help
..expandAbnormal tarsal bone mineral density (HP:0009132) help
..expandAbnormal tarsal ossification (HP:0008369) help
..expandAbnormality of the os naviculare pedis (HP:0100339) help
..expandAplasia/Hypoplasia of the tarsal bones (HP:0008363) help
..expandDeformed tarsal bones (HP:0008119) help
..expandFlattening of the talar dome (HP:0008144) help
..expandIrregular tarsal bones (HP:0004688) help
..expandLarge tarsal bones (HP:0004679) help
..expandOsteolysis involving tarsal bones (HP:0006234) help
..expandTarsal synostosis (HP:0008368) 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:0008364HP:0008364Abnormality of the calcaneus0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0008364HP:0008364Abnormality of the calcaneus0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0008364HP:0008364Abnormality of the calcaneus0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0008364HP:0008364Abnormality of the calcaneus0CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0008364HP:0008364Abnormality of the calcaneus0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0008364HP:0008364Abnormality of the calcaneus0COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form243
HP:0008364HP:0008364Abnormality of the calcaneus0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0008364HP:0008364Abnormality of the calcaneus0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0008364HP:0008364Abnormality of the calcaneus0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0008364HP:0008364Abnormality of the calcaneus0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D37
HP:0008364HP:0008364Abnormality of the calcaneus0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0008364HP:0008364Abnormality of the calcaneus0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0008364HP:0008364Abnormality of the calcaneus0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I493
HP:0008364HP:0008364Abnormality of the calcaneus0FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0008364HP:0008364Abnormality of the calcaneus0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0008364HP:0008364Abnormality of the calcaneus0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0008364HP:0008364Abnormality of the calcaneus0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0008364HP:0008364Abnormality of the calcaneus0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0008364HP:0008364Abnormality of the calcaneus0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0008364HP:0008364Abnormality of the calcaneus0HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia2
HP:0008364HP:0008364Abnormality of the calcaneus0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040282 - Frequent2
HP:0008364HP:0008364Abnormality of the calcaneus0HOXD10 CL E G H32365133OMIM:192950Vertical talus, congenital33
HP:0008364HP:0008364Abnormality of the calcaneus0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0008364HP:0008364Abnormality of the calcaneus0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0008364HP:0008364Abnormality of the calcaneus0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0008364HP:0008364Abnormality of the calcaneus0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0008364HP:0008364Abnormality of the calcaneus0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0008364HP:0008364Abnormality of the calcaneus0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0008364HP:0008364Abnormality of the calcaneus0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome37
HP:0008364HP:0008364Abnormality of the calcaneus0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0008364HP:0008364Abnormality of the calcaneus0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0008364HP:0008364Abnormality of the calcaneus0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0008364HP:0008364Abnormality of the calcaneus0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0008364HP:0008364Abnormality of the calcaneus0TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B37
HP:0008364HP:0008364Abnormality of the calcaneus0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A54
HP:0008364HP:0008364Abnormality of the calcaneus0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0008364HP:0008364Abnormality of the calcaneus0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0008364HP:0041061Fractured calcaneus1 CL E G H
HP:0008364HP:0001848Calcaneovalgus deformity1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0008364HP:0008138Equinus calcaneus1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0008364HP:0001848Calcaneovalgus deformity1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0008364HP:0012428Prominent calcaneus1CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0008364HP:0001848Calcaneovalgus deformity1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040283 - Occasional243
HP:0008364HP:0001848Calcaneovalgus deformity1COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.243
HP:0008364HP:0008142Delayed calcaneal ossification1COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita.284
HP:0008364HP:0012428Prominent calcaneus1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0008364HP:0012428Prominent calcaneus1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0008364HP:0001848Calcaneovalgus deformity1ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5DHP:0040283 - Occasional37
HP:0008364HP:0001848Calcaneovalgus deformity1EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0008364HP:0008138Equinus calcaneus1FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0008364HP:0008127Bipartite calcaneus1FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0008364HP:0008127Bipartite calcaneus1FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0008364HP:0012428Prominent calcaneus1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0008364HP:0008138Equinus calcaneus1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0008364HP:0008138Equinus calcaneus1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0008364HP:0008138Equinus calcaneus1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional99
HP:0008364HP:0008138Equinus calcaneus1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional60
HP:0008364HP:0012789Hypoplasia of the calcaneus1HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.2
HP:0008364HP:0008138Equinus calcaneus1HOXD10 CL E G H32365133OMIM:192950Vertical talus, congenital.33
HP:0008364HP:0001848Calcaneovalgus deformity1HOXD10 CL E G H32365133OMIM:192950Vertical talus, congenital.33
HP:0008364HP:0001848Calcaneovalgus deformity1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0008364HP:0001848Calcaneovalgus deformity1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0008364HP:0012789Hypoplasia of the calcaneus1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0008364HP:0012428Prominent calcaneus1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0008364HP:0001848Calcaneovalgus deformity1NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0008364HP:0012428Prominent calcaneus1OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0008364HP:0001848Calcaneovalgus deformity1PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0008364HP:0012428Prominent calcaneus1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0008364HP:0012428Prominent calcaneus1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0008364HP:0012428Prominent calcaneus1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0008364HP:0008138Equinus calcaneus1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0008364HP:0001848Calcaneovalgus deformity1TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B.37
HP:0008364HP:0001848Calcaneovalgus deformity1TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0008364HP:0001848Calcaneovalgus deformity1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0008364HP:0001848Calcaneovalgus deformity1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362


Genes (33) :ADAMTSL1 AEBP1 ATP6AP2 CCDC8 COL1A2 COL2A1 DLK1 DYM ECEL1 EZH2 FBN1 FLNA FLNB GFM2 GJB2 GJB6 HADHA HADHB HDAC6 HOXD10 KANSL1 LBR MEG3 NALCN OBSL1 PHGDH RSPRY1 RTL1 SATB2 SYT1 TNNI2 TPM2 ZEB2

Diseases (33) :ORPHA:521445 ORPHA:536532 ORPHA:93952 OMIM:614205 ORPHA:230851 OMIM:225320 OMIM:183900 ORPHA:96334 OMIM:223800 OMIM:615065 OMIM:277590 OMIM:154700 OMIM:311300 OMIM:150250 ORPHA:565624 ORPHA:477 ORPHA:746 OMIM:300863 ORPHA:163966 OMIM:192950 ORPHA:363958 ORPHA:363965 OMIM:215140 OMIM:616266 OMIM:612921 OMIM:256520 ORPHA:457395 ORPHA:251028 ORPHA:522077 OMIM:601680 OMIM:108120 ORPHA:261552 ORPHA:261537
 

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