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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Abnormal foot bone ossification (HP:0010675)help
Parent Node:
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Abnormality of the tarsal bones (HP:0001850)help
..Starting node
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Abnormal tarsal ossification (HP:0008369)help
Term ID: 8369
Name: Abnormal tarsal ossification
Synonym: Abnormal maturation of ankle bones; Abnormal ossification of tarsal bones; Hardening of ankle bones
Definition: An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
Comments:
Reference: HP:0008369
Genes and Diseases:
 
       Child Nodes:
........expandDelayed tarsal ossification (HP:0008103) help
................... HP:0008142 Delayed calcaneal ossification
........expandAdvanced tarsal ossification (HP:0008108) help
........expandTarsal stippling (HP:0008131) help
........expandIrregular tarsal ossification (HP:0008134) help
........expandDelayed talus ossification (HP:0011836) help

 Sister Nodes: 
..expandAbnormal talus morphology (HP:0008365) help
..expandAbnormal tarsal bone mineral density (HP:0009132) help
..expandAbnormality of the calcaneus (HP:0008364) 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:0008369HP:0008369Abnormal tarsal ossification0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0008369HP:0008369Abnormal tarsal ossification0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0008369HP:0008369Abnormal tarsal ossification0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0008369HP:0008369Abnormal tarsal ossification0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus65
HP:0008369HP:0008369Abnormal tarsal ossification0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0008369HP:0008369Abnormal tarsal ossification0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasia18
HP:0008369HP:0008369Abnormal tarsal ossification0MATN3 CL E G H41486909OMIM:607078Epiphyseal dysplasia, multiple, 532
HP:0008369HP:0008369Abnormal tarsal ossification0PTH1R CL E G H57459608OMIM:215045Chondrodysplasia, Blomstrand type58
HP:0008369HP:0008369Abnormal tarsal ossification0PTH1R CL E G H57459608OMIM:600002Eiken syndrome58
HP:0008369HP:0008369Abnormal tarsal ossification0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0008369HP:0008369Abnormal tarsal ossification0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasia9
HP:0008369HP:0011836Delayed talus ossification1 CL E G H
HP:0008369HP:0008108Advanced tarsal ossification1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0008369HP:0008103Delayed tarsal ossification1COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0008369HP:0008131Tarsal stippling1EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0008369HP:0008134Irregular tarsal ossification1EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0008369HP:0008103Delayed tarsal ossification1HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0008369HP:0008108Advanced tarsal ossification1INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040283 - Occasional18
HP:0008369HP:0008103Delayed tarsal ossification1MATN3 CL E G H41486909OMIM:607078Epiphyseal dysplasia, multiple, 5.32
HP:0008369HP:0008108Advanced tarsal ossification1PTH1R CL E G H57459608OMIM:215045Chondrodysplasia, Blomstrand type.58
HP:0008369HP:0008103Delayed tarsal ossification1PTH1R CL E G H57459608OMIM:600002Eiken syndrome58
HP:0008369HP:0008108Advanced tarsal ossification1SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia.9
HP:0008369HP:0008108Advanced tarsal ossification1SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040283 - Occasional9
HP:0008369HP:0008142Delayed calcaneal ossification2COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita.284


Genes (9) :CANT1 COL2A1 EBP EIF2AK3 HOXA13 INPPL1 MATN3 PTH1R SLC35D1

Diseases (10) :OMIM:251450 OMIM:183900 OMIM:302960 OMIM:226980 OMIM:140000 ORPHA:3144 OMIM:607078 OMIM:215045 OMIM:600002 OMIM:269250
 

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