Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the lower limb (HP:0002814)help
Parent Node:
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Abnormal lower limb bone morphology (HP:0040069)help
Parent Node:
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Abnormality of the foot (HP:0001760)help
..Starting node
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Abnormality of the tarsal bones (HP:0001850)help
Term ID: 1850
Name: Abnormality of the tarsal bones
Synonym: Abnormal ankle bones; Abnormal tarsals
Definition: An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.
Comments:
Reference: HP:0001850
Genes and Diseases:
 
       Child Nodes:
........expandLarge tarsal bones (HP:0004679) help
........expandIrregular tarsal bones (HP:0004688) help
........expandOsteolysis involving tarsal bones (HP:0006234) help
........expandDeformed tarsal bones (HP:0008119) help
................... HP:0001848 Calcaneovalgus deformity
........expandFlattening of the talar dome (HP:0008144) help
........expandAplasia/Hypoplasia of the tarsal bones (HP:0008363) help
................... HP:0010509 Aplasia of the tarsal bones
................... HP:0012789 Hypoplasia of the calcaneus
........expandAbnormality of the calcaneus (HP:0008364) help
................... HP:0001848 Calcaneovalgus deformity
................... HP:0008127 Bipartite calcaneus
................... HP:0008138 Equinus calcaneus
................... HP:0008142 Delayed calcaneal ossification
................... HP:0012428 Prominent calcaneus
................... HP:0012789 Hypoplasia of the calcaneus
........expandAbnormality of the talus (HP:0008365) help
................... HP:0001775 Tarsal osteovalgus
................... HP:0001838 Rocker bottom foot
................... HP:0008095 Osteolysis of talus
................... HP:0008117 Shortening of the talar neck
................... HP:0011836 Delayed talus ossification
........expandTarsal synostosis (HP:0008368) help
................... HP:0005682 Talocalcaneal synostosis
................... HP:0005802 Coalescence of tarsal bones
................... HP:0008097 Partial fusion of tarsals
................... HP:0008122 Calcaneonavicular fusion
................... HP:0100329 Tarsometatarsal synostosis
........expandAbnormal tarsal ossification (HP:0008369) help
................... HP:0008103 Delayed tarsal ossification
................... HP:0008108 Advanced tarsal ossification
................... HP:0008131 Tarsal stippling
................... HP:0008134 Irregular tarsal ossification
................... HP:0011836 Delayed talus ossification
........expandAbnormal tarsal bone mineral density (HP:0009132) help
................... HP:0008076 Osteoporotic tarsals
................... HP:0031051 Tarsal sclerosis
........expandAbnormality of the os naviculare pedis (HP:0100339) help
................... HP:0010888 Morbus Koehler

 Sister Nodes: 
..expandAbnormal foot bone ossification (HP:0010675) help
..expandAbnormal metatarsal morphology (HP:0001832) help
..expandAbnormality of dorsoventral patterning of the limbs (HP:0100270) help
..expandAbnormality of the Achilles tendon (HP:0005109) help
..expandAbnormality of the plantar skin of foot (HP:0100872) help
..expandAbnormality of toe (HP:0001780) help
..expandAnkylosis of feet small joints (HP:0008090) help
..expandAplasia/Hypoplasia involving bones of the feet (HP:0006494) help
..expandAutoamputation of foot (HP:0001868) help
..expandBroad foot (HP:0001769) help
..expandContractures involving the joints of the feet (HP:0008366) help
..expandDuplication involving bones of the feet (HP:0009136) help
..expandEquinovarus deformity (HP:0008110) help
..expandFoot asymmetry (HP:0010507) help
..expandFoot osteomyelitis (HP:0001886) help
..expandLong foot (HP:0001833) help
..expandMedial deviation of the foot (HP:0008082) help
..expandMedial rotation of the medial malleolus (HP:0008132) help
..expandNarrow foot (HP:0001786) help
..expandOsteolysis involving bones of the feet (HP:0009134) help
..expandPes cavus (HP:0001761) help
..expandPes planus (HP:0001763) help
..expandPes valgus (HP:0008081) help
..expandPodagra (HP:0001854) help
..expandPositional foot deformity (HP:0005656) help
..expandSplit foot (HP:0001839) help
..expandStructural foot deformity (HP:0010219) help
..expandSynostosis involving bones of the feet (HP:0009140) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001850HP:0001850Abnormality of the tarsal bones0FLNA CL E G H231690650ORPHA027113503754300017
HP:0001850HP:0001850Abnormality of the tarsal bones1FLNA CL E G H231690650ORPHA027113503754300017
HP:0001850HP:0001850Abnormality of the tarsal bones2FLNA CL E G H231690650ORPHA027113503754300017
HP:0001850HP:0001850Abnormality of the tarsal bones3FLNA CL E G H231690650ORPHA027113503754300017


Genes (77) :ADAMTSL1 ARID1B ATP7A BMPR1B CANT1 CCDC8 CHRNG CHSY1 COL11A2 COL1A2 COL2A1 CUL7 DOK7 DYM EBP ECEL1 EIF2AK3 EMG1 ERCC1 ERCC2 ERCC5 ERCC6 EZH2 FBLN1 FGFR1 FGFR2 FGFR3 FIG4 FLNA FLNB GDF5 GDF6 GPX4 HADHA HADHB HDAC6 HOXA13 HOXD10 INPPL1 KIF14 LBR LMBR1 LMNA MAFB MAGEL2 MAP3K7 MATN3 MKKS MMP2 MUSK MYBPC1 MYH3 NALCN NOG OBSL1 OFD1 PEX1 PHEX PHGDH PLAA POR PSAT1 PTH1R PUF60 RAPSN SAMD9 SLC2A10 SLC35D1 SMOC1 TBX4 TNNI2 TNNT3 TPM2 VAC14 WNT7A WRN ZMPSTE24

Diseases (90) :90650 565 2639 609441 2098 605282 215150 608180 53271 90652 272460 968 3250 228900 610017 617898 250220 163966 215140 2378 166300 157800 2473 259600 1147 611377 1412 185800 186500 186570 2750 307800 201750 1106 276820 521445 251056 251450 2616 265000 225320 183900 208150 223800 302960 615065 226980 1270 211180 610758 610756 616570 214150 277590 123150 207410 3472 305620 311300 304120 150250 746 300863 140000 192950 3144 616258 200500 79474 275210 615547 607078 1146 614335 601680 193700 612921 214100 256520 521426 617527 616038 215045 508488 617053 3342 269250 147891 108120 902
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.