Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the lower limb (HP:0002814)help
Parent Node:
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Abnormality of the foot (HP:0001760)help
..Starting node
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Broad foot (HP:0001769)help
Term ID: 1769
Name: Broad foot
Synonym: Broad feet; Broad foot; Wide foot
Definition: A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.
Comments:
Reference: HP:0001769
Genes and Diseases:
 
       Child Nodes:

 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 the tarsal bones (HP:0001850) 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
..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:
HP:0001769HP:0001769Broad foot0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA143189325603100
HP:0001769HP:0001769Broad foot0AIP CL E G H9049963ORPHA1112273358605555
HP:0001769HP:0001769Broad foot0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0001769HP:0001769Broad foot0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0001769HP:0001769Broad foot0BMPR1B CL E G H658609441Acromesomelic dysplasia, Demirhan type609441C4225404OMIM1241951077603248
HP:0001769HP:0001769Broad foot0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA15026315832606158
HP:0001769HP:0001769Broad foot0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA113621527601047
HP:0001769HP:0001769Broad foot0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA115949688603198
HP:0001769HP:0001769Broad foot0DYM CL E G H54808223800Dyggve-Melchior-Clausen syndrome223800C0265286OMIM13712421317607461
HP:0001769HP:0001769Broad foot0EED CL E G H87263447ORPHA19493188605984
HP:0001769HP:0001769Broad foot0EZH2 CL E G H21463447ORPHA1422353527601573
HP:0001769HP:0001769Broad foot0FGD1 CL E G H2245915ORPHA1512763663300546
HP:0001769HP:0001769Broad foot0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0001769HP:0001769Broad foot0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0001769HP:0001769Broad foot0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA12283796164810
HP:0001769HP:0001769Broad foot0GDF6 CL E G H392255617898MULTIPLE SYNOSTOSES SYNDROME 4617898CN842246OMIM1211654221601147
HP:0001769HP:0001769Broad foot0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0001769HP:0001769Broad foot0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0001769HP:0001769Broad foot0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0001769HP:0001769Broad foot0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0001769HP:0001769Broad foot0GPR101 CL E G H83550963ORPHA11819414963300393
HP:0001769HP:0001769Broad foot0LMBR1 CL E G H64327135750Mirror image polydactyly135750C1851100OMIM11124013243605522
HP:0001769HP:0001769Broad foot0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1221226901600521
HP:0001769HP:0001769Broad foot0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114248816400606416
HP:0001769HP:0001769Broad foot0NSD1 CL E G H643243447ORPHA152589614234606681
HP:0001769HP:0001769Broad foot0PHF6 CL E G H84295127ORPHA12923518145300414
HP:0001769HP:0001769Broad foot0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA1231458923606879
HP:0001769HP:0001769Broad foot0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA154909236601487
HP:0001769HP:0001769Broad foot0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA11032319129610936
HP:0001769HP:0001769Broad foot0PTH1R CL E G H574579106ORPHA1451009608168468
HP:0001769HP:0001769Broad foot0SUZ12 CL E G H235123447ORPHA137217101606245
HP:0001769HP:0001769Broad foot0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM12516129529608628
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001769HP:0001769Broad foot0XYLT1 CL E G H64131615777Desbuquois dysplasia 2615777C4014294OMIM02316715516608124


Genes (30) :AGPAT2 AIP B3GLCT BBS1 BMPR1B BSCL2 CAV1 CAVIN1 DYM EED EZH2 FGD1 FGFR1 FOS GDF6 GPC3 GPC4 GPR101 LMBR1 MASP1 NLRP3 NSD1 PHF6 PHGDH PPARG PSAT1 PTH1R SUZ12 TBL1XR1 XYLT1

Diseases (21) :528 963 261540 209900 609441 223800 3447 915 305400 166250 617898 373 312870 135750 257920 575 127 2671 79106 602342 615777
 

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