Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the lower limb (HP:0002814)help
Parent Node:
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Abnormal foot morphology (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
..expandDuplication involving bones of the feet (HP:0009136) help
..expandEquinovarus deformity (HP:0008110) help
..expandFoot asymmetry (HP:0010507) help
..expandFoot joint contracture (HP:0008366) 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001769HP:0001769Broad foot0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0001769HP:0001769Broad foot0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0001769HP:0001769Broad foot0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0001769HP:0001769Broad foot0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0001769HP:0001769Broad foot0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0001769HP:0001769Broad foot0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type.90
HP:0001769HP:0001769Broad foot0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0001769HP:0001769Broad foot0CDC42BPB CL E G H95781738OMIM:619841
HP:0001769HP:0001769Broad foot0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0001769HP:0001769Broad foot0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13427
HP:0001769HP:0001769Broad foot0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040282 - Frequent4
HP:0001769HP:0001769Broad foot0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040282 - Frequent81
HP:0001769HP:0001769Broad foot0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040281 - Very frequent62
HP:0001769HP:0001769Broad foot0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0001769HP:0001769Broad foot0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0001769HP:0001769Broad foot0GDF6 CL E G H3922554221OMIM:617898Multiple synostoses syndrome 4.64
HP:0001769HP:0001769Broad foot0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0001769HP:0001769Broad foot0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 1.73
HP:0001769HP:0001769Broad foot0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0001769HP:0001769Broad foot0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1.
HP:0001769HP:0001769Broad foot0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0001769HP:0001769Broad foot0LMBR1 CL E G H6432713243OMIM:135750Laurin-Sandrow syndrome.106
HP:0001769HP:0001769Broad foot0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0001769HP:0001769Broad foot0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001769HP:0001769Broad foot0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040281 - Very frequent217
HP:0001769HP:0001769Broad foot0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040282 - Frequent544
HP:0001769HP:0001769Broad foot0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040281 - Very frequent113
HP:0001769HP:0001769Broad foot0PHF6 CL E G H8429518145ORPHA:127Borjeson-Forssman-Lehmann syndromeHP:0040281 - Very frequent29
HP:0001769HP:0001769Broad foot0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0001769HP:0001769Broad foot0PTH1R CL E G H57459608ORPHA:79106Eiken syndromeHP:0040282 - Frequent58
HP:0001769HP:0001769Broad foot0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0001769HP:0001769Broad foot0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0001769HP:0001769Broad foot0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040282 - Frequent1
HP:0001769HP:0001769Broad foot0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome.22
HP:0001769HP:0001769Broad foot0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0001769HP:0001769Broad foot0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 2HP:0040283 - Occasional14


Genes (33) :AIFM1 AIP ARL6 B3GLCT BBS1 BMPR1B CCDC28B CDC42BPB DYM DYNC1H1 EED EZH2 FGD1 FGFR1 GDF6 GPC3 GPC4 GPR101 LMBR1 MASP1 MSL3 NLRP3 NSD1 PDE4D PHF6 POGZ PTH1R RPL10 SLC26A2 SUZ12 TBL1XR1 TONSL XYLT1

Diseases (28) :OMIM:300232 ORPHA:963 OMIM:209900 OMIM:261540 OMIM:609441 OMIM:619841 OMIM:223800 OMIM:614563 ORPHA:3447 ORPHA:915 OMIM:305400 OMIM:166250 OMIM:617898 ORPHA:373 OMIM:312870 OMIM:135750 OMIM:257920 OMIM:301032 ORPHA:575 ORPHA:439822 ORPHA:127 OMIM:616364 ORPHA:79106 OMIM:300998 ORPHA:93307 OMIM:602342 ORPHA:93357 OMIM:615777
 

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