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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Pes valgus (HP:0008081)help
Term ID: 8081
Name: Pes valgus
Synonym: Valgus foot deformity
Definition: An outward deviation of the foot at the talocalcaneal or subtalar joint.
Comments:
Reference: HP:0008081
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
..expandBroad foot (HP:0001769) 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
..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:0008081HP:0008081Pes valgus0ANO1 CL E G H5510721625OMIM:620045
HP:0008081HP:0008081Pes valgus0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040283 - Occasional105
HP:0008081HP:0008081Pes valgus0CACNA1C CL E G H7751390OMIM:620029572
HP:0008081HP:0008081Pes valgus0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 76HP:0040283 - Occasional4
HP:0008081HP:0008081Pes valgus0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0008081HP:0008081Pes valgus0CDC42BPB CL E G H95781738OMIM:619841
HP:0008081HP:0008081Pes valgus0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0008081HP:0008081Pes valgus0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0008081HP:0008081Pes valgus0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0008081HP:0008081Pes valgus0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0008081HP:0008081Pes valgus0COL9A3 CL E G H12992219OMIM:620022137
HP:0008081HP:0008081Pes valgus0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0008081HP:0008081Pes valgus0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent493
HP:0008081HP:0008081Pes valgus0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040283 - Occasional134
HP:0008081HP:0008081Pes valgus0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040283 - Occasional139
HP:0008081HP:0008081Pes valgus0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040283 - Occasional
HP:0008081HP:0008081Pes valgus0GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type.52
HP:0008081HP:0008081Pes valgus0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0008081HP:0008081Pes valgus0H4C5 CL E G H83674790OMIM:619950
HP:0008081HP:0008081Pes valgus0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040283 - Occasional11
HP:0008081HP:0008081Pes valgus0HNRNPR CL E G H102365047OMIM:620073
HP:0008081HP:0008081Pes valgus0KDELR2 CL E G H110146305OMIM:619131OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0008081HP:0008081Pes valgus0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0008081HP:0008081Pes valgus0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent11
HP:0008081HP:0008081Pes valgus0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0008081HP:0008081Pes valgus0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0008081HP:0008081Pes valgus0MYMX CL E G H10192972652391OMIM:619941
HP:0008081HP:0008081Pes valgus0MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0008081HP:0008081Pes valgus0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040283 - Occasional225
HP:0008081HP:0008081Pes valgus0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040283 - Occasional7
HP:0008081HP:0008081Pes valgus0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0008081HP:0008081Pes valgus0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0008081HP:0008081Pes valgus0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040283 - Occasional150
HP:0008081HP:0008081Pes valgus0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040283 - Occasional87
HP:0008081HP:0008081Pes valgus0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0008081HP:0008081Pes valgus0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040283 - Occasional1053
HP:0008081HP:0008081Pes valgus0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040283 - Occasional126
HP:0008081HP:0008081Pes valgus0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040283 - Occasional427
HP:0008081HP:0008081Pes valgus0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040283 - Occasional318
HP:0008081HP:0008081Pes valgus0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0008081HP:0008081Pes valgus0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0008081HP:0008081Pes valgus0SMG9 CL E G H5600625763OMIM:6199952
HP:0008081HP:0008081Pes valgus0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0008081HP:0008081Pes valgus0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0008081HP:0008081Pes valgus0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0008081HP:0008081Pes valgus0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0008081HP:0008081Pes valgus0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0008081HP:0008081Pes valgus0TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0008081HP:0008081Pes valgus0TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0008081HP:0008081Pes valgus0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040283 - Occasional4
HP:0008081HP:0008081Pes valgus0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0008081HP:0008081Pes valgus0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0008081HP:0008081Pes valgus0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4.95
HP:0008081HP:0008081Pes valgus0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly.95


Genes (51) :ANO1 BSCL2 CACNA1C CAPN1 CDC42BPB COL12A1 COL6A1 COL6A2 COL6A3 COL9A3 FBN1 FLNA GABRA1 GABRG2 GARS1 GDF5 GNB2 H4C5 HK1 HNRNPR KDELR2 LONP1 MAP3K7 MAPK8IP3 MBD5 MYMX MYPN PCDH19 PIGG PPP1R15B PUF60 RAI1 REEP1 RFT1 SCN1A SCN1B SCN2A SCN9A SH3TC2 SLC16A2 SMG9 SPRED2 SYT1 TCF4 TOR1A TPM2 TPM3 TRIP4 TRMT10A WAC WDR19

Diseases (39) :OMIM:620045 ORPHA:139536 OMIM:620029 ORPHA:488594 OMIM:616907 OMIM:619841 ORPHA:75840 OMIM:620022 OMIM:616914 ORPHA:1826 ORPHA:33069 OMIM:200700 OMIM:619503 OMIM:619950 ORPHA:99953 OMIM:620073 OMIM:619131 OMIM:600373 OMIM:618443 OMIM:156200 OMIM:619941 ORPHA:171881 ORPHA:488635 ORPHA:391408 ORPHA:508488 ORPHA:477817 OMIM:612015 ORPHA:99949 ORPHA:59 OMIM:619995 OMIM:619745 ORPHA:522077 ORPHA:2896 OMIM:610954 OMIM:618947 ORPHA:486815 ORPHA:466950 OMIM:614378 OMIM:614376
 

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