Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the lower limb (HP:0002814)help
Parent Node:
expandAbnormal foot morphology (HP:0001760)help
..Starting node
..expandEquinovarus deformity (HP:0008110)help
Term ID: 8110
Name: Equinovarus deformity
Synonym:
Definition:
Comments:
Reference: HP:0008110
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
..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:0008110HP:0008110Equinovarus deformity0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040284 - Very rare5
HP:0008110HP:0008110Equinovarus deformity0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional3
HP:0008110HP:0008110Equinovarus deformity0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0008110HP:0008110Equinovarus deformity0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0008110HP:0008110Equinovarus deformity0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0008110HP:0008110Equinovarus deformity0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional99
HP:0008110HP:0008110Equinovarus deformity0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional60
HP:0008110HP:0008110Equinovarus deformity0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040282 - Frequent165
HP:0008110HP:0008110Equinovarus deformity0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040283 - Occasional79
HP:0008110HP:0008110Equinovarus deformity0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0008110HP:0008110Equinovarus deformity0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0008110HP:0008110Equinovarus deformity0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040284 - Very rare271
HP:0008110HP:0008110Equinovarus deformity0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130


Genes (13) :ATP6V1B2 COL25A1 ERCC6 ERGIC1 FARS2 HADHA HADHB LMX1B PMP22 SCYL2 SLC26A2 TBC1D24 VPS13A

Diseases (9) :ORPHA:79500 ORPHA:1143 OMIM:278800 ORPHA:466722 ORPHA:746 ORPHA:2614 ORPHA:90658 ORPHA:56304 ORPHA:2388
 

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