| Human Phenotype
Ontology
|
Grandparent Node:
 Positional foot deformity (HP:0005656) | Parent Node:
Talipes (HP:0001883) | ..Starting node
..Talipes equinovalgus (HP:0001772)
|
| Term ID: |
1772 |
| Name: |
Talipes equinovalgus |
| Synonym: |
Equinovalgus deformity |
| Definition: |
A deformity of foot and ankle in which the foot is bent down and outwards. |
| Comments: |
|
| Reference: |
HP:0001772 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | ..Talipes calcaneovalgus (HP:0001884)
| ..Talipes calcaneovarus (HP:0008124)
| ..Talipes equinovarus (HP:0001762)
| | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | ABHD16A CL E G H | 7920 | 13921 | OMIM:619735 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86 | | | | | | | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | | | | 5 | | | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | HP:0040283 - Occasional | | | 29 | | | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040283 - Occasional | | | 6 | | | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | HP:0040283 - Occasional | | | 52 | | | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:228900 | Fibular hypoplasia and complex brachydactyly | HP:0040282 - Frequent | | | 52 | | | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040283 - Occasional | | | 6 | | | | HP:0001772 | HP:0001772 | Talipes equinovalgus | 0 | TNNT3 CL E G H | 7140 | 11950 | OMIM:618435 | Arthrogryposis, distal, type 2B2 | . | | | 43 | | |
Genes (13) :ABHD16A ATAD3A B3GAT3 B4GALT7 CHST3 CLTCL1 ESCO2 FLNB GDF5 LMX1B OTUD5 PTRH2 TNNT3
Diseases (13) :OMIM:619735 OMIM:617183 OMIM:245600 OMIM:130070 ORPHA:453510 OMIM:268300 OMIM:150250 OMIM:113100 OMIM:228900 ORPHA:2614 OMIM:301056 ORPHA:456312 OMIM:618435 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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