| Human Phenotype
Ontology
|
Grandparent Node:
 Abnormal conjugate eye movement (HP:0000549) | Parent Node:
Strabismus (HP:0000486) | ..Starting node
..Esodeviation (HP:0020045)
|
| Term ID: |
20045 |
| Name: |
Esodeviation |
| Synonym: |
Convergent strabismus |
| Definition: |
A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. |
| Comments: |
|
| Reference: |
HP:0020045 |
| Genes and Diseases: | |
Child Nodes: | ........Esotropia (HP:0000565)
................... HP:0001137 Alternating esotropia
................... HP:0020046 Accommodative esotropia
................... HP:0031723 Secondary esotropia
................... HP:0031760 Non-accomodative esotropia
................... HP:0031767 Consecutive esotropia | ........Esophoria (HP:0025312)
|
Sister Nodes: | ..Concomitant strabismus (HP:0025069)
| ..Cyclodeviation (HP:0025589)
| ..Exodeviation (HP:0020049)
| ..Hyperdeviation (HP:0025587)
| ..Hypodeviation (HP:0025588)
| ..Incomitant strabismus (HP:0025068)
| ..Microtropia (HP:0031724)
| ..Monocular strabismus (HP:0010877)
| ..Neurogenic strabismus (HP:0031775)
| ..obsolete Congenital strabismus (HP:0000487)
| | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0020045 | HP:0020045 | Esodeviation | 0 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0020045 | Esodeviation | 0 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0000565 | Esotropia | 1 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0025312 | Esophoria | 1 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0025312 | Esophoria | 1 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0000565 | Esotropia | 1 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0031767 | Consecutive esotropia | 2 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0020046 | Accommodative esotropia | 2 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0031723 | Secondary esotropia | 2 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0001137 | Alternating esotropia | 2 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0031760 | Non-accomodative esotropia | 2 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0020046 | Accommodative esotropia | 2 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0031723 | Secondary esotropia | 2 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0001137 | Alternating esotropia | 2 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0031760 | Non-accomodative esotropia | 2 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0031767 | Consecutive esotropia | 2 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0031762 | Distance esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0031766 | Convergence excess esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0031722 | Near esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0031765 | Partially accomodative esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0031759 | Basic constant esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0031761 | Infantile constant esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0031764 | Fully accomodative esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0031763 | Cyclic esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0031761 | Infantile constant esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0031764 | Fully accomodative esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0031763 | Cyclic esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 31 | 8590 | 602590 | | HP:0020045 | HP:0031762 | Distance esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0031766 | Convergence excess esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0031722 | Near esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0031765 | Partially accomodative esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 | | HP:0020045 | HP:0031759 | Basic constant esotropia | 3 | PAK1 CL E G H | 5058 | 618158 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | 618158 | | OMIM | 0 | | 34 | 8590 | 602590 |
Genes (94) :ADAT3 ADGRG1 AGRN AHCY AHDC1 ALG9 AMMECR1 ARHGAP31 ATAD3A ATOH7 B3GAT3 BLOC1S3 CACNA1A CHAT CHMP1A CHST3 CLP1 COG8 COL11A1 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 CPLANE1 CRB1 DDOST DPP6 EMC1 FBN1 GBA GLRB GRID2 GRM1 GTF2E2 HERC2 HMGB3 HOXB1 IPW IRF2BPL KCNMA1 KIAA0753 KIDINS220 KIF21A KIF7 LAGE3 LGI4 MAGEL2 MBD5 MKRN3 MKRN3-AS1 MYO9A NDN NEXMIF NPAP1 OFD1 PAK1 PDE6D PEX5 PHGDH PIGN PIGT PMM2 PWAR1 PWRN1 RNASEH1 RORA RRM2B SALL2 SCN8A SEC23A SLC18A3 SLC25A1 SLC38A8 SLC5A7 SNAP25 SNORD115-1 SNORD116-1 SNRPN SOBP SON SOST SYT2 TBC1D23 TBX1 TCTN3 TENM3 TMEM216 TRIT1 TUBB3 UNC80 VAMP1 ZEB2 ZSWIM6
Diseases (70) :618158 615286 606854 98914 88618 615829 608776 300990 100300 496790 617183 221900 245600 614077 617106 614961 615803 154780 75840 2754 277170 172870 300536 616875 154700 230900 614619 616204 324262 614831 616943 176270 300915 614744 618088 79137 521390 617296 135700 301006 617468 615547 156200 85277 300912 202370 79351 280633 615398 212065 329336 618060 216820 614306 607812 613671 500150 269500 617695 188400 615145 608091 617873 300570 616801 235730 617865 611182 2514 609218 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.
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