| Human Phenotype
Ontology
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Grandparent Node:
 Abnormality of the outer ear (HP:0000356) | Parent Node:
Abnormal location of ears (HP:0000357) | ..Starting node
..Anteverted ears (HP:0040080)
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| Term ID: |
40080 |
| Name: |
Anteverted ears |
| Synonym: |
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| Definition: |
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| Comments: |
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| Reference: |
HP:0040080 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | ..Asymmetry of the ears (HP:0010722)
| ..Low-set ears (HP:0000369)
| ..Posteriorly rotated ears (HP:0000358)
| ..Superiorly displaced ears (HP:0008541)
| ..Synotia (HP:0100663)
| | 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:0040080 | HP:0040080 | Anteverted ears | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | . | | | 101 | | | | HP:0040080 | HP:0040080 | Anteverted ears | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:618087 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | . | | | 32 | | | | HP:0040080 | HP:0040080 | Anteverted ears | 0 | FGF3 CL E G H | 2248 | 3681 | OMIM:610706 | Deafness, congenital, with inner ear agenesis, microtia, and microdontia | . | | | 18 | | | | HP:0040080 | HP:0040080 | Anteverted ears | 0 | HMGB3 CL E G H | 3149 | 5004 | OMIM:300915 | Microphthalmia, syndromic 13 | . | | | 2 | | | | HP:0040080 | HP:0040080 | Anteverted ears | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | | | HP:0040080 | HP:0040080 | Anteverted ears | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | | | HP:0040080 | HP:0040080 | Anteverted ears | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | . | | | 3 | | | | HP:0040080 | HP:0040080 | Anteverted ears | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040282 - Frequent | | | 10 | | | | HP:0040080 | HP:0040080 | Anteverted ears | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | | | HP:0040080 | HP:0040080 | Anteverted ears | 0 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | . | | | 11 | | |
Genes (10) :BCOR CACNA1G FGF3 HMGB3 KANSL1 KAT6A PBX1 RPL10 SYNGAP1 TTI2
Diseases (10) :OMIM:300166 OMIM:618087 OMIM:610706 OMIM:300915 OMIM:610443 OMIM:616268 OMIM:617641 ORPHA:459070 ORPHA:544254 OMIM:615541 |
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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