Human Phenotype
Ontology
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Grandparent Node: Abnormal pinna morphology (HP:0000377) | Grandparent Node: Aplasia/Hypoplasia of the external ear (HP:0008772) | Parent Node: Microtia (HP:0008551) | ..Starting node ..Microtia, third degree (HP:0011267)
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Term ID: |
11267 |
Name: |
Microtia, third degree |
Synonym: |
Abnormal shape/structure of ear; Third-degree microtia |
Definition: |
Presence of some auricular structures, but none of these structures conform to recognized ear components. |
Comments: |
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Reference: |
HP:0011267 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | ..Microtia, first degree (HP:0011266)
| ..Microtia, second degree (HP:0008569)
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0011267 | HP:0011267 | Microtia, third degree | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 9 | | | HP:0011267 | HP:0011267 | Microtia, third degree | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 31 | | | HP:0011267 | HP:0011267 | Microtia, third degree | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 50 | | | HP:0011267 | HP:0011267 | Microtia, third degree | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | HP:0040283 - Occasional | | | 58 | | | HP:0011267 | HP:0011267 | Microtia, third degree | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 3 | | | HP:0011267 | HP:0011267 | Microtia, third degree | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 53 | | | HP:0011267 | HP:0011267 | Microtia, third degree | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 21 | | | HP:0011267 | HP:0011267 | Microtia, third degree | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 39 | | | HP:0011267 | HP:0011267 | Microtia, third degree | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | | HP:0011267 | HP:0011267 | Microtia, third degree | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | . | | | 7 | | |
Genes (10) :CDC45 CDC6 CDT1 FANCB GMNN ORC1 ORC4 ORC6 TCTN3 TWIST2
Diseases (4) :ORPHA:2554 ORPHA:3412 ORPHA:2753 OMIM:200110 |
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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