Term ID: |
31613 |
Name: |
Inferior chorioretinal coloboma |
Synonym: |
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Definition: |
Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus. |
Comments: |
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Reference: |
HP:0031613 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
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:0031613 | HP:0031613 | Inferior chorioretinal coloboma | 0 | CL E G H | | | | | | | | | | |
Genes (0) :
Diseases (0) : |
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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