Term ID: |
7911 |
Name: |
Congenital bilateral ptosis |
Synonym: |
Congenital drooping of both upper eyelids; Ptosis, bilateral congenital; Ptosis, congenital bilateral |
Definition: |
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Comments: |
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Reference: |
HP:0007911 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0007911 | HP:0007911 | Congenital bilateral ptosis | 0 | IGF1 CL E G H | 3479 | 73272 | | | | ORPHA | 0 | | 183 | 5464 | 147440 |
Genes (1) :IGF1
Diseases (1) :73272 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.
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