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:0007651 | HP:0007651 | Ectropion of lower eyelids | 0 | CDH1 CL E G H | 999 | 1748 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | HP:0040281 - Very frequent | | | 1003 | | |
HP:0007651 | HP:0007651 | Ectropion of lower eyelids | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:119580 | Blepharocheilodontic syndrome 1 | . | | | 1003 | | |
HP:0007651 | HP:0007651 | Ectropion of lower eyelids | 0 | CTNND1 CL E G H | 1500 | 2515 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | HP:0040281 - Very frequent | | | | | |
HP:0007651 | HP:0007651 | Ectropion of lower eyelids | 0 | CTNND1 CL E G H | 1500 | 2515 | OMIM:617681 | Blepharocheilodontic syndrome 2 | . | | | | | |
HP:0007651 | HP:0007651 | Ectropion of lower eyelids | 0 | DHODH CL E G H | 1723 | 2867 | ORPHA:246 | Postaxial acrofacial dysostosis | HP:0040281 - Very frequent | | | 59 | | |
HP:0007651 | HP:0007651 | Ectropion of lower eyelids | 0 | DLX4 CL E G H | 1748 | 2917 | OMIM:616788 | Orofacial cleft 15 | | | | 1 | | |
HP:0007651 | HP:0007651 | Ectropion of lower eyelids | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0007651 | HP:0007651 | Ectropion of lower eyelids | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |