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:0001040 | HP:0001040 | Multiple pterygia | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 74 | | |
HP:0001040 | HP:0001040 | Multiple pterygia | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 88 | | |
HP:0001040 | HP:0001040 | Multiple pterygia | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0001040 | HP:0001040 | Multiple pterygia | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 68 | | |
HP:0001040 | HP:0001040 | Multiple pterygia | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0001040 | HP:0001040 | Multiple pterygia | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:178110 | Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A | . | | | 166 | | |