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:0100254 | HP:0100254 | Stenosis of the medullary cavity of the long bones | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0100254 | HP:0100254 | Stenosis of the medullary cavity of the long bones | 0 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | . | | | 85 | | |
HP:0100254 | HP:0100254 | Stenosis of the medullary cavity of the long bones | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:93324 | Autosomal recessive Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 52 | | |