Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0011912 | HP:0011912 | Abnormality of the glenoid fossa | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0011912 | HP:0011912 | Abnormality of the glenoid fossa | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0011912 | HP:0011912 | Abnormality of the glenoid fossa | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0011912 | HP:0011912 | Abnormality of the glenoid fossa | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0011912 | HP:0011912 | Abnormality of the glenoid fossa | 0 | LYSET CL E G H | 26175 | 20218 | OMIM:619345 | DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN | | | | | | |
HP:0011912 | HP:0011912 | Abnormality of the glenoid fossa | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0011912 | HP:0011912 | Abnormality of the glenoid fossa | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0011912 | HP:0011912 | Abnormality of the glenoid fossa | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0011912 | HP:0011912 | Abnormality of the glenoid fossa | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0011912 | HP:0006591 | Absent glenoid fossa | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0011912 | HP:0000911 | Flat glenoid fossa | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | . | | | 65 | | |
HP:0011912 | HP:0006633 | Glenoid fossa hypoplasia | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040283 - Occasional | | | 65 | | |
HP:0011912 | HP:0006633 | Glenoid fossa hypoplasia | 1 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0011912 | HP:0006633 | Glenoid fossa hypoplasia | 1 | LYSET CL E G H | 26175 | 20218 | OMIM:619345 | DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN | | | | | | |
HP:0011912 | HP:0006591 | Absent glenoid fossa | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0011912 | HP:0006591 | Absent glenoid fossa | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0011912 | HP:0000911 | Flat glenoid fossa | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0011912 | HP:0006591 | Absent glenoid fossa | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0011912 | HP:0006633 | Glenoid fossa hypoplasia | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | |