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:0004439 | HP:0004439 | Craniofacial dysostosis | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:60015 | Enlarged parietal foramina | | | | 132 | | |
HP:0004439 | HP:0004439 | Craniofacial dysostosis | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | | | | 3 | | |
HP:0004439 | HP:0004439 | Craniofacial dysostosis | 0 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | | | | 48 | | |
HP:0004439 | HP:0004439 | Craniofacial dysostosis | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | . | | | 175 | | |
HP:0004439 | HP:0004439 | Craniofacial dysostosis | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0004439 | HP:0004439 | Craniofacial dysostosis | 0 | MSX2 CL E G H | 4488 | 7392 | ORPHA:60015 | Enlarged parietal foramina | | | | 45 | | |
HP:0004439 | HP:0004439 | Craniofacial dysostosis | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 113 | | |
HP:0004439 | HP:0004439 | Craniofacial dysostosis | 0 | POLR1C CL E G H | 9533 | 20194 | OMIM:248390 | Treacher collins syndrome 3 | | | | 38 | | |
HP:0004439 | HP:0004439 | Craniofacial dysostosis | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 134 | | |
HP:0004439 | HP:0004439 | Craniofacial dysostosis | 0 | RPS26 CL E G H | 6231 | 10414 | OMIM:613309 | Diamond-blackfan anemia 10 | | | | 20 | | |
HP:0004439 | HP:0004439 | Craniofacial dysostosis | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2095 | Gorlin-Chaudhry-Moss syndrome | | | | | | |
HP:0004439 | HP:0008497 | Congenital craniofacial dysostosis | 1 | ALX4 CL E G H | 60529 | 450 | ORPHA:60015 | Enlarged parietal foramina | HP:0040284 - Very rare | | | 132 | | |
HP:0004439 | HP:0005321 | Mandibulofacial dysostosis | 1 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | . | | | 3 | | |
HP:0004439 | HP:0005321 | Mandibulofacial dysostosis | 1 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | . | | | 48 | | |
HP:0004439 | HP:0008497 | Congenital craniofacial dysostosis | 1 | MSX2 CL E G H | 4488 | 7392 | ORPHA:60015 | Enlarged parietal foramina | HP:0040284 - Very rare | | | 45 | | |
HP:0004439 | HP:0008497 | Congenital craniofacial dysostosis | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 113 | | |
HP:0004439 | HP:0005321 | Mandibulofacial dysostosis | 1 | POLR1C CL E G H | 9533 | 20194 | OMIM:248390 | Treacher collins syndrome 3 | . | | | 38 | | |
HP:0004439 | HP:0008497 | Congenital craniofacial dysostosis | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 134 | | |
HP:0004439 | HP:0005321 | Mandibulofacial dysostosis | 1 | RPS26 CL E G H | 6231 | 10414 | OMIM:613309 | Diamond-blackfan anemia 10 | HP:0040283 - Occasional | | | 20 | | |
HP:0004439 | HP:0008497 | Congenital craniofacial dysostosis | 1 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2095 | Gorlin-Chaudhry-Moss syndrome | HP:0040281 - Very frequent | | | | | |