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:0010241 | HP:0010241 | Short proximal phalanx of finger | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0010241 | HP:0010241 | Short proximal phalanx of finger | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | | | | 284 | | |
HP:0010241 | HP:0010241 | Short proximal phalanx of finger | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | HP:0040282 - Frequent | | | 145 | | |
HP:0010241 | HP:0010241 | Short proximal phalanx of finger | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0010241 | HP:0010241 | Short proximal phalanx of finger | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0010241 | HP:0010241 | Short proximal phalanx of finger | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0010241 | HP:0010241 | Short proximal phalanx of finger | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0010241 | HP:0009459 | Short proximal phalanx of the 3rd finger | 1 | CL E G H | | | | | | | | | | |
HP:0010241 | HP:0009301 | Short proximal phalanx of the 4th finger | 1 | CL E G H | | | | | | | | | | |
HP:0010241 | HP:0006144 | Shortening of all proximal phalanges of the fingers | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0010241 | HP:0006144 | Shortening of all proximal phalanges of the fingers | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | . | | | 52 | | |
HP:0010241 | HP:0009597 | Short proximal phalanx of the 2nd finger | 1 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0010241 | HP:0009226 | Short proximal phalanx of the 5th finger | 1 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |