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:0010011 | HP:0010011 | Abnormal 3rd metacarpal morphology | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | | | | 493 | | |
HP:0010011 | HP:0010011 | Abnormal 3rd metacarpal morphology | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0010011 | HP:0010011 | Abnormal 3rd metacarpal morphology | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0010011 | HP:0010011 | Abnormal 3rd metacarpal morphology | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0010011 | HP:0010011 | Abnormal 3rd metacarpal morphology | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0010011 | HP:0010011 | Abnormal 3rd metacarpal morphology | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0010011 | HP:0010222 | Abnormality of the epiphysis of the 3rd metacarpal | 1 | CL E G H | | | | | | | | | | |
HP:0010011 | HP:0009706 | Synostosis involving the 3rd metacarpal | 1 | CL E G H | | | | | | | | | | |
HP:0010011 | HP:0010039 | Aplasia/Hypoplasia of the 3rd metacarpal | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | | | | 493 | | |
HP:0010011 | HP:0010039 | Aplasia/Hypoplasia of the 3rd metacarpal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0010011 | HP:0010039 | Aplasia/Hypoplasia of the 3rd metacarpal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0010011 | HP:0010039 | Aplasia/Hypoplasia of the 3rd metacarpal | 1 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0010011 | HP:0010039 | Aplasia/Hypoplasia of the 3rd metacarpal | 1 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0010011 | HP:0010039 | Aplasia/Hypoplasia of the 3rd metacarpal | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0010011 | HP:0041191 | Fractured epiphysis of third metacarpal bone | 2 | CL E G H | | | | | | | | | | |
HP:0010011 | HP:0010223 | Pseudoepiphysis of the 3rd metacarpal | 2 | CL E G H | | | | | | | | | | |
HP:0010011 | HP:0009483 | Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal | 2 | CL E G H | | | | | | | | | | |
HP:0010011 | HP:4000062 | 3-4 metacarpal synostosis | 2 | CL E G H | | | | | | | | | | |
HP:0010011 | HP:0010041 | Short 3rd metacarpal | 2 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0010011 | HP:0010041 | Short 3rd metacarpal | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0010011 | HP:0010041 | Short 3rd metacarpal | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040283 - Occasional | | | 101 | | |
HP:0010011 | HP:0010041 | Short 3rd metacarpal | 2 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0010011 | HP:0010041 | Short 3rd metacarpal | 2 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0010011 | HP:0010040 | Aplasia of the 3rd metacarpal | 2 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |