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:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | | | | 4 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:102370 | Acromicric dysplasia | | | | 1361 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | | | | 1361 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | | | | 136 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | | | | 3 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | | | | 493 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | | | | 101 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | | | | 25 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | | | | 25 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | | | | 12 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | NOG CL E G H | 9241 | 7866 | OMIM:185800 | Symphalangism, proximal, 1A | | | | 22 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619638 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP | | | | | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | | | | 90 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0010013 | HP:0010013 | Abnormal 5th metacarpal morphology | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0010013 | HP:0010226 | Abnormality of the epiphysis of the 5th metacarpal | 1 | CL E G H | | | | | | | | | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0010013 | HP:0009708 | Synostosis involving the 5th metacarpal | 1 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | | | | 4 | | |
HP:0010013 | HP:0005900 | Fifth metacarpal with ulnar notch | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | HP:0040283 - Occasional | | | 1361 | | |
HP:0010013 | HP:0005900 | Fifth metacarpal with ulnar notch | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:102370 | Acromicric dysplasia | . | | | 1361 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | | | | 136 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | | | | 3 | | |
HP:0010013 | HP:0009708 | Synostosis involving the 5th metacarpal | 1 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | | | | 3 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | | | | 493 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | | | | 101 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | | | | 25 | | |
HP:0010013 | HP:0009708 | Synostosis involving the 5th metacarpal | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | | | | 25 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0010013 | HP:0005900 | Fifth metacarpal with ulnar notch | 1 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | HP:0040283 - Occasional | | | 12 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | NOG CL E G H | 9241 | 7866 | OMIM:185800 | Symphalangism, proximal, 1A | | | | 22 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619638 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP | | | | | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | | | | 90 | | |
HP:0010013 | HP:0009708 | Synostosis involving the 5th metacarpal | 1 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0010013 | HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0010013 | HP:0009234 | Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal | 2 | CL E G H | | | | | | | | | | |
HP:0010013 | HP:0041121 | Fractured epiphysis of fifth metacarpal bone | 2 | CL E G H | | | | | | | | | | |
HP:0010013 | HP:0010227 | Pseudoepiphysis of the 5th metacarpal | 2 | CL E G H | | | | | | | | | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0010013 | HP:0005867 | 4-5 metacarpal synostosis | 2 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | | | | 4 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040283 - Occasional | | | 136 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | | | | 3 | | |
HP:0010013 | HP:0005867 | 4-5 metacarpal synostosis | 2 | FGF16 CL E G H | 8823 | 3672 | OMIM:309630 | Metacarpal 4-5 fusion | | | | 3 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | HP:0040282 - Frequent | | | 101 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93409 | Brachydactyly-syndactyly, Zhao type | HP:0040281 - Very frequent | | | 25 | | |
HP:0010013 | HP:0005867 | 4-5 metacarpal synostosis | 2 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186300 | Syndactyly, type V | | | | 25 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | NOG CL E G H | 9241 | 7866 | OMIM:185800 | Symphalangism, proximal, 1A | . | | | 22 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619638 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP | | | | | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | RUNX2 CL E G H | 860 | 10472 | OMIM:156510 | Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | . | | | 90 | | |
HP:0010013 | HP:0005867 | 4-5 metacarpal synostosis | 2 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0010013 | HP:0010047 | Short 5th metacarpal | 2 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0010013 | HP:0010046 | Aplasia of the 5th metacarpal | 2 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |