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:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | ALPL CL E G H | 249 | 438 | OMIM:241510 | Hypophosphatasia, childhood | | | | 126 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | | | | 126 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040283 - Occasional | | | | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 41 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | | | | 41 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 5 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | | | | 5 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | | | | 45 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | 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:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | | | | 145 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | 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:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | | | | 217 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | | | | 47 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | SLC34A3 CL E G H | 142680 | 20305 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | | | | 52 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | | | | 52 | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0000919 | HP:0000919 | Abnormality of the costochondral junction | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | | | | 104 | | |
HP:0000919 | HP:0006607 | Precocious costochondral ossification | 1 | CL E G H | | | | | | | | | | |
HP:0000919 | HP:0006606 | Irregular chondrocostal junctions | 1 | CL E G H | | | | | | | | | | |
HP:0000919 | HP:0006649 | Costochondral pain | 1 | CL E G H | | | | | | | | | | |
HP:0000919 | HP:0006623 | Costochondral joint sclerosis | 1 | CL E G H | | | | | | | | | | |
HP:0000919 | HP:0000897 | Rachitic rosary | 1 | ALPL CL E G H | 249 | 438 | OMIM:241510 | Hypophosphatasia, childhood | . | | | 126 | | |
HP:0000919 | HP:0000897 | Rachitic rosary | 1 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | . | | | 126 | | |
HP:0000919 | HP:0000897 | Rachitic rosary | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0000919 | HP:0000920 | Enlargement of the costochondral junction | 1 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 41 | | |
HP:0000919 | HP:0000897 | Rachitic rosary | 1 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 41 | | |
HP:0000919 | HP:0000893 | Bulging of the costochondral junction | 1 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0000919 | HP:0000920 | Enlargement of the costochondral junction | 1 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0000919 | HP:0000897 | Rachitic rosary | 1 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 5 | | |
HP:0000919 | HP:0000920 | Enlargement of the costochondral junction | 1 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 5 | | |
HP:0000919 | HP:0000893 | Bulging of the costochondral junction | 1 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | . | | | 5 | | |
HP:0000919 | HP:0000920 | Enlargement of the costochondral junction | 1 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | . | | | 5 | | |
HP:0000919 | HP:0006600 | Progressive calcification of costochondral cartilage | 1 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0000919 | HP:0000920 | Enlargement of the costochondral junction | 1 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0000919 | HP:0000920 | Enlargement of the costochondral junction | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | . | | | 65 | | |
HP:0000919 | HP:0000910 | Wide-cupped costochondral junctions | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | . | | | 145 | | |
HP:0000919 | HP:0000910 | Wide-cupped costochondral junctions | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | . | | | 145 | | |
HP:0000919 | HP:0000920 | Enlargement of the costochondral junction | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | . | | | 22 | | |
HP:0000919 | HP:0000920 | Enlargement of the costochondral junction | 1 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | HP:0040283 - Occasional | | | 217 | | |
HP:0000919 | HP:0000897 | Rachitic rosary | 1 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | HP:0040282 - Frequent | | | 217 | | |
HP:0000919 | HP:0000920 | Enlargement of the costochondral junction | 1 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0000919 | HP:0000920 | Enlargement of the costochondral junction | 1 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0000919 | HP:0000897 | Rachitic rosary | 1 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040283 - Occasional | | | 47 | | |
HP:0000919 | HP:0000897 | Rachitic rosary | 1 | SLC34A3 CL E G H | 142680 | 20305 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040283 - Occasional | | | 52 | | |
HP:0000919 | HP:0000920 | Enlargement of the costochondral junction | 1 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | . | | | 52 | | |
HP:0000919 | HP:0000893 | Bulging of the costochondral junction | 1 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | . | | | 52 | | |
HP:0000919 | HP:0000920 | Enlargement of the costochondral junction | 1 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0000919 | HP:0000893 | Bulging of the costochondral junction | 1 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |