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:0008780 | HP:0008780 | Congenital bilateral hip dislocation | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040283 - Occasional | | | 6 | | |
HP:0008780 | HP:0008780 | Congenital bilateral hip dislocation | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0008780 | HP:0008780 | Congenital bilateral hip dislocation | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:130060 | Ehlers-Danlos syndrome, arthrochalasia type, 1 | . | | | 373 | | |
HP:0008780 | HP:0008780 | Congenital bilateral hip dislocation | 0 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0008780 | HP:0008780 | Congenital bilateral hip dislocation | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0008780 | HP:0008780 | Congenital bilateral hip dislocation | 0 | SHROOM4 CL E G H | 57477 | 29215 | ORPHA:85288 | X-linked intellectual disability, Stocco Dos Santos type | HP:0040282 - Frequent | | | 42 | | |
HP:0008780 | HP:0008780 | Congenital bilateral hip dislocation | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | |