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:0007589 | HP:0007589 | Aplasia cutis congenita on trunk or limbs | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | . | | | 147 | | |
HP:0007589 | HP:0007589 | Aplasia cutis congenita on trunk or limbs | 0 | ITGA6 CL E G H | 3655 | 6142 | OMIM:619817 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6 | | | | 79 | | |
HP:0007589 | HP:0007589 | Aplasia cutis congenita on trunk or limbs | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040283 - Occasional | | | 124 | | |
HP:0007589 | HP:0007589 | Aplasia cutis congenita on trunk or limbs | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | | | | 124 | | |
HP:0007589 | HP:0007589 | Aplasia cutis congenita on trunk or limbs | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 110 | | |
HP:0007589 | HP:0007589 | Aplasia cutis congenita on trunk or limbs | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | HP:0040283 - Occasional | | | 110 | | |
HP:0007589 | HP:0007589 | Aplasia cutis congenita on trunk or limbs | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 173 | | |
HP:0007589 | HP:0007589 | Aplasia cutis congenita on trunk or limbs | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040283 - Occasional | | | 759 | | |
HP:0007589 | HP:0007589 | Aplasia cutis congenita on trunk or limbs | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | | | | 759 | | |