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:0200097 | HP:0200097 | Oral mucosal blisters | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79406 | Late-onset junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 129 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa | HP:0040283 - Occasional | | | 263 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040281 - Very frequent | | | 263 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | | | | 263 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:132000 | Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails | | | | 263 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79410 | Localized dystrophic epidermolysis bullosa, pretibial form | HP:0040283 - Occasional | | | 263 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79409 | Recessive dystrophic epidermolysis bullosa inversa | HP:0040282 - Frequent | | | 263 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79411 | Self-improving dystrophic epidermolysis bullosa | HP:0040282 - Frequent | | | 263 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | DSG3 CL E G H | 1830 | 3050 | OMIM:619226 | BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA; ABOLM | | | | | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | ITGA6 CL E G H | 3655 | 6142 | OMIM:619817 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6 | | | | 79 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | ITGA6 CL E G H | 3655 | 6142 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040281 - Very frequent | | | 79 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040282 - Frequent | | | 124 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | | | | 124 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 124 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040281 - Very frequent | | | 124 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040283 - Occasional | | | 110 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 110 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | HP:0040282 - Frequent | | | 110 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040283 - Occasional | | | 110 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | . | | | 110 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040284 - Very rare | | | 110 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040283 - Occasional | | | 173 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 173 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619555 | EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A | | | | 173 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619599 | EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D | | | | 173 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040283 - Occasional | | | 173 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | . | | | 173 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040284 - Very rare | | | 173 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:619783 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE; JEB2A | | | | 116 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:619784 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B | | | | 116 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226650 | Epidermolysis bullosa, junctional, Non-Herlitz type | . | | | 167 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 167 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | LAMC2 CL E G H | 3918 | 6493 | OMIM:619786 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B | | | | 135 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 135 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040281 - Very frequent | | | 6 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | MMP1 CL E G H | 4312 | 7155 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | | | | 6 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040282 - Frequent | | | 759 | | |
HP:0200097 | HP:0200097 | Oral mucosal blisters | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | | | | 759 | | |