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:0001056 | HP:0001056 | Milia | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0001056 | HP:0001056 | Milia | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040284 - Very rare | | | 129 | | |
HP:0001056 | HP:0001056 | Milia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa | HP:0040282 - Frequent | | | 263 | | |
HP:0001056 | HP:0001056 | Milia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040282 - Frequent | | | 263 | | |
HP:0001056 | HP:0001056 | Milia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040281 - Very frequent | | | 263 | | |
HP:0001056 | HP:0001056 | Milia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89843 | Dystrophic epidermolysis bullosa pruriginosa | HP:0040283 - Occasional | | | 263 | | |
HP:0001056 | HP:0001056 | Milia | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:131750 | Epidermolysis bullosa dystrophica, autosomal dominant | . | | | 263 | | |
HP:0001056 | HP:0001056 | Milia | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 263 | | |
HP:0001056 | HP:0001056 | Milia | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:604129 | Epidermolysis bullosa pruriginosa | . | | | 263 | | |
HP:0001056 | HP:0001056 | Milia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158673 | Localized dystrophic epidermolysis bullosa, acral form | HP:0040282 - Frequent | | | 263 | | |
HP:0001056 | HP:0001056 | Milia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79410 | Localized dystrophic epidermolysis bullosa, pretibial form | HP:0040282 - Frequent | | | 263 | | |
HP:0001056 | HP:0001056 | Milia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79409 | Recessive dystrophic epidermolysis bullosa inversa | HP:0040282 - Frequent | | | 263 | | |
HP:0001056 | HP:0001056 | Milia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79411 | Self-improving dystrophic epidermolysis bullosa | HP:0040282 - Frequent | | | 263 | | |
HP:0001056 | HP:0001056 | Milia | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:131705 | Transient bullous dermolysis of the newborn | . | | | 263 | | |
HP:0001056 | HP:0001056 | Milia | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:605041 | Brooke-Spiegler syndrome | . | | | 126 | | |
HP:0001056 | HP:0001056 | Milia | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040283 - Occasional | | | 136 | | |
HP:0001056 | HP:0001056 | Milia | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040283 - Occasional | | | 124 | | |
HP:0001056 | HP:0001056 | Milia | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 124 | | |
HP:0001056 | HP:0001056 | Milia | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 124 | | |
HP:0001056 | HP:0001056 | Milia | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040284 - Very rare | | | 124 | | |
HP:0001056 | HP:0001056 | Milia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040283 - Occasional | | | 110 | | |
HP:0001056 | HP:0001056 | Milia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 110 | | |
HP:0001056 | HP:0001056 | Milia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | HP:0040283 - Occasional | | | 110 | | |
HP:0001056 | HP:0001056 | Milia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040283 - Occasional | | | 110 | | |
HP:0001056 | HP:0001056 | Milia | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | . | | | 110 | | |
HP:0001056 | HP:0001056 | Milia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040284 - Very rare | | | 110 | | |
HP:0001056 | HP:0001056 | Milia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0001056 | HP:0001056 | Milia | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040283 - Occasional | | | 173 | | |
HP:0001056 | HP:0001056 | Milia | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040282 - Frequent | | | 173 | | |
HP:0001056 | HP:0001056 | Milia | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040283 - Occasional | | | 173 | | |
HP:0001056 | HP:0001056 | Milia | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | . | | | 173 | | |
HP:0001056 | HP:0001056 | Milia | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040284 - Very rare | | | 173 | | |
HP:0001056 | HP:0001056 | Milia | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 116 | | |
HP:0001056 | HP:0001056 | Milia | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0001056 | HP:0001056 | Milia | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 167 | | |
HP:0001056 | HP:0001056 | Milia | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 167 | | |
HP:0001056 | HP:0001056 | Milia | 0 | LAMC2 CL E G H | 3918 | 6493 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 135 | | |
HP:0001056 | HP:0001056 | Milia | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 135 | | |
HP:0001056 | HP:0001056 | Milia | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0001056 | HP:0001056 | Milia | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040281 - Very frequent | | | 6 | | |
HP:0001056 | HP:0001056 | Milia | 0 | MMP1 CL E G H | 4312 | 7155 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 6 | | |
HP:0001056 | HP:0001056 | Milia | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | HP:0003593 - Infantile onset | | 201 | | |
HP:0001056 | HP:0001056 | Milia | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0001056 | HP:0001056 | Milia | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | . | | | 759 | | |
HP:0001056 | HP:0001056 | Milia | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040283 - Occasional | | | 759 | | |
HP:0001056 | HP:0001056 | Milia | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 759 | | |
HP:0001056 | HP:0001056 | Milia | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040283 - Occasional | | | 41 | | |
HP:0001056 | HP:0001056 | Milia | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0001056 | HP:0001056 | Milia | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0001056 | HP:0001056 | Milia | 0 | SMARCAD1 CL E G H | 56916 | 18398 | ORPHA:1658 | Absence of fingerprints-congenital milia syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0001056 | HP:0001056 | Milia | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:129200 | Basan syndrome | | | | 6 | | |
HP:0001056 | HP:0001056 | Milia | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |