Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001030	HP:0001030	Fragile skin	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0001030	HP:0001030	Fragile skin	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0001030	HP:0001030	Fragile skin	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0001030	HP:0001030	Fragile skin	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	.	7
HP:0001030	HP:0001030	Fragile skin	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0001030	HP:0001030	Fragile skin	0	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:0001030	HP:0001030	Fragile skin	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040281 - Very frequent	129
HP:0001030	HP:0001030	Fragile skin	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0001030	HP:0001030	Fragile skin	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0001030	HP:0001030	Fragile skin	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0001030	HP:0001030	Fragile skin	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	660
HP:0001030	HP:0001030	Fragile skin	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.	660
HP:0001030	HP:0001030	Fragile skin	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	325
HP:0001030	HP:0001030	Fragile skin	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0001030	HP:0001030	Fragile skin	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040282 - Frequent	263
HP:0001030	HP:0001030	Fragile skin	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040281 - Very frequent	263
HP:0001030	HP:0001030	Fragile skin	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent	263
HP:0001030	HP:0001030	Fragile skin	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	263
HP:0001030	HP:0001030	Fragile skin	0	COL7A1 CL E G H	1294	2214	OMIM:604129	Epidermolysis bullosa pruriginosa	.	263
HP:0001030	HP:0001030	Fragile skin	0	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails	.	263
HP:0001030	HP:0001030	Fragile skin	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0001030	HP:0001030	Fragile skin	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent	263
HP:0001030	HP:0001030	Fragile skin	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040281 - Very frequent	263
HP:0001030	HP:0001030	Fragile skin	0	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040282 - Frequent	263
HP:0001030	HP:0001030	Fragile skin	0	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn	.	263
HP:0001030	HP:0001030	Fragile skin	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional	72
HP:0001030	HP:0001030	Fragile skin	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0001030	HP:0001030	Fragile skin	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome	.	747
HP:0001030	HP:0001030	Fragile skin	0	EXPH5 CL E G H	23086	30578	OMIM:615028	Epidermolysis bullosa, nonspecific, autosomal recessive	.	2
HP:0001030	HP:0001030	Fragile skin	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome	.	136
HP:0001030	HP:0001030	Fragile skin	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	29
HP:0001030	HP:0001030	Fragile skin	0	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda	.	38
HP:0001030	HP:0001030	Fragile skin	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0001030	HP:0001030	Fragile skin	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	124
HP:0001030	HP:0001030	Fragile skin	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:0001030	HP:0001030	Fragile skin	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040281 - Very frequent	124
HP:0001030	HP:0001030	Fragile skin	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222
HP:0001030	HP:0001030	Fragile skin	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.	222
HP:0001030	HP:0001030	Fragile skin	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		110
HP:0001030	HP:0001030	Fragile skin	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040281 - Very frequent	110
HP:0001030	HP:0001030	Fragile skin	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		110
HP:0001030	HP:0001030	Fragile skin	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0001030	HP:0001030	Fragile skin	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		173
HP:0001030	HP:0001030	Fragile skin	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040281 - Very frequent	173
HP:0001030	HP:0001030	Fragile skin	0	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema		173
HP:0001030	HP:0001030	Fragile skin	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0001030	HP:0001030	Fragile skin	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0001030	HP:0001030	Fragile skin	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	116
HP:0001030	HP:0001030	Fragile skin	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	167
HP:0001030	HP:0001030	Fragile skin	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	135
HP:0001030	HP:0001030	Fragile skin	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent	6
HP:0001030	HP:0001030	Fragile skin	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	6
HP:0001030	HP:0001030	Fragile skin	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0001030	HP:0001030	Fragile skin	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040281 - Very frequent	107
HP:0001030	HP:0001030	Fragile skin	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0001030	HP:0001030	Fragile skin	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	.	759
HP:0001030	HP:0001030	Fragile skin	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	759
HP:0001030	HP:0001030	Fragile skin	0	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type		759
HP:0001030	HP:0001030	Fragile skin	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759
HP:0001030	HP:0001030	Fragile skin	0	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	HP:0040282 - Frequent	759
HP:0001030	HP:0001030	Fragile skin	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040281 - Very frequent	105
HP:0001030	HP:0001030	Fragile skin	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0001030	HP:0001030	Fragile skin	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040281 - Very frequent	31
HP:0001030	HP:0001030	Fragile skin	0	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda	.	31
HP:0001030	HP:0001030	Fragile skin	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	41
HP:0001030	HP:0007585	Skin fragility with non-scarring blistering	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	124
HP:0001030	HP:0007585	Skin fragility with non-scarring blistering	1	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040281 - Very frequent	110
HP:0001030	HP:0007585	Skin fragility with non-scarring blistering	1	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040281 - Very frequent	110
HP:0001030	HP:0007585	Skin fragility with non-scarring blistering	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	110
HP:0001030	HP:0007585	Skin fragility with non-scarring blistering	1	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040281 - Very frequent	173
HP:0001030	HP:0007585	Skin fragility with non-scarring blistering	1	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema	HP:0040282 - Frequent	173
HP:0001030	HP:0007585	Skin fragility with non-scarring blistering	1	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040281 - Very frequent	173
HP:0001030	HP:0007585	Skin fragility with non-scarring blistering	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	173
HP:0001030	HP:0007585	Skin fragility with non-scarring blistering	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	759
HP:0001030	HP:0007585	Skin fragility with non-scarring blistering	1	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type	.	759