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: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