Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000481	HP:0000481	Abnormal cornea morphology	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	755	2348	600140
HP:0000481	HP:0000481	Abnormal cornea morphology	0	DNAI1 CL E G H	27019	244400	Kartagener syndrome	244400	C0022521	OMIM	1	38	283	2954	604366
HP:0000481	HP:0000481	Abnormal cornea morphology	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	415	3373	602700
HP:0000481	HP:0000481	Abnormal cornea morphology	0	MEGF8 CL E G H	1954	65759				ORPHA	1	19	225	3233	604267
HP:0000481	HP:0000481	Abnormal cornea morphology	0	PITX2 CL E G H	5308	180550	Ring dermoid of cornea	180550	C1867155	OMIM	1	104	136	9005	601542
HP:0000481	HP:0000481	Abnormal cornea morphology	0	RAB23 CL E G H	51715	65759				ORPHA	1	15	105	14263	606144
HP:0000481	HP:0000481	Abnormal cornea morphology	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	755	2348	600140
HP:0000481	HP:0000481	Abnormal cornea morphology	1	DNAI1 CL E G H	27019	244400	Kartagener syndrome	244400	C0022521	OMIM	1	38	283	2954	604366
HP:0000481	HP:0000481	Abnormal cornea morphology	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	415	3373	602700
HP:0000481	HP:0000481	Abnormal cornea morphology	1	MEGF8 CL E G H	1954	65759				ORPHA	1	19	225	3233	604267
HP:0000481	HP:0000481	Abnormal cornea morphology	1	PITX2 CL E G H	5308	180550	Ring dermoid of cornea	180550	C1867155	OMIM	1	104	136	9005	601542
HP:0000481	HP:0000481	Abnormal cornea morphology	1	RAB23 CL E G H	51715	65759				ORPHA	1	15	105	14263	606144
HP:0000481	HP:0000481	Abnormal cornea morphology	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	755	2348	600140
HP:0000481	HP:0000481	Abnormal cornea morphology	2	DNAI1 CL E G H	27019	244400	Kartagener syndrome	244400	C0022521	OMIM	1	38	283	2954	604366
HP:0000481	HP:0000481	Abnormal cornea morphology	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	415	3373	602700
HP:0000481	HP:0000481	Abnormal cornea morphology	2	MEGF8 CL E G H	1954	65759				ORPHA	1	19	225	3233	604267
HP:0000481	HP:0000481	Abnormal cornea morphology	2	PITX2 CL E G H	5308	180550	Ring dermoid of cornea	180550	C1867155	OMIM	1	104	136	9005	601542
HP:0000481	HP:0000481	Abnormal cornea morphology	2	RAB23 CL E G H	51715	65759				ORPHA	1	15	105	14263	606144
HP:0000481	HP:0000481	Abnormal cornea morphology	3	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	755	2348	600140
HP:0000481	HP:0000481	Abnormal cornea morphology	3	DNAI1 CL E G H	27019	244400	Kartagener syndrome	244400	C0022521	OMIM	1	38	283	2954	604366
HP:0000481	HP:0000481	Abnormal cornea morphology	3	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	415	3373	602700
HP:0000481	HP:0000481	Abnormal cornea morphology	3	MEGF8 CL E G H	1954	65759				ORPHA	1	19	225	3233	604267
HP:0000481	HP:0000481	Abnormal cornea morphology	3	PITX2 CL E G H	5308	180550	Ring dermoid of cornea	180550	C1867155	OMIM	1	104	136	9005	601542
HP:0000481	HP:0000481	Abnormal cornea morphology	3	RAB23 CL E G H	51715	65759				ORPHA	1	15	105	14263	606144
HP:0000481	HP:0000481	Abnormal cornea morphology	4	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	755	2348	600140
HP:0000481	HP:0000481	Abnormal cornea morphology	4	DNAI1 CL E G H	27019	244400	Kartagener syndrome	244400	C0022521	OMIM	1	38	283	2954	604366
HP:0000481	HP:0000481	Abnormal cornea morphology	4	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	415	3373	602700
HP:0000481	HP:0000481	Abnormal cornea morphology	4	MEGF8 CL E G H	1954	65759				ORPHA	1	19	225	3233	604267
HP:0000481	HP:0000481	Abnormal cornea morphology	4	PITX2 CL E G H	5308	180550	Ring dermoid of cornea	180550	C1867155	OMIM	1	104	136	9005	601542
HP:0000481	HP:0000481	Abnormal cornea morphology	4	RAB23 CL E G H	51715	65759				ORPHA	1	15	105	14263	606144
HP:0000481	HP:0000481	Abnormal cornea morphology	5	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	755	2348	600140
HP:0000481	HP:0000481	Abnormal cornea morphology	5	DNAI1 CL E G H	27019	244400	Kartagener syndrome	244400	C0022521	OMIM	1	38	283	2954	604366
HP:0000481	HP:0000481	Abnormal cornea morphology	5	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	415	3373	602700
HP:0000481	HP:0000481	Abnormal cornea morphology	5	MEGF8 CL E G H	1954	65759				ORPHA	1	19	225	3233	604267
HP:0000481	HP:0000481	Abnormal cornea morphology	5	PITX2 CL E G H	5308	180550	Ring dermoid of cornea	180550	C1867155	OMIM	1	104	136	9005	601542
HP:0000481	HP:0000481	Abnormal cornea morphology	5	RAB23 CL E G H	51715	65759				ORPHA	1	15	105	14263	606144
HPO disease - gene - phenotype less frequent non-typical associations: