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:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16		108
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9		108
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		157
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		184
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type		184
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14		34
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14		34
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		213
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0030112	HP:0030112	Abnormal muscle fiber alpha dystroglycan	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040281 - Very frequent
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040281 - Very frequent	108
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.	108
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	157
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	157
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	157
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	157
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040281 - Very frequent	157
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040281 - Very frequent	184
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	34
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	34
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	34
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	34
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.	34
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.	34
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	.	34
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	136
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	136
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	180
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	180
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	18
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	18
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	213
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	213
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	213
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	213
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	221
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	221
HP:0030112	HP:0030046	Hypoglycosylation of alpha-dystroglycan	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	221
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	221
HP:0030112	HP:0030099	Reduced muscle fiber alpha dystroglycan	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040281 - Very frequent	221