Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0100298	Motheaten muscle fibers	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0003805	Rimmed vacuoles	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0100293	Muscle fiber hypertrophy	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030362	Reduced muscle carnitine level	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0003791	Deposits immunoreactive to beta-amyloid protein	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0031542	Myelin-like whorls in vacuolated fibers	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0012269	Abnormal muscle glycogen content	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0003555	Muscle fiber splitting	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0100296	Perifascicular muscle fiber atrophy	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030230	Central core regions in muscle fibers	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0003713	Muscle fiber necrosis	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0009058	Increased muscle lipid content	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0100295	Muscle fiber atrophy	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0100305	Ring fibers	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0003736	Autophagic vacuoles	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0031238	Necklace skeletal muscle fibers	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030228	Abnormal muscle fiber valosin-containing protein	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030103	Abnormal muscle fiber beta sarcoglycan	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030104	Abnormal muscle fiber gamma sarcoglycan	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030119	Abnormal muscle fiber calpain-3	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0012240	Increased intramyocellular lipid droplets	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030123	Abnormal muscle fiber lamin A/C	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030090	Abnormal muscle fiber merosin expression	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030113	Abnormal muscle fiber dysferlin	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030122	Reduced muscle fiber perlecan	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0010602	Type 2 muscle fiber predominance	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0009051	Increased muscle glycogen content	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030105	Abnormal muscle fiber delta sarcoglycan	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0020202	Abnormal Z disc morphology	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0025200	Muscle fiber actin filament accumulation	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030226	Abnormal muscle fiber myotilin	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030096	Abnormal muscle fiber dystrophin expression	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030095	Reduced muscle collagen VI	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0012270	Decreased muscle glycogen content	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030093	Abnormal muscle fiber laminin beta 1	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030224	Abnormal muscle fiber desmin	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0031237	Internally nucleated skeletal muscle fibers	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030100	Abnormal muscle fiber alpha sarcoglycan	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030116	Abnormal muscle fiber emerin	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0100304	Muscle fiber intranuclear inclusion bodies	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0033685	Fiber type grouping	2	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030120	Absent muscle fiber calpain-3	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030124	Reduced muscle fiber lamin A/C	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030232	Increased sarcoplasmic glycogen	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030111	Reduced muscle fiber delta sarcoglycan	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030091	Absent muscle fiber merosin	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0020203	Z-band streaming	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030114	Absent muscle fiber dysferlin	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0100300	Desmin bodies	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030098	Reduced muscle dystrophin expression	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0003798	Nemaline bodies	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030231	Glycogen accumulation in muscle fiber lysosomes	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030110	Absent muscle fiber delta sarcoglycan	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0033008	Increased Z-disc width	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030227	Accumulation of muscle fiber myotilin	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030097	Absent muscle dystrophin expression	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0100302	Muscle fiber tubuloreticular inclusions	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030102	Reduced muscle fiber alpha sarcoglycan	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030118	Reduced muscle fiber emerin	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030108	Reduced muscle fiber gamma sarcoglycan	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030094	Reduced muscle fiber laminin beta 1	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030225	Accumulation of muscle fiber desmin	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0100301	Muscle fiber tubular inclusions	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030101	Absent muscle fiber alpha sarcoglycan	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030117	Absent muscle fiber emerin	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030107	Reduced muscle fiber beta sarcoglycan	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030121	Reduced muscle fiber calpain-3	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030092	Reduced muscle fiber merosin	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030115	Reduced muscle fiber dysferlin	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0100306	Muscle fiber hyaline bodies	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030229	Accumulation of muscle fiber valosin-containing protein	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030106	Absent muscle fiber beta sarcoglycan	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HP:0004303	HP:0030109	Absent muscle fiber gamma sarcoglycan	3	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	417	1529	601253
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004303	HP:0004303	Abnormal muscle fiber morphology	0	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0100295	Muscle fiber atrophy	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0100305	Ring fibers	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0020201	Abnormal sarcomere morphology	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0100299	Muscle fiber inclusion bodies	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030089	Abnormal muscle fiber protein expression	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0003736	Autophagic vacuoles	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0100297	Increased endomysial connective tissue	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0031238	Necklace skeletal muscle fibers	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0003805	Rimmed vacuoles	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0100293	Muscle fiber hypertrophy	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030362	Reduced muscle carnitine level	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0033684	Abnormal muscle fiber-type distribution	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0003791	Deposits immunoreactive to beta-amyloid protein	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0031542	Myelin-like whorls in vacuolated fibers	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0012269	Abnormal muscle glycogen content	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0100298	Motheaten muscle fibers	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0003687	Centrally nucleated skeletal muscle fibers	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0003555	Muscle fiber splitting	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0003200	Ragged-red muscle fibers	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0012084	Abnormality of skeletal muscle fiber size	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030230	Central core regions in muscle fibers	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0003713	Muscle fiber necrosis	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0009058	Increased muscle lipid content	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0100296	Perifascicular muscle fiber atrophy	1	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030093	Abnormal muscle fiber laminin beta 1	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030224	Abnormal muscle fiber desmin	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0031237	Internally nucleated skeletal muscle fibers	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030100	Abnormal muscle fiber alpha sarcoglycan	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030116	Abnormal muscle fiber emerin	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0100304	Muscle fiber intranuclear inclusion bodies	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0033685	Fiber type grouping	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0012270	Decreased muscle glycogen content	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030228	Abnormal muscle fiber valosin-containing protein	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030103	Abnormal muscle fiber beta sarcoglycan	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030104	Abnormal muscle fiber gamma sarcoglycan	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0003554	Type 2 muscle fiber atrophy	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030090	Abnormal muscle fiber merosin expression	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030113	Abnormal muscle fiber dysferlin	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0003557	Increased variability in muscle fiber diameter	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030122	Reduced muscle fiber perlecan	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0010602	Type 2 muscle fiber predominance	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030119	Abnormal muscle fiber calpain-3	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0012240	Increased intramyocellular lipid droplets	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030123	Abnormal muscle fiber lamin A/C	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030105	Abnormal muscle fiber delta sarcoglycan	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0011807	Type 1 muscle fiber atrophy	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0020202	Abnormal Z disc morphology	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0025200	Muscle fiber actin filament accumulation	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030226	Abnormal muscle fiber myotilin	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030112	Abnormal muscle fiber alpha dystroglycan	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030096	Abnormal muscle fiber dystrophin expression	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030095	Reduced muscle collagen VI	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0003803	Type 1 muscle fiber predominance	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0009051	Increased muscle glycogen content	2	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030092	Reduced muscle fiber merosin	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030115	Reduced muscle fiber dysferlin	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0100306	Muscle fiber hyaline bodies	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030229	Accumulation of muscle fiber valosin-containing protein	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030106	Absent muscle fiber beta sarcoglycan	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030109	Absent muscle fiber gamma sarcoglycan	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030121	Reduced muscle fiber calpain-3	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030124	Reduced muscle fiber lamin A/C	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030232	Increased sarcoplasmic glycogen	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030111	Reduced muscle fiber delta sarcoglycan	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030091	Absent muscle fiber merosin	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0020203	Z-band streaming	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030114	Absent muscle fiber dysferlin	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0100300	Desmin bodies	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030099	Reduced muscle fiber alpha dystroglycan	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030098	Reduced muscle dystrophin expression	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0003798	Nemaline bodies	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030120	Absent muscle fiber calpain-3	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030231	Glycogen accumulation in muscle fiber lysosomes	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030110	Absent muscle fiber delta sarcoglycan	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0033008	Increased Z-disc width	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030227	Accumulation of muscle fiber myotilin	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030046	Hypoglycosylation of alpha-dystroglycan	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030097	Absent muscle dystrophin expression	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0100302	Muscle fiber tubuloreticular inclusions	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030102	Reduced muscle fiber alpha sarcoglycan	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030118	Reduced muscle fiber emerin	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030094	Reduced muscle fiber laminin beta 1	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030225	Accumulation of muscle fiber desmin	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0100301	Muscle fiber tubular inclusions	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030101	Absent muscle fiber alpha sarcoglycan	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030117	Absent muscle fiber emerin	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030107	Reduced muscle fiber beta sarcoglycan	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240
HP:0004303	HP:0030108	Reduced muscle fiber gamma sarcoglycan	3	GLI3 CL E G H	2737	175700	Greig cephalopolysyndactyly syndrome	175700	C0265306	OMIM	0	981	4319	165240