Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

..Starting node
..Abnormal sarcomere morphology (HP:0020201)

Term ID:

20201

Name:

Abnormal sarcomere morphology

Synonym:

Definition:

Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs.

Comments:

Reference:

HP:0020201

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0020201	HP:0020201	Abnormal sarcomere morphology	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0020201	HP:0020201	Abnormal sarcomere morphology	0	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0020201	HP:0020201	Abnormal sarcomere morphology	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0020201	HP:0020201	Abnormal sarcomere morphology	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0020201	HP:0020201	Abnormal sarcomere morphology	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0020201	HP:0020201	Abnormal sarcomere morphology	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0020201	HP:0020201	Abnormal sarcomere morphology	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0020201	HP:0020201	Abnormal sarcomere morphology	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0020201	HP:0020201	Abnormal sarcomere morphology	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy		1200
HP:0020201	HP:0020201	Abnormal sarcomere morphology	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0020201	HP:0020201	Abnormal sarcomere morphology	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0020201	HP:0020201	Abnormal sarcomere morphology	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0020201	HP:0020201	Abnormal sarcomere morphology	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0020201	HP:0020201	Abnormal sarcomere morphology	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0020201	HP:0031237	Internally nucleated skeletal muscle fibers	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0020201	HP:0020202	Abnormal Z disc morphology	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0020201	HP:0031237	Internally nucleated skeletal muscle fibers	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0020201	HP:0020202	Abnormal Z disc morphology	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0020201	HP:0031237	Internally nucleated skeletal muscle fibers	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0020201	HP:0020202	Abnormal Z disc morphology	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0020201	HP:0020202	Abnormal Z disc morphology	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0020201	HP:0031237	Internally nucleated skeletal muscle fibers	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0020201	HP:0020202	Abnormal Z disc morphology	1	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0020201	HP:0031237	Internally nucleated skeletal muscle fibers	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0020201	HP:0031237	Internally nucleated skeletal muscle fibers	1	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional	1200
HP:0020201	HP:0031237	Internally nucleated skeletal muscle fibers	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0020201	HP:0020202	Abnormal Z disc morphology	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0020201	HP:0031237	Internally nucleated skeletal muscle fibers	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0020201	HP:0020202	Abnormal Z disc morphology	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0020201	HP:0031237	Internally nucleated skeletal muscle fibers	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0020201	HP:0020202	Abnormal Z disc morphology	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0020201	HP:0020203	Z-band streaming	2	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0020201	HP:0020203	Z-band streaming	2	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0020201	HP:0020203	Z-band streaming	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0020201	HP:0033008	Increased Z-disc width	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0020201	HP:0033008	Increased Z-disc width	2	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0020201	HP:0020203	Z-band streaming	2	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0020201	HP:0020203	Z-band streaming	2	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0020201	HP:0020203	Z-band streaming	2	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1

Genes (12) :ACTN2 ANO5 FXR1 KY LAMA2 LMOD2 NOTCH2NLC RYR1 SQSTM1 TNNT1 TTN UNC45B

Diseases (14) :OMIM:618654 OMIM:618655 ORPHA:206549 OMIM:618823 OMIM:617114 OMIM:618138 OMIM:619897 OMIM:619473 ORPHA:324581 ORPHA:98905 OMIM:617158 OMIM:605355 ORPHA:178464 OMIM:619178

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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