Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Muscle fiber inclusion bodies (HP:0100299)

Parent Node:
Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)

..Starting node
..Nemaline bodies (HP:0003798)

Term ID:

3798

Name:

Nemaline bodies

Synonym:

Nemaline rods

Definition:

Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.

Comments:

Reference:

HP:0003798

Genes and Diseases:

Child Nodes:

Sister Nodes:

Desmin bodies (HP:0100300)

Muscle fiber hyaline bodies (HP:0100306)

Muscle fiber tubular inclusions (HP:0100301)

Muscle fiber tubuloreticular inclusions (HP:0100302)

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:0003798	HP:0003798	Nemaline bodies	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	96
HP:0003798	HP:0003798	Nemaline bodies	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	96
HP:0003798	HP:0003798	Nemaline bodies	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0003798	HP:0003798	Nemaline bodies	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0003798	HP:0003798	Nemaline bodies	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0003798	HP:0003798	Nemaline bodies	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0003798	HP:0003798	Nemaline bodies	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0003798	HP:0003798	Nemaline bodies	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0003798	HP:0003798	Nemaline bodies	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	80
HP:0003798	HP:0003798	Nemaline bodies	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.	80
HP:0003798	HP:0003798	Nemaline bodies	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0003798	HP:0003798	Nemaline bodies	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0003798	HP:0003798	Nemaline bodies	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	13
HP:0003798	HP:0003798	Nemaline bodies	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	13
HP:0003798	HP:0003798	Nemaline bodies	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0003798	HP:0003798	Nemaline bodies	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0003798	HP:0003798	Nemaline bodies	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0003798	HP:0003798	Nemaline bodies	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0003798	HP:0003798	Nemaline bodies	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0003798	HP:0003798	Nemaline bodies	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0003798	HP:0003798	Nemaline bodies	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	217
HP:0003798	HP:0003798	Nemaline bodies	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	.	217
HP:0003798	HP:0003798	Nemaline bodies	0	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25	.	9
HP:0003798	HP:0003798	Nemaline bodies	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6		745
HP:0003798	HP:0003798	Nemaline bodies	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	745
HP:0003798	HP:0003798	Nemaline bodies	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent	745
HP:0003798	HP:0003798	Nemaline bodies	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	745
HP:0003798	HP:0003798	Nemaline bodies	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0003798	HP:0003798	Nemaline bodies	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0003798	HP:0003798	Nemaline bodies	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0003798	HP:0003798	Nemaline bodies	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	HP:0040283 - Occasional	118
HP:0003798	HP:0003798	Nemaline bodies	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0003798	HP:0003798	Nemaline bodies	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0003798	HP:0003798	Nemaline bodies	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040283 - Occasional	1200
HP:0003798	HP:0003798	Nemaline bodies	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0003798	HP:0003798	Nemaline bodies	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0003798	HP:0003798	Nemaline bodies	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5		37
HP:0003798	HP:0003798	Nemaline bodies	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	54
HP:0003798	HP:0003798	Nemaline bodies	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0003798	HP:0003798	Nemaline bodies	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0003798	HP:0003798	Nemaline bodies	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040281 - Very frequent	108
HP:0003798	HP:0003798	Nemaline bodies	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent	108
HP:0003798	HP:0003798	Nemaline bodies	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108

Genes (17) :ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 KY LMOD3 MYO18B MYPN NDUFB3 NEB NEFL PYROXD1 RYR1 TNNT1 TPM2 TPM3

Diseases (25) :ORPHA:171439 ORPHA:171433 OMIM:161800 ORPHA:171430 ORPHA:171436 ORPHA:97240 OMIM:610687 OMIM:609273 OMIM:615348 OMIM:617114 OMIM:616549 OMIM:617336 OMIM:618246 OMIM:619334 ORPHA:399103 OMIM:256030 OMIM:607684 OMIM:617258 OMIM:117000 ORPHA:597 ORPHA:98905 OMIM:255320 OMIM:605355 OMIM:609285 OMIM:609284

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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