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

Grandparent Node:
Abnormality of muscle size (HP:0030236)

Parent Node:
Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)

..Starting node
..Hypoplasia of the musculature (HP:0009004)

Term ID:

9004

Name:

Hypoplasia of the musculature

Synonym:

Muscle hypoplasia; Poorly developed skeletal musculature; Underdeveloped muscle; Underdeveloped muscles

Definition:

Underdevelopment of the musculature.

Comments:

Reference:

HP:0009004

Genes and Diseases:

Child Nodes:

........

Shoulder muscle hypoplasia (HP:0008952)

................... HP:0030241 Hypoplasia of deltoid muscle

........

Calf muscle hypoplasia (HP:0008962)

........

Neck muscle hypoplasia (HP:0008984)

........

Pectoralis hypoplasia (HP:0008998)

........

Upper limb muscle hypoplasia (HP:0009016)

................... HP:0030239 Hypoplasia of the upper arm musculature

Sister Nodes:

Aplasia of the musculature (HP:0100854)

Aplasia/Hypoplasia involving the musculature of the extremities (HP:0009128)

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:0009004	HP:0009004	Hypoplasia of the musculature	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1	.	45
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent	580
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional	580
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0009004	HP:0009004	Hypoplasia of the musculature	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0009004	HP:0008984	Neck muscle hypoplasia	1	CL E G H
HP:0009004	HP:0008962	Calf muscle hypoplasia	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040283 - Occasional	148
HP:0009004	HP:0008962	Calf muscle hypoplasia	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0009004	HP:0008952	Shoulder muscle hypoplasia	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0009004	HP:0008952	Shoulder muscle hypoplasia	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0009004	HP:0008998	Pectoralis hypoplasia	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0009004	HP:0008962	Calf muscle hypoplasia	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0009004	HP:0008952	Shoulder muscle hypoplasia	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0009004	HP:0008998	Pectoralis hypoplasia	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0009004	HP:0009016	Upper limb muscle hypoplasia	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0009004	HP:0008952	Shoulder muscle hypoplasia	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0009004	HP:0030239	Hypoplasia of the upper arm musculature	2	CL E G H
HP:0009004	HP:0030241	Hypoplasia of deltoid muscle	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.	86
HP:0009004	HP:0100855	Triceps hypoplasia	3	CL E G H
HP:0009004	HP:0009007	Biceps hypoplasia	3	CL E G H

Genes (21) :ACTA1 ALG9 ATP6V0A2 CAV3 COLEC11 FBN2 FLNA GLE1 HACD1 HBB ITGA7 MAP3K20 MAP3K7 MYL2 MYMK PMP22 RBM8A SALL4 SELENON TPM2 TPM3

Diseases (16) :ORPHA:2020 ORPHA:79328 OMIM:278250 ORPHA:488650 OMIM:265050 OMIM:121050 OMIM:305620 ORPHA:1826 OMIM:253310 ORPHA:231214 ORPHA:231226 OMIM:254940 ORPHA:90658 OMIM:274000 OMIM:607323 OMIM:147750

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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