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:
Abnormal respiratory system physiology (HP:0002795)

Parent Node:
Abnormal thorax morphology (HP:0000765)

Parent Node:
Muscle weakness (HP:0001324)

Parent Node:
Respiratory insufficiency (HP:0002093)

..Starting node
..Intercostal muscle weakness (HP:0004878)

Term ID:

4878

Name:

Intercostal muscle weakness

Synonym:

Dependence on diaphragmatic breathing; Muscle weakness between ribs

Definition:

Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.

Comments:

Reference:

HP:0004878

Genes and Diseases:

Child Nodes:

Sister Nodes:

Neonatal respiratory distress (HP:0002643)

obsolete Restrictive deficit on pulmonary function testing (HP:0002111)

Respiratory arrest (HP:0005943)

Respiratory failure (HP:0002878)

Respiratory failure requiring assisted ventilation (HP:0004887)

Respiratory insufficiency due to defective ciliary clearance (HP:0200073)

Respiratory insufficiency due to muscle weakness (HP:0002747)

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:0004878	HP:0004878	Intercostal muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0004878	HP:0004878	Intercostal muscle weakness	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0004878	HP:0004878	Intercostal muscle weakness	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0004878	HP:0004878	Intercostal muscle weakness	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional	411
HP:0004878	HP:0004878	Intercostal muscle weakness	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0004878	HP:0004878	Intercostal muscle weakness	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0004878	HP:0004878	Intercostal muscle weakness	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0004878	HP:0004878	Intercostal muscle weakness	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0004878	HP:0004878	Intercostal muscle weakness	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0004878	HP:0004878	Intercostal muscle weakness	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0004878	HP:0004878	Intercostal muscle weakness	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32

Genes (11) :ACTA1 HACD1 ITGA7 LAMA2 MAP3K20 MYL2 SELENON TPM2 TPM3 TRPV4 VRK1

Diseases (4) :ORPHA:2020 ORPHA:258 OMIM:606071 OMIM:607596

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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