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:
Abnormal central motor function (HP:0011442)

Parent Node:
Diaphragmatic weakness (HP:0009113)

Parent Node:
Paralysis (HP:0003470)

..Starting node
..Diaphragmatic paralysis (HP:0006597)

Term ID:

6597

Name:

Diaphragmatic paralysis

Synonym:

Diaphragmatic paralysis; Paralysed diaphragm; Paralyzed diaphragm

Definition:

The presence of a paralyzed diaphragm.

Comments:

Reference:

HP:0006597

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial paralysis (HP:0007209)

Periodic paralysis (HP:0003768)

Pseudobulbar paralysis (HP:0007024)

Respiratory paralysis (HP:0002203)

Vocal cord paralysis (HP:0001605)

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:0006597	HP:0006597	Diaphragmatic paralysis	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0006597	HP:0006597	Diaphragmatic paralysis	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.	407
HP:0006597	HP:0006597	Diaphragmatic paralysis	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0006597	HP:0006597	Diaphragmatic paralysis	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0006597	HP:0006597	Diaphragmatic paralysis	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040284 - Very rare	8
HP:0006597	HP:0006597	Diaphragmatic paralysis	0	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0006597	HP:0006597	Diaphragmatic paralysis	0	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency	HP:0040282 - Frequent	28

Genes (7) :BAG3 GAA IGHMBP2 MEGF10 MORC2 REEP1 TPI1

Diseases (7) :OMIM:612954 OMIM:232300 OMIM:604320 OMIM:614399 ORPHA:466768 OMIM:620011 ORPHA:868

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