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 the musculature (HP:0003011)

Parent Node:
Abnormality of the diaphragm (HP:0000775)

..Starting node
..Denervation of the diaphragm (HP:0009109)

Term ID:

9109

Name:

Denervation of the diaphragm

Synonym:

Definition:

Interruption of the innervation of the diaphragm.

Comments:

Reference:

HP:0009109

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal hemidiaphragm morphology (HP:0040045)

Aplasia/Hypoplasia of the diaphragm (HP:0010315)

Congenital diaphragmatic hernia (HP:0000776)

Diaphragmatic eventration (HP:0009110)

Diaphragmatic weakness (HP:0009113)

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:0009109	HP:0009109	Denervation of the diaphragm	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0009109	HP:0009109	Denervation of the diaphragm	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209

Genes (2) :GDAP1 IGHMBP2

Diseases (2) :ORPHA:99948 OMIM:604320

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