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
..Diaphragmatic eventration (HP:0009110)

Term ID:

9110

Name:

Diaphragmatic eventration

Synonym:

Eventration of the diaphragm

Definition:

A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.

Comments:

Reference:

HP:0009110

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal hemidiaphragm morphology (HP:0040045)

Aplasia/Hypoplasia of the diaphragm (HP:0010315)

Congenital diaphragmatic hernia (HP:0000776)

Denervation of the diaphragm (HP:0009109)

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:0009110	HP:0009110	Diaphragmatic eventration	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0009110	HP:0009110	Diaphragmatic eventration	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0009110	HP:0009110	Diaphragmatic eventration	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0009110	HP:0009110	Diaphragmatic eventration	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0009110	HP:0009110	Diaphragmatic eventration	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare	25
HP:0009110	HP:0009110	Diaphragmatic eventration	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009110	HP:0009110	Diaphragmatic eventration	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0009110	HP:0009110	Diaphragmatic eventration	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0009110	HP:0009110	Diaphragmatic eventration	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0009110	HP:0009110	Diaphragmatic eventration	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0009110	HP:0009110	Diaphragmatic eventration	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0009110	HP:0009110	Diaphragmatic eventration	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0009110	HP:0009110	Diaphragmatic eventration	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0009110	HP:0009110	Diaphragmatic eventration	0	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0009110	HP:0009110	Diaphragmatic eventration	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0009110	HP:0009110	Diaphragmatic eventration	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0009110	HP:0009110	Diaphragmatic eventration	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0009110	HP:0009110	Diaphragmatic eventration	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (18) :ALDH1A2 ARID2 ASNS CHRNG DNAJC19 GNB2 IGHMBP2 LRP2 MEGF10 MEGF8 MTM1 MYOD1 PLOD3 REEP1 STRA6 TRIP4 WT1 ZNF699

Diseases (18) :OMIM:620025 OMIM:617808 OMIM:615574 OMIM:265000 ORPHA:66634 OMIM:619503 OMIM:604320 OMIM:222448 OMIM:614399 OMIM:614976 OMIM:310400 OMIM:618975 OMIM:612394 OMIM:620011 OMIM:601186 OMIM:616866 OMIM:608978 OMIM:619488

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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