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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Congenital Abnormalities (D000013)
Parent Node: Hernia, Diaphragmatic (D006548)
..Starting node ..Hernias, Diaphragmatic, Congenital (D065630)
Child Nodes:
........Donnai-Barrow syndrome (C536390)
........Epidermolysis Bullosa With Diaphragmatic Hernia (C565588)
........Hernia, Anterior Diaphragmatic (C564413)
........Kennerknecht Sorgo Oberhoffer syndrome (C537018)
........Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia (C538340)
........Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
........Saal Bulas syndrome (C537193)
Sister Nodes:
..Diaphragm, Complete Agenesis Of (C564189)
..Diaphragmatic Hernia 1 (C564188)
..Diaphragmatic Hernia 2 (C565629)
..Diaphragmatic Hernia 3 (C565710)
..Fryns syndrome (C538070)
..Hernia, Diaphragmatic, Traumatic (D006549)
..Hernia, Hiatal (D006551) 3
..Hernias, Diaphragmatic, Congenital (D065630) 7
..Jarcho-Levin syndrome (C537565) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5140

Name:

Hernias, Diaphragmatic, Congenital

Definition:

Protrusion of abdominal structures into the THORAX as a result of embryologic defects in the DIAPHRAGM often present in the neonatal period. It can be isolated, syndromic, nonsyndromic or be a part of chromosome abnormality. Associated pulmonary hypoplasia and PULMONARY HYPERTENSION can further complicate stabilization and surgical intervention.

Alternative IDs:

OMIM:142340

ParentIDs:

MESH:D000013|MESH:D006548

TreeNumbers:

C16.131.433 |C23.300.707.500.116

Synonyms:

Slim Mappings:

Congenital abnormality|Pathology (anatomical condition)

Reference:

MedGen: D065630
MeSH: D065630
OMIM: 142340;

Genes: DIH1;

Phenotypes

1	HP:0000776	Congenital diaphragmatic hernia
2	HP:0001426	Multifactorial inheritance

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001927.3(DES):c.638C>T (p.Ala213Val)	1674	DES	Benign;Uncertain significance	41272699	RCV000056805; RCV000037245; RCV000203295;	N	Gene:1732,MedGen:C1840644,OMIM:142340; MedGen:CN169374; MedGen:CN221809	2	220284876	220284876	NM_001927.3:c.638C>T	NP_001918.3:p.Ala213Val	NC_000002.11:g.220284876C>T	HGMD:CM117560	C1840644 142340 Congenital diaphragmatic hernia; CN221809 not provided; CN169374 not specified
NM_000138.4(FBN1):c.4970_4971insA (p.Cys1658Leufs)	2200	FBN1	Likely pathogenic	864309713	RCV000203287;	N	Gene:1732,MedGen:C1840644,OMIM:142340	15	48756190	48756191	NM_000138.4:c.4970_4971insA	NP_000129.3:p.Cys1658Leufs	NC_000015.9:g.48756190_48756191insT	-	C1840644 142340 Congenital diaphragmatic hernia
NM_144966.5(FREM1):c.1394G>C (p.Gly465Ala)	158326	FREM1	Uncertain significance	41298151	RCV000203291;	N	Gene:1732,MedGen:C1840644,OMIM:142340	9	14842658	14842658	NM_144966.5:c.1394G>C	NP_659403.4:p.Gly465Ala	NC_000009.11:g.14842658C>G	-	C1840644 142340 Congenital diaphragmatic hernia
NM_001127500.2(MET):c.3029C>T (p.Thr1010Ile)	4233	MET	Benign;Uncertain significance	56391007	RCV000123120; RCV000034529; RCV000121340; RCV000203290; RCV000163261;	N	Gene:1732,MedGen:C1840644,OMIM:142340; MedGen:C0007134,OMIM:605074,ORPHA:217071,SNOMED CT:41607009; MedGen:C0027672,SNOMED CT:699346009; MedGen:CN169374; MedGen:CN221809	7	116411990	116411990	NM_001127500.2:c.3029C>T	NP_001120972.1:p.Thr1010Ile		HGMD:CM118113	C1840644 142340 Congenital diaphragmatic hernia; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C0007134 605074 Renal cell carcinoma, papillary, 1
NM_181457.3(PAX3):c.944C>A (p.Thr315Lys)	5077	PAX3	Benign;Uncertain significance	2234675	RCV000213796; RCV000203286;	N	Gene:1732,MedGen:C1840644,OMIM:142340; MedGen:CN169374	2	223085955	223085955	NM_181457.3:c.944C>A	NP_852122.1:p.Thr315Lys		-	C1840644 142340 Congenital diaphragmatic hernia; CN169374 not specified