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 connective tissue (HP:0003549)

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

Parent Node:
Hernia (HP:0100790)

..Starting node
..Congenital diaphragmatic hernia (HP:0000776)

Term ID:

776

Name:

Congenital diaphragmatic hernia

Synonym:

Diaphragmatic hernia

Definition:

The presence of a hernia of the diaphragm present at birth.

Comments:

Reference:

HP:0000776

Genes and Diseases:

Child Nodes:

........

Posterolateral diaphragmatic hernia (HP:0025193)

........

Morgagni diaphragmatic hernia (HP:0025194)

........

Central diaphragmatic hernia (HP:0025195)

Sister Nodes:

Genital hernia (HP:0100823)

Hernia of the abdominal wall (HP:0004299)

Hiatus hernia (HP:0002036)

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:0000776	HP:0000776	Congenital diaphragmatic hernia	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare	9
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	125
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	5
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional	83
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	165
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	6
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis	HP:0040283 - Occasional	2
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040283 - Occasional	27
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction	HP:0040282 - Frequent	493
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional	87
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	GATA6 CL E G H	2627	4174	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040281 - Very frequent	37
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	270
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional	270
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	11
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040283 - Occasional	33
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040282 - Frequent	25
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity	HP:0040283 - Occasional	145
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040283 - Occasional	167
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	LONP1 CL E G H	9361	9479	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040281 - Very frequent	8
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent	289
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	5
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional	183
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	3
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.	3
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040283 - Occasional	1
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent	37
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	HP:0040283 - Occasional	37
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040282 - Frequent	9
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	.	9
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	HP:0040284 - Very rare	7
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.	1
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040284 - Very rare
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	HP:0040284 - Very rare	1
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040282 - Frequent	71
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.	2
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional	2
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040282 - Frequent	4
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040281 - Very frequent	177
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	ZFPM2 CL E G H	23414	16700	ORPHA:2140	Congenital diaphragmatic hernia	HP:0040281 - Very frequent	31
HP:0000776	HP:0000776	Congenital diaphragmatic hernia	0	ZFPM2 CL E G H	23414	16700	OMIM:610187	DIAPHRAGMATIC HERNIA 3; DIH3		31
HP:0000776	HP:0025193	Posterolateral diaphragmatic hernia	1	CL E G H
HP:0000776	HP:0009112	Aplasia of the left hemidiaphragm	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0000776	HP:0032592	Aplasia of the right hemidiaphragm	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000776	HP:0009112	Aplasia of the left hemidiaphragm	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0000776	HP:0009112	Aplasia of the left hemidiaphragm	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0000776	HP:0009112	Aplasia of the left hemidiaphragm	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0000776	HP:0025195	Central diaphragmatic hernia	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0000776	HP:0025194	Morgagni diaphragmatic hernia	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0000776	HP:0025195	Central diaphragmatic hernia	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0000776	HP:0009112	Aplasia of the left hemidiaphragm	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0000776	HP:0032592	Aplasia of the right hemidiaphragm	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177

Genes (93) :ABL1 ADAT3 ALDH1A2 ALG9 ANAPC7 AR ARID1B B3GAT3 BRD4 CD96 CDC42BPB CHRNG CHST3 CHUK COX7B CPLX1 CTBP1 DACT1 DHCR7 DIS3L2 DLL3 EFEMP2 EFNB1 FBLN5 FLNA GATA4 GATA6 GLI3 GPC3 GPC4 HCCS HDAC4 HDAC8 HES7 HOXD13 KCNA1 KDM3B KDM6A KIAA0586 KIF7 KMT2D LETM1 LFNG LONP1 LRP2 MAF MAFB MAMLD1 MAP3K7 MCTP2 MESP2 MID1 MN1 MTHFR MYRF NDUFAF5 NDUFB11 NELFA NIPBL NR2F2 NSD2 PBX1 PCNA PIGG PIGN POGZ PORCN PPM1D RAD21 RARB RIPPLY2 RLIM RPS26 RPS28 RSPO2 SEC31A SF3B4 SH2B1 SIN3A SLC2A10 SMARCB1 SMC1A SMC3 STAG2 STRA6 TRAIP TRRAP VANGL2 WLS WNT3 WNT4 WT1 ZFPM2

Diseases (87) :OMIM:617602 ORPHA:363528 OMIM:620025 OMIM:263210 OMIM:619699 ORPHA:95706 OMIM:135900 OMIM:245600 ORPHA:199 ORPHA:1308 OMIM:619841 OMIM:265000 OMIM:613630 ORPHA:2556 OMIM:309801 ORPHA:280 ORPHA:63260 ORPHA:818 OMIM:267000 ORPHA:2311 OMIM:614437 ORPHA:1520 OMIM:304110 OMIM:219100 ORPHA:99811 ORPHA:251071 ORPHA:2140 OMIM:600001 ORPHA:2255 ORPHA:36 ORPHA:380 ORPHA:373 OMIM:312870 ORPHA:1001 ORPHA:887 ORPHA:972 OMIM:618846 ORPHA:2322 OMIM:616546 ORPHA:2143 OMIM:222448 ORPHA:1272 OMIM:166300 OMIM:157800 ORPHA:1596 ORPHA:2745 OMIM:618774 ORPHA:563609 OMIM:618280 OMIM:618238 OMIM:122470 OMIM:618901 OMIM:617641 ORPHA:438134 ORPHA:2059 OMIM:614080 ORPHA:468678 OMIM:616364 ORPHA:2092 OMIM:305600 OMIM:617450 ORPHA:2470 OMIM:615524 OMIM:300978 OMIM:613309 OMIM:606164 OMIM:618022 OMIM:618651 OMIM:154400 ORPHA:261197 ORPHA:94065 OMIM:613406 OMIM:208050 OMIM:614608 OMIM:301044 OMIM:301022 OMIM:601186 OMIM:616777 OMIM:618454 OMIM:619648 OMIM:273395 OMIM:611812 ORPHA:139466 OMIM:194080 OMIM:608978 ORPHA:3097 OMIM:610187

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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