Human Phenotype Ontology

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:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		68
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome		3
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome		9
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous		3
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia		233
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		4
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		9
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis		55
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome		21
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome		166
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0010991	HP:0010991	Abnormal morphology of the abdominal musculature	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040282 - Frequent	23
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0010991	HP:0001540	Diastasis recti	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	85
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional	83
HP:0010991	HP:0001540	Diastasis recti	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0010991	HP:0001540	Diastasis recti	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0010991	HP:0001540	Diastasis recti	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0010991	HP:0001540	Diastasis recti	1	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	3
HP:0010991	HP:0001540	Diastasis recti	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0010991	HP:0001540	Diastasis recti	1	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	9
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0010991	HP:0001540	Diastasis recti	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0010991	HP:0001540	Diastasis recti	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent	1
HP:0010991	HP:0001540	Diastasis recti	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0010991	HP:0001540	Diastasis recti	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0010991	HP:0001540	Diastasis recti	1	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.	3
HP:0010991	HP:0001540	Diastasis recti	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040282 - Frequent	233
HP:0010991	HP:0001540	Diastasis recti	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010991	HP:0001540	Diastasis recti	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0010991	HP:0001540	Diastasis recti	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0010991	HP:0001540	Diastasis recti	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0010991	HP:0001540	Diastasis recti	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0010991	HP:0001540	Diastasis recti	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	4
HP:0010991	HP:0001540	Diastasis recti	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0010991	HP:0001540	Diastasis recti	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0010991	HP:0001540	Diastasis recti	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	9
HP:0010991	HP:0001540	Diastasis recti	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0010991	HP:0001540	Diastasis recti	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis		55
HP:0010991	HP:0001540	Diastasis recti	1	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	21
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent	78
HP:0010991	HP:0001540	Diastasis recti	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent	1
HP:0010991	HP:0001540	Diastasis recti	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0010991	HP:0001540	Diastasis recti	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0010991	HP:0001540	Diastasis recti	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0010991	HP:0001540	Diastasis recti	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0010991	HP:0001540	Diastasis recti	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0010991	HP:0001540	Diastasis recti	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0010991	HP:0001540	Diastasis recti	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0010991	HP:0001540	Diastasis recti	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0010991	HP:0001540	Diastasis recti	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent
HP:0010991	HP:0001540	Diastasis recti	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0010991	HP:0001540	Diastasis recti	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0010991	HP:0001540	Diastasis recti	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0010991	HP:0001540	Diastasis recti	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0010991	HP:0001540	Diastasis recti	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0010991	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	14
HP:0010991	HP:0005199	Aplasia of the abdominal wall musculature	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0010991	HP:0005199	Aplasia of the abdominal wall musculature	2	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0010991	HP:0005243	Partial abdominal muscle agenesis	2	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0010991	HP:0005247	Hypoplasia of the abdominal wall musculature	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0010991	HP:0005247	Hypoplasia of the abdominal wall musculature	2	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis	HP:0040281 - Very frequent	55
HP:0010991	HP:0005247	Hypoplasia of the abdominal wall musculature	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome