Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 abdominal wall (HP:0004298)

Grandparent Node:
Abnormality of the musculature (HP:0003011)

Parent Node:
Abnormal morphology of the abdominal musculature (HP:0010991)

..Starting node
..Diastasis recti (HP:0001540)

Term ID:

1540

Name:

Diastasis recti

Synonym:

Gap between large left and right abdominal muscles

Definition:

A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).

Comments:

Reference:

HP:0001540

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abdominal wall muscle weakness (HP:0009023)

Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)

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:0001540	HP:0001540	Diastasis recti	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001540	HP:0001540	Diastasis recti	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0001540	HP:0001540	Diastasis recti	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0001540	HP:0001540	Diastasis recti	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0001540	HP:0001540	Diastasis recti	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	3
HP:0001540	HP:0001540	Diastasis recti	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0001540	HP:0001540	Diastasis recti	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	9
HP:0001540	HP:0001540	Diastasis recti	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0001540	HP:0001540	Diastasis recti	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent	1
HP:0001540	HP:0001540	Diastasis recti	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0001540	HP:0001540	Diastasis recti	0	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:0001540	HP:0001540	Diastasis recti	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.	3
HP:0001540	HP:0001540	Diastasis recti	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0001540	HP:0001540	Diastasis recti	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0001540	HP:0001540	Diastasis recti	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0001540	HP:0001540	Diastasis recti	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0001540	HP:0001540	Diastasis recti	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001540	HP:0001540	Diastasis recti	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001540	HP:0001540	Diastasis recti	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	4
HP:0001540	HP:0001540	Diastasis recti	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0001540	HP:0001540	Diastasis recti	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0001540	HP:0001540	Diastasis recti	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	9
HP:0001540	HP:0001540	Diastasis recti	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0001540	HP:0001540	Diastasis recti	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0001540	HP:0001540	Diastasis recti	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	21
HP:0001540	HP:0001540	Diastasis recti	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent	1
HP:0001540	HP:0001540	Diastasis recti	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0001540	HP:0001540	Diastasis recti	0	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:0001540	HP:0001540	Diastasis recti	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0001540	HP:0001540	Diastasis recti	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0001540	HP:0001540	Diastasis recti	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0001540	HP:0001540	Diastasis recti	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0001540	HP:0001540	Diastasis recti	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0001540	HP:0001540	Diastasis recti	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0001540	HP:0001540	Diastasis recti	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent
HP:0001540	HP:0001540	Diastasis recti	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0001540	HP:0001540	Diastasis recti	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001540	HP:0001540	Diastasis recti	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0001540	HP:0001540	Diastasis recti	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0001540	HP:0001540	Diastasis recti	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13

Genes (28) :B3GLCT CDKN1C CHAMP1 CHST14 COLEC10 COLEC11 DLK1 ELMO2 EZH2 FOXF1 GNPTAB GPC3 GPC4 H19 H19-ICR IGF2 KCNQ1 KCNQ1OT1 MASP1 MEG3 MTOR PIGQ PORCN PPP2R3C RTL1 SHPK SOX6 TBCK

Diseases (26) :OMIM:261540 OMIM:130650 OMIM:616579 OMIM:601776 ORPHA:293843 OMIM:248340 OMIM:265050 ORPHA:254534 ORPHA:254528 ORPHA:96334 OMIM:606893 OMIM:277590 OMIM:265380 OMIM:252500 ORPHA:576 OMIM:312870 ORPHA:231140 ORPHA:457485 OMIM:616638 OMIM:618548 ORPHA:2092 OMIM:305600 OMIM:618419 ORPHA:440713 OMIM:618971 ORPHA:488632

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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