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 abdominal wall (HP:0004298)

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

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

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

Term ID:

10318

Name:

Aplasia/Hypoplasia of the abdominal wall musculature

Synonym:

Absent/small abdominal wall muscles; Absent/underdeveloped abdominal wall muscles

Definition:

Absence or underdevelopment of the abdominal musculature.

Comments:

Reference:

HP:0010318

Genes and Diseases:

Child Nodes:

........

Aplasia of the abdominal wall musculature (HP:0005199)

........

Partial abdominal muscle agenesis (HP:0005243)

........

Hypoplasia of the abdominal wall musculature (HP:0005247)

Sister Nodes:

Abdominal wall muscle weakness (HP:0009023)

Diastasis recti (HP:0001540)

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:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040282 - Frequent	23
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	85
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional	83
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome		4
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome		4
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2		9
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040282 - Frequent	233
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis		55
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent	78
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0010318	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	14
HP:0010318	HP:0005199	Aplasia of the abdominal wall musculature	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0010318	HP:0005199	Aplasia of the abdominal wall musculature	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040281 - Very frequent	4
HP:0010318	HP:0005243	Partial abdominal muscle agenesis	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.	9
HP:0010318	HP:0005247	Hypoplasia of the abdominal wall musculature	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0010318	HP:0005247	Hypoplasia of the abdominal wall musculature	1	MANBA CL E G H	4126	6831	ORPHA:118	Beta-mannosidosis	HP:0040281 - Very frequent	55
HP:0010318	HP:0005247	Hypoplasia of the abdominal wall musculature	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome

Genes (36) :ACTG2 ATP7A BRAF CANT1 CBL CD96 CHRM3 CHRNG COL3A1 COLEC11 CSGALNACT1 DIS3L2 FBN1 FLNB GPC3 GPC4 KRAS LZTR1 MANBA MCOLN1 MRAS MYH3 NRAS PTPN11 RAF1 RASA2 RIT1 RMRP RRAS RRAS2 SKI SLC25A24 SOS1 SOS2 SPRED2 XYLT1

Diseases (19) :ORPHA:2604 ORPHA:565 ORPHA:500 ORPHA:1425 ORPHA:648 ORPHA:1308 ORPHA:2970 OMIM:100100 ORPHA:2990 ORPHA:286 OMIM:265050 OMIM:267000 ORPHA:2462 ORPHA:1263 ORPHA:373 ORPHA:118 ORPHA:578 ORPHA:175 OMIM:612289

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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