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:
Abdominal wall defect (HP:0010866)

Grandparent Node:
Hernia (HP:0100790)

Parent Node:
Hernia of the abdominal wall (HP:0004299)

..Starting node
..Femoral hernia (HP:0100541)

Term ID:

100541

Name:

Femoral hernia

Synonym:

Crural hernia

Definition:

A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.

Comments:

Reference:

HP:0100541

Genes and Diseases:

Child Nodes:

Sister Nodes:

Incisional hernia (HP:0004872)

Inguinal hernia (HP:0000023)

Omphalocele (HP:0001539)

Umbilical hernia (HP:0001537)

Ventral hernia (HP:0002933)

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:0100541	HP:0100541	Femoral hernia	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent	165
HP:0100541	HP:0100541	Femoral hernia	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent	72
HP:0100541	HP:0100541	Femoral hernia	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0100541	HP:0100541	Femoral hernia	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0100541	HP:0100541	Femoral hernia	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0100541	HP:0100541	Femoral hernia	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional	164
HP:0100541	HP:0100541	Femoral hernia	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0100541	HP:0100541	Femoral hernia	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0100541	HP:0100541	Femoral hernia	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0100541	HP:0100541	Femoral hernia	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0100541	HP:0100541	Femoral hernia	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0100541	HP:0100541	Femoral hernia	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0100541	HP:0100541	Femoral hernia	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040282 - Frequent	166
HP:0100541	HP:0100541	Femoral hernia	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0100541	HP:0100541	Femoral hernia	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0100541	HP:0100541	Femoral hernia	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0100541	HP:0100541	Femoral hernia	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent	133
HP:0100541	HP:0100541	Femoral hernia	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98

Genes (18) :ADAMTS2 ADAMTSL2 ATP7A COL1A1 COL1A2 DIS3L2 DVL1 DVL3 EHMT1 FANCB FZD2 PTDSS1 SLC26A2 SLC2A10 SMAD4 TBX1 TRIP11 WNT5A

Diseases (13) :ORPHA:1901 ORPHA:198 ORPHA:1899 ORPHA:2849 ORPHA:3107 ORPHA:96147 ORPHA:3412 ORPHA:2658 ORPHA:93298 ORPHA:3342 ORPHA:2588 OMIM:188400 ORPHA:93299

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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