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 lower limb (HP:0002814)

Grandparent Node:
Abnormality of the musculature of the limbs (HP:0009127)

Parent Node:
Abnormality of the musculature of the lower limbs (HP:0001437)

..Starting node
..Abnormality of the musculature of the thigh (HP:0001441)

Term ID:

1441

Name:

Abnormality of the musculature of the thigh

Synonym:

Abnormal thigh muscles

Definition:

Comments:

Reference:

HP:0001441

Genes and Diseases:

Child Nodes:

........

Proximal lower limb amyotrophy (HP:0008956)

................... HP:0009050 Quadriceps muscle atrophy

........

Aplasia/Hypoplasia of the musculature of the thigh (HP:0009786)

................... HP:0009787 Aplasia/Hypoplasia of the quadriceps

Sister Nodes:

Abnormality of the calf musculature (HP:0001430)

Abnormality of the foot musculature (HP:0001436)

Leg muscle stiffness (HP:0008969)

Lower limb hypertonia (HP:0006895)

Muscle hypertrophy of the lower extremities (HP:0008968)

Proximal muscle weakness in lower limbs (HP:0008994)

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:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3		304
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31		87
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6		223
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0001441	HP:0001441	Abnormality of the musculature of the thigh	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3		304
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001441	HP:0009786	Aplasia/Hypoplasia of the musculature of the thigh	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040282 - Frequent	87
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	HP:0040282 - Frequent	223
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0001441	HP:0008956	Proximal lower limb amyotrophy	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0001441	HP:0009050	Quadriceps muscle atrophy	2	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0001441	HP:0009050	Quadriceps muscle atrophy	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0001441	HP:0009050	Quadriceps muscle atrophy	2	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3	.	304
HP:0001441	HP:0009787	Aplasia/Hypoplasia of the quadriceps	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0001441	HP:0009050	Quadriceps muscle atrophy	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0001441	HP:0009050	Quadriceps muscle atrophy	2	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001441	HP:0009788	Quadriceps aplasia	3	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0001441	HP:0040191	Rectus femoris muscle atrophy	3	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200

Genes (18) :ADSS1 ANO5 DYNC1H1 EMD FHL1 HNRNPDL LMNA LMX1B MYH7 NEFL REEP1 RYR1 SGCD SMN1 SMN2 SYNE1 SYNE2 TMEM43

Diseases (17) :ORPHA:482601 ORPHA:206549 OMIM:613319 OMIM:158600 ORPHA:98863 OMIM:609115 ORPHA:98853 ORPHA:98855 ORPHA:98856 OMIM:161200 ORPHA:437572 ORPHA:101085 ORPHA:101011 ORPHA:98905 ORPHA:219 OMIM:253400 OMIM:271150

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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