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:
Muscle weakness (HP:0001324)

Parent Node:
Progressive muscle weakness (HP:0003323)

Parent Node:
Proximal muscle weakness (HP:0003701)

..Starting node
..Progressive proximal muscle weakness (HP:0009073)

Term ID:

9073

Name:

Progressive proximal muscle weakness

Synonym:

Muscle weakness, progressive, proximal

Definition:

Lack of strength of the proximal muscles that becomes progressively more severe.

Comments:

Reference:

HP:0009073

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gowers sign (HP:0003391)

Late-onset proximal muscle weakness (HP:0003694)

Proximal muscle weakness in lower limbs (HP:0008994)

Proximal muscle weakness in upper limbs (HP:0008997)

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:0009073	HP:0009073	Progressive proximal muscle weakness	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040281 - Very frequent	90
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy	HP:0040283 - Occasional	304
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	65
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	442
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	478
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent	702
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040283 - Occasional	46
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040282 - Frequent	600
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040282 - Frequent	286
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.	286
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040283 - Occasional	75
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040283 - Occasional	745
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040281 - Very frequent	759
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040281 - Very frequent	65
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional	166
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent	103
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040282 - Frequent	27
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0009073	HP:0009073	Progressive proximal muscle weakness	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63

Genes (25) :ABHD5 ANO5 COL12A1 COL6A1 COL6A2 COL6A3 CRYAB DYSF GIPC1 LDB3 MLIP MYOT NEB NOTCH2NLC PLEC PNPLA2 PYGM TK2 TRAPPC11 TRNE TRNL1 TRNL2 TRNN TRNS1 VCP

Diseases (19) :ORPHA:98907 ORPHA:399096 ORPHA:610 ORPHA:399058 ORPHA:178400 ORPHA:98897 ORPHA:98912 OMIM:609452 OMIM:620138 ORPHA:98911 ORPHA:399103 ORPHA:254361 ORPHA:98908 ORPHA:368 ORPHA:254875 ORPHA:369847 ORPHA:2596 ORPHA:663 OMIM:167320

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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