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:
Phenotypic abnormality (HP:0000118)

Parent Node:
Constitutional symptom (HP:0025142)

..Starting node
..Asthenia (HP:0025406)

Term ID:

25406

Name:

Asthenia

Synonym:

Lack of energy and strength; Prostration; Weakness

Definition:

A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.

Comments:

Reference:

HP:0025406

Genes and Diseases:

Child Nodes:

Sister Nodes:

Body odor (HP:0500001)

Chest tightness (HP:0031352)

Chills (HP:0025143)

Fatigue (HP:0012378)

Hot flashes (HP:0031217)

Impairment of activities of daily living (HP:0031058)

Night sweats (HP:0030166)

Pain (HP:0012531)

Shivering (HP:0025144)

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:0025406	HP:0025406	Asthenia	0	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked		72
HP:0025406	HP:0025406	Asthenia	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional	57
HP:0025406	HP:0025406	Asthenia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040282 - Frequent	136
HP:0025406	HP:0025406	Asthenia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent	136
HP:0025406	HP:0025406	Asthenia	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0025406	HP:0025406	Asthenia	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0025406	HP:0025406	Asthenia	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040281 - Very frequent	46
HP:0025406	HP:0025406	Asthenia	0	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3		2
HP:0025406	HP:0025406	Asthenia	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0025406	HP:0025406	Asthenia	0	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency		4

Genes (9) :ALAS2 DGUOK MAN2B1 MTHFD1 NSDHL PIGA PLEKHM1 PRORP SERPINA6

Diseases (10) :OMIM:300751 ORPHA:329314 ORPHA:309288 ORPHA:309282 OMIM:617780 ORPHA:251383 ORPHA:447 OMIM:618107 OMIM:619737 OMIM:611489

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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