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:
Abnormal peripheral nervous system synaptic transmission (HP:0030191)

Parent Node:
Response to drugs acting on neuromuscular transmission (HP:0030201)

..Starting node
..Favorable response of weakness to acetylcholine esterase inhibitors (HP:0030202)

Term ID:

30202

Name:

Favorable response of weakness to acetylcholine esterase inhibitors

Synonym:

Favourable response of weakness to acetylcholine esterase inhibitors

Definition:

Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.

Comments:

Reference:

HP:0030202

Genes and Diseases:

Child Nodes:

Sister Nodes:

Unfavorable response of muscle weakness to acetylcholine esterase inhibitors (HP:0030203)

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:0030202	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	12
HP:0030202	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	46
HP:0030202	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	38
HP:0030202	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	128
HP:0030202	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	34

Genes (5) :ALG14 ALG2 DPAGT1 GFPT1 GMPPB

Diseases (1) :ORPHA:353327

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.