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

Grandparent Node:
Hypertonia (HP:0001276)

Parent Node:
Abnormality of the musculature of the upper limbs (HP:0001446)

Parent Node:
Limb hypertonia (HP:0002509)

..Starting node
..Upper limb hypertonia (HP:0200049)

Term ID:

200049

Name:

Upper limb hypertonia

Synonym:

Definition:

Increased muscle tone observed in the arms of the affected person.

Comments:

Reference:

HP:0200049

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lower limb hypertonia (HP:0006895)

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:0200049	HP:0200049	Upper limb hypertonia	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0200049	HP:0200049	Upper limb hypertonia	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040282 - Frequent	19
HP:0200049	HP:0200049	Upper limb hypertonia	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0200049	HP:0200049	Upper limb hypertonia	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0200049	HP:0200049	Upper limb hypertonia	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0200049	HP:0200049	Upper limb hypertonia	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0200049	HP:0200049	Upper limb hypertonia	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0200049	HP:0200049	Upper limb hypertonia	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0200049	HP:0200049	Upper limb hypertonia	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040282 - Frequent	7
HP:0200049	HP:0200049	Upper limb hypertonia	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7

Genes (9) :CLDN11 MTPAP SEPSECS SPG7 TSEN15 TSEN2 TSEN34 TSEN54 VPS37A

Diseases (6) :OMIM:619328 ORPHA:254343 ORPHA:2524 OMIM:607259 ORPHA:319199 OMIM:614898

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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