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 muscle tone (HP:0003808)

Parent Node:
Hypotonia (HP:0001252)

..Starting node
..Appendicular hypotonia (HP:0012389)

Term ID:

12389

Name:

Appendicular hypotonia

Synonym:

Definition:

Muscular hypotonia of one or more limbs.

Comments:

Reference:

HP:0012389

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial hypotonia (HP:0000297)

Frog-leg posture (HP:0031139)

Generalized hypotonia (HP:0001290)

Infantile muscular hypotonia (HP:0008947)

Muscular hypotonia of the trunk (HP:0008936)

Neonatal hypotonia (HP:0001319)

Oral motor hypotonia (HP:0030190)

Severe muscular hypotonia (HP:0006829)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012389	HP:0012389	Appendicular hypotonia	0	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	0	1816	26582	612636

Genes (1) :UNC80

Diseases (1) :616801

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.