Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Hypotonia

Synonyms

Low or weak muscle tone

Muscular hypotonia

Low muscle tone

Muscle hypotonia

Peripheral hypotonia

Central hypotonia

Definitions

Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

ID

http://purl.obolibrary.org/obo/HP_0001252

comment

Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features.

database_cross_reference

UMLS:C0026827

MSH:D009123

SNOMEDCT_US:398151007

SNOMEDCT_US:398152000

definition

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

equivalentClass

http://purl.obolibrary.org/obo/MP_0004144

has exact synonym

Low or weak muscle tone

Muscular hypotonia

Low muscle tone

Muscle hypotonia

has_alternative_id

HP:0011398

has_narrow_synonym

Peripheral hypotonia

Central hypotonia

id

HP:0001252

label

Hypotonia

notation

HP:0001252

prefLabel

Hypotonia

subClassOf

http://purl.obolibrary.org/obo/HP_0003808

http://purl.obolibrary.org/obo/MP_0004142

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0001252 HP SAME_URI
http://purl.obolibrary.org/obo/HP_0001252 EFO SAME_URI
http://purl.obolibrary.org/obo/HP_0001252 MONDO SAME_URI
http://purl.obolibrary.org/obo/HP_0001252 HP SAME_URI
http://purl.obolibrary.org/obo/HP_0001252 DOID SAME_URI
http://purl.obolibrary.org/obo/HP_0001252 OBA SAME_URI
http://purl.obolibrary.org/obo/HP_0001252 CCONT SAME_URI
http://purl.obolibrary.org/obo/HP_0001252 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/HP_0001252 HSPO SAME_URI
http://purl.obolibrary.org/obo/HP_0001252 HHEAR SAME_URI
http://purl.obolibrary.org/obo/HP_0001252 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/HP_0001252 HP LOOM
http://purl.obolibrary.org/obo/HP_0001252 EFO LOOM
http://purl.obolibrary.org/obo/HP_0001252 HP LOOM
http://purl.obolibrary.org/obo/MP_0004144 MP LOOM
http://purl.obolibrary.org/obo/HP_0001252 DOID LOOM
http://purl.obolibrary.org/obo/HP_0001252 OBA LOOM
http://purl.obolibrary.org/obo/HP_0001252 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0001252 HSPO LOOM
http://purl.obolibrary.org/obo/HP_0001252 HHEAR LOOM
http://purl.obolibrary.org/obo/HP_0001252 NIFSTD LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU000197 OMIM LOOM
http://purl.bioontology.org/ontology/LNC/LA24751-2 LOINC LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1700 IFAR LOOM
http://purl.obolibrary.org/obo/NCIT_C87070 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10021118 MEDDRA LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Hypotonia RPO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C87070 NCIT LOOM
http://localhost/plosthes.2017-1#7714 PLOSTHES LOOM
http://purl.bioontology.org/ontology/CSP/1976-0737 CRISP LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Hypotonia PEDTERM LOOM
http://purl.bioontology.org/ontology/CST/HYPOTONIA COSTART LOOM
http://www.gamuts.net/entity#hypotonia GAMUTS LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Hypotonia ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Hypotonia MEPO LOOM
http://www.limics.org/hrdo/rdfns#sgn_id_43330 HRDO LOOM
http://purl.obolibrary.org/obo/MP_0004144 EPIO LOOM
http://purl.obolibrary.org/obo/MP_0004144 CHIRO LOOM
http://purl.bioontology.org/ontology/WHO/0119 WHO-ART LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/hypotonia MEPO LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/hypotonia EPISEM LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57/hypotonia NEO LOOM