Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle tone (HP:0003808)help
Parent Node:
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Hypotonia (HP:0001252)help
..Starting node
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Appendicular hypotonia (HP:0012389)help
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: 
..expandAxial hypotonia (HP:0008936) help
..expandFacial hypotonia (HP:0000297) help
..expandFrog-leg posture (HP:0031139) help
..expandGeneralized hypotonia (HP:0001290) help
..expandInfantile muscular hypotonia (HP:0008947) help
..expandNeonatal hypotonia (HP:0001319) help
..expandOral motor hypotonia (HP:0030190) help
..expandSevere muscular hypotonia (HP:0006829) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012389HP:0012389Appendicular hypotonia0CACNA1C CL E G H7751390OMIM:620029572
HP:0012389HP:0012389Appendicular hypotonia0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0012389HP:0012389Appendicular hypotonia0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0012389HP:0012389Appendicular hypotonia0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012389HP:0012389Appendicular hypotonia0FNIP1 CL E G H9645929418OMIM:619705IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD931
HP:0012389HP:0012389Appendicular hypotonia0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0012389HP:0012389Appendicular hypotonia0GEMIN5 CL E G H2592920043OMIM:619333NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0012389HP:0012389Appendicular hypotonia0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040283 - Occasional240
HP:0012389HP:0012389Appendicular hypotonia0LGI3 CL E G H20319018711OMIM:620007
HP:0012389HP:0012389Appendicular hypotonia0NAPB CL E G H6390815751OMIM:6200332
HP:0012389HP:0012389Appendicular hypotonia0NRROS CL E G H37538724613OMIM:618875SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC1
HP:0012389HP:0012389Appendicular hypotonia0PEX3 CL E G H85048858OMIM:617370Peroxisome biogenesis disorder 10B47
HP:0012389HP:0012389Appendicular hypotonia0PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophyHP:0040282 - Frequent49
HP:0012389HP:0012389Appendicular hypotonia0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223


Genes (14) :CACNA1C CWF19L1 EXOSC9 FBXO28 FNIP1 GBA1 GEMIN5 GNPTAB LGI3 NAPB NRROS PEX3 PRPS1 UNC80

Diseases (14) :OMIM:620029 OMIM:616127 OMIM:618065 OMIM:619777 OMIM:619705 ORPHA:2072 OMIM:619333 ORPHA:576 OMIM:620007 OMIM:620033 OMIM:618875 OMIM:617370 ORPHA:1187 OMIM:616801
 

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