Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the tongue (HP:0000157)help
Parent Node:
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Abnormal tongue morphology (HP:0030809)help
..Starting node
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Tongue atrophy (HP:0012473)help
Term ID: 12473
Name: Tongue atrophy
Synonym: Atrophy of the tongue; Lingual atrophy; Lingual wasting; Wasting of the tongue
Definition: Wasting of the tongue.
Comments:
Reference: HP:0012473
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal hyoglossus muscle morphology (HP:3000051) help
..expandAbnormal lingual artery morphology (HP:3000074) help
..expandAbnormality of lingual tonsil (HP:3000076) help
..expandAbnormality of the tongue muscle (HP:0040173) help
..expandAnkyloglossia (HP:0010296) help
..expandAplasia/Hypoplasia of the tongue (HP:0010295) help
..expandBifid tongue (HP:0010297) help
..expandDuplicated tongue (HP:0040294) help
..expandFurrowed tongue (HP:0000221) help
..expandGeographic tongue (HP:0025252) help
..expandGlossitis (HP:0000206) help
..expandGlossoptosis (HP:0000162) help
..expandLobulated tongue (HP:0000180) help
..expandMacroglossia (HP:0000158) help
..expandPosteriorly placed tongue (HP:0009087) help
..expandProtruding tongue (HP:0010808) help
..expandSmooth tongue (HP:0010298) help
..expandStiff tongue (HP:0031373) help
..expandStrawberry tongue (HP:0031042) help
..expandTongue nodules (HP:0000199) help
..expandTongue telangiectasia (HP:0000227) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012473HP:0012473Tongue atrophy0COL7A1 CL E G H129479409ORPHA126162214120120
HP:0012473HP:0012473Tongue atrophy0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0012473HP:0012473Tongue atrophy0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11263954601278
HP:0012473HP:0012473Tongue atrophy0KY CL E G H339855496689ORPHA18726576605739
HP:0012473HP:0012473Tongue atrophy0NOP56 CL E G H10528276198ORPHA14215911614154
HP:0012473HP:0012473Tongue atrophy0SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1148329427608206
HP:0012473HP:0012473Tongue atrophy0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012473HP:0012473Tongue atrophy0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM04215911614154
HP:0012473HP:0012473Tongue atrophy0PANK2 CL E G H80025216873ORPHA037115894606157


Genes (8) :COL7A1 EXOSC3 FRG1 KY NOP56 PANK2 SH3TC2 SLC52A3

Diseases (9) :79409 614678 158900 496689 276198 614153 216873 601596 211530
 

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