Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the middle ear ossicles (HP:0004452)help
Parent Node:
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Abnormality of the stapes (HP:0008628)help
..Starting node
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Otosclerosis (HP:0000362)help
Term ID: 362
Name: Otosclerosis
Synonym:
Definition: In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.
Comments:
Reference: HP:0000362
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent stapes (HP:0011456) help
..expandAbsent stapes head (HP:0200111) help
..expandStapes ankylosis (HP:0000381) 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:0000362HP:0000362Otosclerosis0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000362HP:0000362Otosclerosis0COL1A1 CL E G H12772197OMIM:166200Osteogenesis imperfecta, type I.373
HP:0000362HP:0000362Otosclerosis0COL1A1 CL E G H12772197OMIM:166220Osteogenesis imperfecta, type IV.373
HP:0000362HP:0000362Otosclerosis0COL1A2 CL E G H12782198OMIM:166220Osteogenesis imperfecta, type IV.243
HP:0000362HP:0000362Otosclerosis0GDF6 CL E G H3922554221OMIM:617898Multiple synostoses syndrome 4.64
HP:0000362HP:0000362Otosclerosis0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0000362HP:0000362Otosclerosis0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0000362HP:0000362Otosclerosis0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional4


Genes (6) :BPTF COL1A1 COL1A2 GDF6 IDS PSMD12

Diseases (6) :ORPHA:529962 OMIM:166200 OMIM:166220 OMIM:617898 ORPHA:217093 ORPHA:217085
 

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