Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the larynx (HP:0001600)help
Parent Node:
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Abnormal larynx morphology (HP:0025423)help
..Starting node
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Laryngeal cartilage malformation (HP:0008752)help
Term ID: 8752
Name: Laryngeal cartilage malformation
Synonym: Vocal impairment, severe, due to laryngeal cartilage abnormalities
Definition: A malformation of the laryngeal cartilage.
Comments:
Reference: HP:0008752
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal aryepiglottic fold morphology (HP:0008744) help
..expandAbnormal cricoid cartilage morphology (HP:3000038) help
..expandAbnormal epiglottis morphology (HP:0005483) help
..expandAbnormal lateral cricoarytenoid muscle morphology (HP:3000067) help
..expandAbnormal vocal cord morphology (HP:0008777) help
..expandAnteroposteriorly shortened larynx (HP:0005956) help
..expandCartilaginous ossification of larynx (HP:0008747) help
..expandLaryngeal atresia (HP:0008750) help
..expandLaryngeal calcification (HP:0008754) help
..expandLaryngeal cleft (HP:0008751) help
..expandLaryngeal cyst (HP:0100640) help
..expandLaryngeal edema (HP:0012027) help
..expandLaryngeal hypoplasia (HP:0008749) help
..expandLaryngeal obstruction (HP:0005945) help
..expandLaryngeal stenosis (HP:0001602) help
..expandLaryngeal web (HP:0005950) help
..expandLaryngomalacia (HP:0001601) help
..expandSubglottic stenosis (HP:0001607) 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:0008752HP:0008752Laryngeal cartilage malformation0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0008752HP:0008752Laryngeal cartilage malformation0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0008752HP:0008752Laryngeal cartilage malformation0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166


Genes (3) :CREBBP EP300 SLC26A2

Diseases (3) :ORPHA:353277 ORPHA:353284 ORPHA:56304
 

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