Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the larynx (HP:0001600)help
Parent Node:
expandAbnormal larynx morphology (HP:0025423)help
..Starting node
..expandAbnormal vocal cord morphology (HP:0008777)help
Term ID: 8777
Name: Abnormal vocal cord morphology
Synonym: Abnormality of the vocal cords
Definition: An abnormality of the vocal cord.
Comments:
Reference: HP:0008777
Genes and Diseases:
 
       Child Nodes:
........expandBowing of the vocal cords (HP:0008756) help

 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
..expandAnteroposteriorly shortened larynx (HP:0005956) help
..expandCartilaginous ossification of larynx (HP:0008747) help
..expandLaryngeal atresia (HP:0008750) help
..expandLaryngeal calcification (HP:0008754) help
..expandLaryngeal cartilage malformation (HP:0008752) 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:0008777HP:0008777Abnormal vocal cord morphology0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0008777HP:0008777Abnormal vocal cord morphology0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0008777HP:0008777Abnormal vocal cord morphology0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0008777HP:0008777Abnormal vocal cord morphology0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0008777HP:0008777Abnormal vocal cord morphology0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0008777HP:0032041Vocal cord polyp1 CL E G H
HP:0008777HP:0008756Bowing of the vocal cords1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0008777HP:0008756Bowing of the vocal cords1LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1.
HP:0008777HP:0008756Bowing of the vocal cords1MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0008777HP:0008756Bowing of the vocal cords1MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0008777HP:0008756Bowing of the vocal cords1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent


Genes (4) :GIPC1 LRP12 MATR3 NOTCH2NLC

Diseases (4) :ORPHA:98897 OMIM:164310 OMIM:606070 ORPHA:600
 

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