Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the skeletal system (HP:0000924)help
Parent Node:
expandAbnormal skeletal morphology (HP:0011842)help
..Starting node
..expandAbnormal hyoid bone morphology (HP:3000052)help
Term ID: 3000052
Name: Abnormal hyoid bone morphology
Synonym: Abnormality of hyoid bone
Definition: Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra.
Comments:
Reference: HP:3000052
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal appendicular skeleton morphology (HP:0011844) help
..expandAbnormal axial skeleton morphology (HP:0009121) help
..expandAbnormal bone structure (HP:0003330) help
..expandAbnormal cartilage morphology (HP:0002763) help
..expandAbnormal growth plate morphology (HP:0025368) help
..expandAbnormal joint morphology (HP:0001367) help
..expandAbnormal mandibular symphysis morphology (HP:3000079) help
..expandAbnormal synovial bursa morphology (HP:0025231) help
..expandAbnormal tendon morphology (HP:0100261) help
..expandAplasia/hypoplasia involving the skeleton (HP:0009115) help
..expandDysostosis multiplex (HP:0000943) help
..expandHyperostosis (HP:0100774) help
..expandHyperplastic callus formation (HP:0030268) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandobsolete Abnormality of cartilage morphology (HP:0410007) help
..expandSkeletal dysplasia (HP:0002652) 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:3000052HP:3000052Abnormal hyoid bone morphology0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040283 - Occasional


Genes (1) :ARSL

Diseases (1) :ORPHA:79345
 

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