Human Phenotype Ontology 
Grandparent Node:
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Vertebral fusion (HP:0002948)help
Parent Node:
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Fused cervical vertebrae (HP:0002949)help
..Starting node
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Cervical C2/C3 vertebral fusion (HP:0004602)help
Term ID: 4602
Name: Cervical C2/C3 vertebral fusion
Synonym: Fusion of cervical vertebrae c2-3; Klippel-Feil anomaly; Klippel-Feil syndrome
Definition: Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.
Comments:
Reference: HP:0004602
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCervical C3/C4 vertebral fusion (HP:0030281) help
..expandCervical C5/C6 vertebrae fusion (HP:0004635) help
..expandFusion of midcervical facet joints (HP:0004575) help
..expandProgressive cervical vertebral spine fusion (HP:0008449) 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:0004602HP:0004602Cervical C2/C3 vertebral fusion0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0004602HP:0004602Cervical C2/C3 vertebral fusion0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0004602HP:0004602Cervical C2/C3 vertebral fusion0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0004602HP:0004602Cervical C2/C3 vertebral fusion0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0004602HP:0004602Cervical C2/C3 vertebral fusion0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0004602HP:0004602Cervical C2/C3 vertebral fusion0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0004602HP:0004602Cervical C2/C3 vertebral fusion0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040282 - Frequent
HP:0004602HP:0004602Cervical C2/C3 vertebral fusion0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia493
HP:0004602HP:0004602Cervical C2/C3 vertebral fusion0GDF3 CL E G H95734218ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent7
HP:0004602HP:0004602Cervical C2/C3 vertebral fusion0GDF6 CL E G H3922554221ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent64
HP:0004602HP:0004602Cervical C2/C3 vertebral fusion0GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0004602HP:0004602Cervical C2/C3 vertebral fusion0MEOX1 CL E G H42227013ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent5
HP:0004602HP:0004602Cervical C2/C3 vertebral fusion0MEOX1 CL E G H42227013OMIM:214300Klippel-Feil syndrome, autosomal recessive.5
HP:0004602HP:0004602Cervical C2/C3 vertebral fusion0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5


Genes (11) :AEBP1 AFF4 ASH1L ASXL2 CDH11 DKK1 FLNA GDF3 GDF6 MEOX1 MYO18B

Diseases (12) :OMIM:618000 OMIM:616368 ORPHA:444077 OMIM:617796 OMIM:617190 OMIM:211380 ORPHA:268882 OMIM:305620 ORPHA:2345 OMIM:118100 OMIM:214300 OMIM:616549
 

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