Cervical C2/C3 vertebral fusion

Symptom Information:

Symptom ID: HPO:0004602
Synonyms:
Fusion of cervical vertebrae c2-3 [HPO:0004602]
Klippel-Feil syndrome [HPO:0004602]
Cervical vertebral fusion (in some patients) [OMIM:Cervical vertebral fusion (in some patients)]
Klippel-Feil syndrome [MedDRA:10023464]
Quality:
Cross references:
OMIM: "Cervical vertebral fusion (in some patients)" [OMIM:Cervical vertebral fusion (in some patients)]
Is a (Direct Parents):
HPO         Fused cervical vertebrae
MedDRA Musculoskeletal and connective tissue disorders of spine congenital
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the vertebral column(HPO:0000925)
                   Abnormality of the vertebrae(HPO:0003468)
                      Vertebral fusion(HPO:0002948)
                         Fused cervical vertebrae(HPO:0002949)
                            Cervical C2/C3 vertebral fusion(HPO:0004602)
             Abnormal joint morphology(HPO:0001367)
                Abnormality of joint mobility(HPO:0011729)
                   Synostosis of joints(HPO:0100240)
                      Vertebral fusion(HPO:0002948)
                         Fused cervical vertebrae(HPO:0002949)
                            Cervical C2/C3 vertebral fusion(HPO:0004602)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of spine congenital(MedDRA:10028383)
          Cervical C2/C3 vertebral fusion(HPO:0004602)
Database Frequency: 3 / 7739
Resource:

All diseases associated with this symptom:

Isolated Klippel-Feil syndrome (Orphanet:2345)
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Sterile multifocal osteomyelitis with periostitis and pustulosis (Orphanet:210115)