MCID: CRV073
MIFTS: 6

Cervical Vertebral Dysplasia

Aliases & Classifications for Cervical Vertebral Dysplasia

MalaCards integrated aliases for Cervical Vertebral Dysplasia:

Name: Cervical Vertebral Dysplasia 58 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cervical vertebral dysplasia:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 58 118005
MedGen 43 C1861693
SNOMED-CT via HPO 70 263681008
UMLS 74 C1861693

Summaries for Cervical Vertebral Dysplasia

MalaCards based summary : Cervical Vertebral Dysplasia Related phenotypes are cervical vertebral dysplasia and cervical vertebral facet hypoplasia

Description from OMIM: 118005

Related Diseases for Cervical Vertebral Dysplasia

Symptoms & Phenotypes for Cervical Vertebral Dysplasia

Human phenotypes related to Cervical Vertebral Dysplasia:

33
# Description HPO Frequency HPO Source Accession
1 cervical vertebral dysplasia 33 HP:0008469
2 cervical vertebral facet hypoplasia 33 HP:0008461
3 anterior atlanto-occipital dislocation 33 HP:0005678

Symptoms via clinical synopsis from OMIM:

58
Spine:
cervical vertebral dysplasia
head tilt
cervical vertebral facet hypoplasia
suboccipital pain

Radiology:
anterior atlanto-occipital dislocation

Clinical features from OMIM:

118005

Drugs & Therapeutics for Cervical Vertebral Dysplasia

Search Clinical Trials , NIH Clinical Center for Cervical Vertebral Dysplasia

Genetic Tests for Cervical Vertebral Dysplasia

Anatomical Context for Cervical Vertebral Dysplasia

Publications for Cervical Vertebral Dysplasia

Variations for Cervical Vertebral Dysplasia

Expression for Cervical Vertebral Dysplasia

Search GEO for disease gene expression data for Cervical Vertebral Dysplasia.

Pathways for Cervical Vertebral Dysplasia

GO Terms for Cervical Vertebral Dysplasia

Sources for Cervical Vertebral Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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