MCID: CRV073
MIFTS: 7

Cervical Vertebral Dysplasia

Aliases & Classifications for Cervical Vertebral Dysplasia

MalaCards integrated aliases for Cervical Vertebral Dysplasia:

Name: Cervical Vertebral Dysplasia 57 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cervical vertebral dysplasia:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 118005
MedGen 42 C1861693
SNOMED-CT via HPO 69 263681008
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
Spine:
cervical vertebral dysplasia
head tilt
cervical vertebral facet hypoplasia
suboccipital pain

Radiology:
anterior atlanto-occipital dislocation


Clinical features from OMIM:

118005

Human phenotypes related to Cervical Vertebral Dysplasia:

32
# Description HPO Frequency HPO Source Accession
1 cervical vertebral dysplasia 32 HP:0008469
2 cervical vertebral facet hypoplasia 32 HP:0008461
3 anterior atlanto-occipital dislocation 32 HP:0005678

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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