MCID: IMP008
MIFTS: 3

Imperforate Oropharynx-Costo Vetebral Anomalies

Categories: Rare diseases

Aliases & Classifications for Imperforate Oropharynx-Costo Vetebral Anomalies

MalaCards integrated aliases for Imperforate Oropharynx-Costo Vetebral Anomalies:

Name: Imperforate Oropharynx-Costo Vetebral Anomalies 53
Seghers Syndrome 53

Classifications:



Summaries for Imperforate Oropharynx-Costo Vetebral Anomalies

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2759DefinitionImperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.Visit the Orphanet disease page for more resources.

MalaCards based summary : Imperforate Oropharynx-Costo Vetebral Anomalies, also known as seghers syndrome, is related to imperforate oropharynx-costovertebral anomalies syndrome.

Related Diseases for Imperforate Oropharynx-Costo Vetebral Anomalies

Diseases related to Imperforate Oropharynx-Costo Vetebral Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 imperforate oropharynx-costovertebral anomalies syndrome 11.3

Symptoms & Phenotypes for Imperforate Oropharynx-Costo Vetebral Anomalies

Drugs & Therapeutics for Imperforate Oropharynx-Costo Vetebral Anomalies

Search Clinical Trials , NIH Clinical Center for Imperforate Oropharynx-Costo Vetebral Anomalies

Genetic Tests for Imperforate Oropharynx-Costo Vetebral Anomalies

Anatomical Context for Imperforate Oropharynx-Costo Vetebral Anomalies

Publications for Imperforate Oropharynx-Costo Vetebral Anomalies

Variations for Imperforate Oropharynx-Costo Vetebral Anomalies

Expression for Imperforate Oropharynx-Costo Vetebral Anomalies

Search GEO for disease gene expression data for Imperforate Oropharynx-Costo Vetebral Anomalies.

Pathways for Imperforate Oropharynx-Costo Vetebral Anomalies

GO Terms for Imperforate Oropharynx-Costo Vetebral Anomalies

Sources for Imperforate Oropharynx-Costo Vetebral Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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