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 52
Seghers Syndrome 52

Classifications:



Summaries for Imperforate Oropharynx-Costo Vetebral Anomalies

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2759 Definition Imperforate 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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