MCID: CRD018
MIFTS: 9

Cardioauditory Syndrome of Sanchez Cascos

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardioauditory Syndrome of Sanchez Cascos

MalaCards integrated aliases for Cardioauditory Syndrome of Sanchez Cascos:

Name: Cardioauditory Syndrome of Sanchez Cascos 58 54 74
Sanchez Cascos Cardioauditory Syndrome 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cardioauditory syndrome of sanchez cascos:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 212100
MedGen 43 C1859329
UMLS 74 C1859329

Summaries for Cardioauditory Syndrome of Sanchez Cascos

MalaCards based summary : Cardioauditory Syndrome of Sanchez Cascos, is also known as sanchez cascos cardioauditory syndrome. Related phenotypes are hearing impairment and ventricular hypertrophy

Description from OMIM: 212100

Related Diseases for Cardioauditory Syndrome of Sanchez Cascos

Symptoms & Phenotypes for Cardioauditory Syndrome of Sanchez Cascos

Human phenotypes related to Cardioauditory Syndrome of Sanchez Cascos:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365
2 ventricular hypertrophy 33 HP:0001714
3 increased dermatoglyphic whorls 33 HP:0005875

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
ventricular hypertrophy

Limbs:
increased dermatoglyphic whorls

Ears:
deafness

Clinical features from OMIM:

212100

Drugs & Therapeutics for Cardioauditory Syndrome of Sanchez Cascos

Search Clinical Trials , NIH Clinical Center for Cardioauditory Syndrome of Sanchez Cascos

Genetic Tests for Cardioauditory Syndrome of Sanchez Cascos

Anatomical Context for Cardioauditory Syndrome of Sanchez Cascos

Publications for Cardioauditory Syndrome of Sanchez Cascos

Variations for Cardioauditory Syndrome of Sanchez Cascos

Expression for Cardioauditory Syndrome of Sanchez Cascos

Search GEO for disease gene expression data for Cardioauditory Syndrome of Sanchez Cascos.

Pathways for Cardioauditory Syndrome of Sanchez Cascos

GO Terms for Cardioauditory Syndrome of Sanchez Cascos

Sources for Cardioauditory Syndrome of Sanchez Cascos

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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