MCID: CRD018
MIFTS: 11

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 57 53 73
Sanchez Cascos Cardioauditory Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cardioauditory syndrome of sanchez cascos:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 212100
MedGen 42 C1859329
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
ventricular hypertrophy

Limbs:
increased dermatoglyphic whorls

Ears:
deafness


Clinical features from OMIM:

212100

Human phenotypes related to Cardioauditory Syndrome of Sanchez Cascos:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 ventricular hypertrophy 32 HP:0001714
3 increased dermatoglyphic whorls 32 HP:0005875

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 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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