MCID: SNT001
MIFTS: 8

Santos Mateus Leal Syndrome

Categories: Ear diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Santos Mateus Leal Syndrome

MalaCards integrated aliases for Santos Mateus Leal Syndrome:

Name: Santos Mateus Leal Syndrome 53 72
Hirschsprung Disease Associated with Polydactyly, Unilateral Renal Agenesis, Hypertelorism, and Congenital Deafness 53
Hirschsprung Disease, Deafness and Polydactyly 53

Classifications:



External Ids:

UMLS 72 C2931452

Summaries for Santos Mateus Leal Syndrome

MalaCards based summary : Santos Mateus Leal Syndrome, also known as hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness, is related to hirschsprung disease with polydactyly, renal agenesis, and deafness and hirschsprung disease 1.

Related Diseases for Santos Mateus Leal Syndrome

Diseases related to Santos Mateus Leal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hirschsprung disease with polydactyly, renal agenesis, and deafness 11.9
2 hirschsprung disease 1 10.5
3 hypertelorism 10.5
4 renal hypodysplasia/aplasia 1 10.5
5 branchiootic syndrome 1 10.5
6 polydactyly 10.5

Graphical network of the top 20 diseases related to Santos Mateus Leal Syndrome:



Diseases related to Santos Mateus Leal Syndrome

Symptoms & Phenotypes for Santos Mateus Leal Syndrome

Drugs & Therapeutics for Santos Mateus Leal Syndrome

Search Clinical Trials , NIH Clinical Center for Santos Mateus Leal Syndrome

Genetic Tests for Santos Mateus Leal Syndrome

Anatomical Context for Santos Mateus Leal Syndrome

Publications for Santos Mateus Leal Syndrome

Articles related to Santos Mateus Leal Syndrome:

# Title Authors PMID Year
1
Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. 38
3351909 1988

Variations for Santos Mateus Leal Syndrome

Expression for Santos Mateus Leal Syndrome

Search GEO for disease gene expression data for Santos Mateus Leal Syndrome.

Pathways for Santos Mateus Leal Syndrome

GO Terms for Santos Mateus Leal Syndrome

Sources for Santos Mateus Leal Syndrome

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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