MCID: DFN014
MIFTS: 13

Deafness Nephritis Anorectal Malformation

Categories: Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness Nephritis Anorectal Malformation

MalaCards integrated aliases for Deafness Nephritis Anorectal Malformation:

Name: Deafness Nephritis Anorectal Malformation 54
Dominant Ano-Rectal Malformation, Nephritis and Nerve-Deafness 54
Deafness-Nephritis-Ano-Rectal Malformation Syndrome 60
Deafness - Nephritis - Ano-Rectal Malformation 54
Deafness Nephritis Ano Rectal Malformation 74
Lowe Kohn Cohen Syndrome 54
Lowe-Kohn-Cohen Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
lowe-kohn-cohen syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C2931080
Orphanet 60 ORPHA2408
UMLS 74 C2931080

Summaries for Deafness Nephritis Anorectal Malformation

MalaCards based summary : Deafness Nephritis Anorectal Malformation, is also known as dominant ano-rectal malformation, nephritis and nerve-deafness. Affiliated tissues include skin, and related phenotypes are nephropathy and anal atresia

Related Diseases for Deafness Nephritis Anorectal Malformation

Symptoms & Phenotypes for Deafness Nephritis Anorectal Malformation

Human phenotypes related to Deafness Nephritis Anorectal Malformation:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000112
2 anal atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002023
3 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
4 preauricular skin tag 60 33 frequent (33%) Frequent (79-30%) HP:0000384
5 anorectal anomaly 60 Very frequent (99-80%)

Drugs & Therapeutics for Deafness Nephritis Anorectal Malformation

Search Clinical Trials , NIH Clinical Center for Deafness Nephritis Anorectal Malformation

Genetic Tests for Deafness Nephritis Anorectal Malformation

Anatomical Context for Deafness Nephritis Anorectal Malformation

MalaCards organs/tissues related to Deafness Nephritis Anorectal Malformation:

42
Skin

Publications for Deafness Nephritis Anorectal Malformation

Variations for Deafness Nephritis Anorectal Malformation

Expression for Deafness Nephritis Anorectal Malformation

Search GEO for disease gene expression data for Deafness Nephritis Anorectal Malformation.

Pathways for Deafness Nephritis Anorectal Malformation

GO Terms for Deafness Nephritis Anorectal Malformation

Sources for Deafness Nephritis Anorectal Malformation

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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