MCID: PSD042
MIFTS: 5

Pseudopapilledema Blepharophimosis Hand Anomalies

Categories: Rare diseases

Aliases & Classifications for Pseudopapilledema Blepharophimosis Hand Anomalies

MalaCards integrated aliases for Pseudopapilledema Blepharophimosis Hand Anomalies:

Name: Pseudopapilledema Blepharophimosis Hand Anomalies 52
Pseudopapilledema, Ocular Hyteorism, Blepharophimosis and Hand Anomalies 52
Acro-Oto-Ocular Syndrome 52

Classifications:



Summaries for Pseudopapilledema Blepharophimosis Hand Anomalies

MalaCards based summary : Pseudopapilledema Blepharophimosis Hand Anomalies, also known as pseudopapilledema, ocular hyteorism, blepharophimosis and hand anomalies, is related to pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies and pseudopapilledema.

Related Diseases for Pseudopapilledema Blepharophimosis Hand Anomalies

Diseases related to Pseudopapilledema Blepharophimosis Hand Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies 11.7
2 pseudopapilledema 10.3
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
4 autosomal recessive disease 10.3

Symptoms & Phenotypes for Pseudopapilledema Blepharophimosis Hand Anomalies

Drugs & Therapeutics for Pseudopapilledema Blepharophimosis Hand Anomalies

Search Clinical Trials , NIH Clinical Center for Pseudopapilledema Blepharophimosis Hand Anomalies

Genetic Tests for Pseudopapilledema Blepharophimosis Hand Anomalies

Anatomical Context for Pseudopapilledema Blepharophimosis Hand Anomalies

Publications for Pseudopapilledema Blepharophimosis Hand Anomalies

Articles related to Pseudopapilledema Blepharophimosis Hand Anomalies:

# Title Authors PMID Year
1
Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder. 61
9415472 1997

Variations for Pseudopapilledema Blepharophimosis Hand Anomalies

Expression for Pseudopapilledema Blepharophimosis Hand Anomalies

Search GEO for disease gene expression data for Pseudopapilledema Blepharophimosis Hand Anomalies.

Pathways for Pseudopapilledema Blepharophimosis Hand Anomalies

GO Terms for Pseudopapilledema Blepharophimosis Hand Anomalies

Sources for Pseudopapilledema Blepharophimosis Hand 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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