MCID: PLR011

Polr1d-Related Treacher Collins Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Polr1d-Related Treacher Collins Syndrome

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Aliases & Descriptions for Polr1d-Related Treacher Collins Syndrome:

Name: Polr1d-Related Treacher Collins Syndrome 22
Treacher Collins Syndrome 2 22 65
 
Tcs2 22

Classifications:



External Ids:

UMLS65 C3150983

Summaries for Polr1d-Related Treacher Collins Syndrome

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MalaCards based summary: Polr1d-Related Treacher Collins Syndrome, also known as treacher collins syndrome 2, is related to treacher collins syndrome 2. An important gene associated with Polr1d-Related Treacher Collins Syndrome is POLR1D (Polymerase (RNA) I Subunit D). Affiliated tissues include eye and bone.

Related Diseases for Polr1d-Related Treacher Collins Syndrome

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Diseases in the Treacher Collins Syndrome 1 family:

Treacher Collins Syndrome 3 Treacher Collins Syndrome 2
Polr1c-Related Treacher Collins Syndrome polr1d-related treacher collins syndrome
Tcof1-Related Treacher Collins Syndrome

Diseases related to Polr1d-Related Treacher Collins Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1treacher collins syndrome 212.9

Symptoms for Polr1d-Related Treacher Collins Syndrome

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Drugs & Therapeutics for Polr1d-Related Treacher Collins Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Polr1d-Related Treacher Collins Syndrome

Genetic Tests for Polr1d-Related Treacher Collins Syndrome

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Genetic tests related to Polr1d-Related Treacher Collins Syndrome:

id Genetic test Affiliating Genes
1 Polr1d-Related Treacher Collins Syndrome22 POLR1D

Anatomical Context for Polr1d-Related Treacher Collins Syndrome

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MalaCards organs/tissues related to Polr1d-Related Treacher Collins Syndrome:

33
Eye, Bone

Animal Models for Polr1d-Related Treacher Collins Syndrome or affiliated genes

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Publications for Polr1d-Related Treacher Collins Syndrome

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Variations for Polr1d-Related Treacher Collins Syndrome

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Expression for genes affiliated with Polr1d-Related Treacher Collins Syndrome

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Search GEO for disease gene expression data for Polr1d-Related Treacher Collins Syndrome.

Pathways for genes affiliated with Polr1d-Related Treacher Collins Syndrome

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GO Terms for genes affiliated with Polr1d-Related Treacher Collins Syndrome

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Sources for Polr1d-Related Treacher Collins Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet