MCID: CRT024
MIFTS: 12

Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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Aliases & Descriptions for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:

Name: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders 22
 
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders 23 25

Classifications:



Summaries for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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MalaCards based summary: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders, also known as cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders, is related to cartilage-hair hypoplasia and anauxetic dysplasia. An important gene associated with Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease).

GeneReviews summary for NBK84550

Related Diseases for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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Diseases related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cartilage-hair hypoplasia10.4
2anauxetic dysplasia10.4
3metaphyseal dysplasia without hypotrichosis9.5LAMA2, RMRP
4caveolinopathies9.4LAMA2, RMRP
5otosclerosis 89.2LAMA2, RMRP

Graphical network of diseases related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:



Diseases related to cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders

Symptoms for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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Drugs & Therapeutics for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders

Genetic Tests for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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Genetic tests related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:

id Genetic test Affiliating Genes
1 Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders25 23 RMRP

Anatomical Context for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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Animal Models for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum... or affiliated genes

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Publications for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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Articles related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:

idTitleAuthorsYear
1
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia - Anauxetic dysplasia spectrum disorder: A coincidental finding? (25596067)
2015
2
Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders (22420014)
1993

Variations for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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Expression for genes affiliated with Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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Search GEO for disease gene expression data for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders.

Pathways for genes affiliated with Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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GO Terms for genes affiliated with Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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Sources for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet