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 23
 
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders 24 27

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 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 hypoplasia10.3
2anauxetic dysplasia10.3
3metaphyseal dysplasia without hypotrichosis9.5LAMA2, RMRP
4caveolinopathies9.5LAMA2, RMRP
5otosclerosis 89.3LAMA2, 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 & Phenotypes 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 Disorders27 24 RMRP

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

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet