MCID: CRT024
MIFTS: 12

Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders malady

Genetic diseases (common), Bone diseases categories

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

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MalaCards based summary: 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). Related mouse phenotype mortality/aging.

GeneReviews summary for chh

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

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

Name: Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders 19 20 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Bone diseases


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 hypoplasia31.2RMRP
2anauxetic dysplasia31.0RMRP

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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Drug clinical trials:

Search ClinicalTrials for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders

Search 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 Disorders20 22 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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MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.1RMRP, LAMA2

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet