MCID: CRT024
MIFTS: 13

Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders malady

Genetic diseases (common), Bone diseases categories
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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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cartilage-hair hypoplasia31.0RMRP
2anauxetic dysplasia30.8RMRP

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:

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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:

36
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
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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Expression patterns in normal tissues for genes affiliated with Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders

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

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet