MCID: CRT024
MIFTS: 13

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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Sources:
20GeneReviews, 34MalaCards
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MalaCards: 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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Sources:
20GeneReviews, 21GeneTests, 23GTR
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Classifications:

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


Aliases & Descriptions:

cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 20 21 23


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

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18GeneCards, 19GeneDecks
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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 hypoplasia30.9RMRP
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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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

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

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

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

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Sources:
21GeneTests, 23GTR
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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 Disorders21 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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Sources:
38MGI
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MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.1RMRP, LAMA2

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

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53PubMed
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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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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
  • Antibodies

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet