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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Sources:
19GeneReviews, 33MalaCards
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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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19GeneReviews, 20GeneTests, 22GTR
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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 19 20 22


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

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17GeneCards, 18GeneDecks
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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:
42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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37MGI
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MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.1RMRP, LAMA2

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

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52PubMed
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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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet