MCID: CRT024
MIFTS: 12

Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders malady

Categories: Genetic diseases, Bone diseases

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

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 29

Classifications:



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

MalaCards based summary : Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders, also known as cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders, is related to anauxetic dysplasia and cartilage-hair hypoplasia. An important gene associated with Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease).

GeneReviews: NBK84550

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

Diseases related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 anauxetic dysplasia 30.2 LAMA2 RMRP
2 cartilage-hair hypoplasia 10.3
3 charcot-marie-tooth neuropathy x type 5 9.8 LAMA2 RMRP
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9.7 LAMA2 RMRP

Symptoms & Phenotypes for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

Drugs & Therapeutics for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

Search Clinical Trials , NIH Clinical Center for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders

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

Genetic tests related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:

id Genetic test Affiliating Genes
1 Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders 29 24 RMRP

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

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

Articles related to Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders:

id Title Authors Year
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...

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

Search GEO for disease gene expression data for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders.

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

GO Terms for Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum...

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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