RMRP wt Allele

Preferred Label : RMRP wt Allele;

NCIt synonyms : NONHSAG052119.2; mrp RNA; Cartilage-Hair Hypoplasia Gene; Mitochondrial RNA-Processing, Endoribonuclease, RNA Component of Gene; RMRPR; RF00030; RRP2; CHH; Lnc-ARHGEF39-1; RNA Component of Mitochondrial RNA Processing Endoribonuclease wt Allele; Mitochondrial RNA-Processing Endoribonuclease RNA Gene; NME1;

NCIt definition : Human RMRP wild-type allele is located in the vicinity of 9p13.3 and is approximately 1 kb in length. This allele, which encodes RNA component of mitochondrial RNA processing endoribonuclease, is involved in mitochondrial RNA cleavage. Mutations in the gene are associated with cartilage-hair hypoplasia (CHH), anauxetic dysplasia 1 and metaphyseal dysplasia without hypotrichosis.;

NCI Metathesaurus CUI : CL1642413;

GenBank Accession Number : M29916;

Details

Origin ID

C176584;

UMLS CUI

C5444338;

Automatic exact mappings (from CISMeF team)
- Cartilage-hair hypoplasia [OMIM Phenotype]
- Mitochondrial rna-processing endoribonuclease, rna component of [OMIM gene]
- Nme/nm23 nucleoside diphosphate kinase 1 [OMIM gene]
- RNA component of mitochondrial RNA processing endoribonuclease [ORDO Gene]
- cartilage-hair hypoplasia [DO Concept]
- hypothalamo-hypophyseal system [MeSH Descriptor]
OMIM relation
- Mitochondrial rna-processing endoribonuclease, rna component of [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- DNA Replication [NCIt concept]
- Hydrolysis [NCIt concept]
- RNA Processing [NCIt concept]

Keyword's position in hierarchy(ies) :

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