Metaphyseal Chondrodysplasia, McKusick Type
| Disease Aliases (15) | Autosomal recessive metaphyseal chondrodysplasia Chh Cartilage hair syndrome Cartilage hair hypoplasia like syndrome Cartilage-hair hypoplasia Cartilage-hair hypoplasia syndrome Metaphyseal chondrodysplasia, mckusick type Mckusick metaphyseal chondrodysplasia syndrome Mckusick type metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, recessive type Metaphyseal chondrodysplasia mckusick type Cartilage hair hypoplasia Cartilage-hair hypoplasia; chh |
Associated Genes (1) NCBI-RefSeq: RMRP (RNA component of mitochondrial RNA processing endoribonuclease) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Metaphyseal chondrodysplasia, McKusick type | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |