Cartilage-hair hypoplasia

Synonym(s)
- Cartilage-hair hypoplasia,
- metaphyseal dysplasia without hypotrichosis,
- anauxetic dysplasia type 1
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- RMRP / RNA Component Of Mitochondrial RNA Processing Endoribonuclease
  9p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial RNA processing ribonuclease
Disease group(s)
- 16.5 Other disorders of ribosomal biogenesis
Child entries
- Anauxetic dysplasia type 1