has material basis in germline mutation in RMRP skeletal system disorder autosomal recessive disease cartilage-hair hypoplasia https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6751 https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia https://www.malacards.org/card/cartilage_hair_hypoplasia autosomal recessive metaphyseal chondrodysplasia OMIM:250250 GARD:0006996 metaphyseal chondrodysplasia McKusick type Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth. CHH MEDGEN:67398 NORD:1414 cartilage hair hypoplasia Orphanet:175 cartilage-hair hypoplasia MONDO:0009595 metaphyseal chondrodysplasia, McKusick type NCIT:C61245 McKusick Type Metaphyseal Chondrodysplasia MedDRA:10069596 UMLS:C0220748 DOID:14773 icd11.foundation:469051294 MESH:C535916 SCTID:7720002 cartilage hair hypoplasia like syndrome immuno-osseous dysplasia ectodermal dysplasia syndrome