has material basis in germline mutation in MAP2K1 melorheostosis https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/9474/melorheostosis https://www.malacards.org/card/melorheostosis https://www.malacards.org/card/melorheostosis_isolated SCTID:44697002 NANDO:2201364 OMIM:155950 NCIT:C84887 MESH:D008557 UMLS:C3149631 Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities. icd11.foundation:312433776 GARD:0009474 MONDO:0007970 NORD:1431 MedDRA:10050284 ICD9:756.89 Orphanet:2485 melorheostosis, isolated, somatic mosaic DOID:4253 MEDGEN:460981 osteopetrosis