myosclerosis https://github.com/monarch-initiative/mondo/issues/2361 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/myosclerosis https://www.malacards.org/card/myosclerosis_autosomal_recessive congenital myosclerosis, LC6wenthal type MedDRA:10064584 icd11.foundation:2105106550 GARD:0027790 MEDGEN:338098 Orphanet:289380 MONDO:0009714 congenital myosclerosis, Löwenthal type UMLS:C1850671 OMIM:255600 MESH:C564968 Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. 2024-05-01 myosclerosis, congenital SCTID:763895001 collagen 6-related myopathy hereditary neurological disease hereditary skeletal muscle disorder obsolete_myosclerosis