syndromic disease autosomal recessive disease Schwartz-Jampel syndrome https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/schwartz_jampel_syndrome_type_1_2 MONDO:0009717 Catel-Hempel type dysostosis enchondralis metaepiphysaria Catel-Hempel syndrome MEDGEN:19892 burton skeletal dysplasia NANDO:2200876 NORD:1697 Schwartz-Jampel syndrome Aberfeld syndrome SCTID:29145002 myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies SJS Orphanet:800 A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). Schwartz Jampel Aberfeld syndrome myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities Schwartz Jampel Syndrome osteochondromuscular dystrophy NANDO:2100235 myotonic chondrodystrophy UMLS:C0036391 burton syndrome Osteochondromuscular dystrophy GARD:0000250 Schwartz Jampel syndrome NANDO:1200224 icd11.foundation:1725668060 Schwartz-Jampel-Aberfeld syndrome ICD9:759.89 dysostosis enchondralis metaepiphysaria, Catel-Hempel type NCIT:C35008 ICD10CM:G71.13 progressive muscular dystrophy neuromuscular disease caused by qualitative or quantitative defects of perlecan spondyloepiphyseal dysplasia