has material basis in germline mutation in TONSL spondyloepimetaphyseal dysplasia, sponastrime type https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 https://rarediseases.info.nih.gov/diseases/4970/spondyloepimetaphyseal-dysplasia-sponastrime-type https://www.malacards.org/card/spondyloepimetaphyseal_dysplasia_sponastrime_type_2 A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation. spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia DOID:5684 UMLS:C1300260 Orphanet:93357 short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation spondyloepimetaphyseal dysplasia Sponastrime type spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510 spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia GARD:0004970 MONDO:0010068 SCTID:389161008 sponastrime dysplasia MESH:C535786 MEDGEN:266247 spondyloepimetaphyseal dysplasia, Sponastrime type ICD9:756.9 NCIT:C129031 spondyloepiphyseal dysplasia spondyloepimetaphyseal dysplasia