rhizomelic dysplasia, Patterson-Lowry type https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://rarediseases.info.nih.gov/diseases/4703/rhizomelic-dysplasia-patterson-lowry-type https://www.malacards.org/card/rhizomelic_dysplasia_patterson_lowry_type_2 MESH:C537609 MEDGEN:321940 MONDO:0011079 Patterson Lowry syndrome OMIM:601438 rhizomelic dysplasia Patterson Lowry type UMLS:C1832359 SCTID:715505002 icd11.foundation:1681747199 Orphanet:2831 rhizomelic dysplasia, Patterson-Lowry type Patterson-Lowry rhizomelic dysplasia Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia. GARD:0004703 skeletal dysplasia