has material basis in germline mutation in disease has feature TMEM165 Reduced bone mineral density congenital disorder of glycosylation type II TMEM165-congenital disorder of glycosylation https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_iik UMLS:C3553571 CDG-IIk DOID:0070263 TMEM165-CDG (CDG-IIk) TMEM165-congenital disorder of glycosylation congenital disorder of glycosylation, type IIk TMEM165-CDG carbohydrate deficient glycoprotein syndrome type IIk TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12). CDG syndrome type IIk MEDGEN:766485 Orphanet:314667 SCTID:732252005 congenital disorder of glycosylation type IIk congenital disorder of glycosylation type 2k CDG IIk CDG2K GARD:0012413 OMIM:614727 MONDO:0013870 spondyloepiphyseal dysplasia disorder of protein N-glycosylation obsolete primary bone dysplasia with decreased bone density