Disease association ontology term - MONDO:0013870 - TMEM165-congenital disorder of glycosylation

Term summary

ID

MONDO:0013870

Name

TMEM165-congenital disorder of glycosylation

Ontology or CV name

Disease association

Definition

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).

Parents

• excluded_subClassOf obsolete primary bone dysplasia with decreased bone density (obsolete MONDO:0019704)
• is_a congenital disorder of glycosylation type II
• is_a spondyloepiphyseal dysplasia
• is_a disorder of protein N-glycosylation

Annotation