Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Connective tissue disorder due to lysyl hydroxylase-3 deficiency (disorder)

active

Code	`763318007`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20180731

Synonyms

Bone fragility, contractures, arterial rupture, deafness syndrome
Bone fragillity, contractures, arterial rupture, deafness syndrome
Connective tissue disorder due to LH3 deficiency

Parents (5)

85995004Autosomal recessive hereditary disorder disorder
8447006Congenital anomaly of skeletal bone disorder
363070008Developmental hereditary disorder disorder
363212003Hereditary disorder of musculoskeletal system disorder
65094009Multiple malformation syndrome with facial defects as major feature disorder

Children (0)

None (leaf concept).