connective tissue disorder due to lysyl hydroxylase-3 deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0012892


Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. [ Orphanet:300284 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:763318007 (MONDO:equivalentTo)
  • Orphanet:300284 (OMIM:612394)
  • OMIM:612394 (Orphanet:300284)
  • UMLS:C2676285 (Orphanet:300284)
  • MESH:C567320 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.

exactMatch

http://identifiers.org/omim/612394

http://www.orpha.net/ORDO/Orphanet_300284

http://identifiers.org/mesh/C567320

http://identifiers.org/snomedct/763318007

http://linkedlifedata.com/resource/umls/id/C2676285

has exact synonym

bone fragility-contractures-arterial rupture-deafness syndrome

connective tissue disorder due to LH3 deficiency

has related synonym

bone fragility with contractures, arterial rupture, and deafness

lysyl Hydroxylase 3 deficiency

LH3 deficiency

id

MONDO:0012892