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Autosomal dominant osteosclerosis

disorder
SNOMED 254131007CUI C0432273

Overview

Autosomal dominant osteosclerosis is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal compact bone morphology
Very frequent (80-99%)HP:0003103
Clavicular sclerosis
Very frequent (80-99%)HP:0100923
Enlargement of craniofacial bones
Very frequent (80-99%)HP:0004493
Increased bone density in skeletal bones
Very frequent (80-99%)HP:0005789
Maxillary torus
Very frequent (80-99%)HP:0100789
Rib anomalies
Very frequent (80-99%)HP:0000772
Thickening of shaft or central part of long bones
Very frequent (80-99%)HP:0005019
Abnormal vertebral bodies
Frequent (30-79%)HP:0003312
Facial palsy
Occasional (5-29%)HP:0010628
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Mandibular hyperplasia
Occasional (5-29%)HP:0000303
Sensorineural deafness
Occasional (5-29%)HP:0000407
Abnormality of body height
Excluded (<1%)HP:0000002
Abnormality of pelvic girdle bone morphology
HP:0002644
Angle class 2 malocclusion
HP:0000689
Bone overgrowth
HP:0100774
Broad cortex of long bones
HP:0000935
Flat forehead
HP:0004425
Growth abnormality
HP:0001507
Metacarpal diaphyseal endosteal sclerosis
HP:0006174
Metatarsal diaphyseal endosteal sclerosis
HP:0008114
Sclerotic vertebral body
HP:0100861

Quick Facts

SNOMED CT
254131007
UMLS CUI
C0432273
Fully Specified Name
Worth disease (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
22
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.