isolated osteopoikilosis
MONDO:0015634Mondo
Findings
No curated finding names isolated osteopoikilosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A osteopoikilosis (disease) that is not part of a larger syndrome.
Definition from the Mondo Disease Ontology (MONDO:0015634), read 2026-09-29. CC BY 4.0.
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal bone ossificationHPOHP:0011849
- Very frequent (80% to 99% of cases)
- Abnormality of limb boneHPOHP:0040068
- Very frequent (80% to 99% of cases)
- Increased bone mineral densityHPOHP:0011001
- Very frequent (80% to 99% of cases)
- Abnormal long bone morphologyHPOHP:0011314
- Frequent (30% to 79% of cases)
- Abnormal pelvis bone morphologyHPOHP:0040163
- Frequent (30% to 79% of cases)
- Abnormal pelvis bone ossificationHPOHP:0009106
- Frequent (30% to 79% of cases)
- HyperostosisHPOHP:0100774
- Frequent (30% to 79% of cases)
- Sclerosis of foot boneHPOHP:0100925
- Frequent (30% to 79% of cases)
- Sclerotic foci in hand bonesHPOHP:0004289
- Frequent (30% to 79% of cases)
- Abnormal femur morphologyHPOHP:0002823
- Occasional (5% to 29% of cases)
- Abnormally ossified vertebraeHPOHP:0100569
- Occasional (5% to 29% of cases)
- Addictive alcohol useHPOHP:0030955
- Occasional (5% to 29% of cases)
Show the remaining 21
- Ankle painHPOHP:0030840
- Occasional (5% to 29% of cases)
- ArthralgiaHPOHP:0002829
- Occasional (5% to 29% of cases)
- Bone painHPOHP:0002653
- Occasional (5% to 29% of cases)
- DacryocystitisHPOHP:0000620
- Occasional (5% to 29% of cases)
- Episodic painHPOHP:0032148
- Occasional (5% to 29% of cases)
- Hip painHPOHP:0030838
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LEMD3HGNC:28887
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: isolated osteopoikilosis
- Also called
- isolated osteopoikilosis (disease)nonsyndromic osteopoikilosis (disease)