Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abdominal protuberance
Always present (100%)HP:0001538
Bulbous nasal tip
Always present (100%)HP:0000414
Cryptorchidism, bilateral
Always present (100%)HP:0008689
Fine hair
Always present (100%)HP:0002213
Flat, discolored area of skin
Always present (100%)HP:0012733
Foot, talipes equinovarus
Always present (100%)HP:0001762
Increased width of bridge of nose
Always present (100%)HP:0000431
Inverted triangular face
Always present (100%)HP:0000325
Nephrosis
Always present (100%)HP:0000100
Pyrexia
Always present (100%)HP:0001945
Abnormal lymphocyte physiology
Very frequent (80-99%)HP:0031409
Abnormality of the femoral head
Very frequent (80-99%)HP:0003368
Decreased body height
Very frequent (80-99%)HP:0004322
Focal and segmental glomerulosclerosis
Very frequent (80-99%)HP:0000097
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Kidney damage
Very frequent (80-99%)HP:0000112
Abdominal swelling
Frequent (30-79%)HP:0003270
Abnormal naive CD4-positive T cell proportion
Frequent (30-79%)HP:0410373
Abnormal thyroid function
Frequent (30-79%)HP:0002926
Absolute lymphocyte count decrease
Frequent (30-79%)HP:0001888
Brain and/or spinal cord issue
Frequent (30-79%)HP:0000707
Broad, upturned nose
Frequent (30-79%)HP:0000455
Bullet vertebral body
Frequent (30-79%)HP:0003300
Cerebral vascular events
Frequent (30-79%)HP:0001297
Cerebrovascular ischemia
Frequent (30-79%)HP:0002637
Decreased haemoglobin
Frequent (30-79%)HP:0001903
Decreased serum immunoglobulin
Frequent (30-79%)HP:0004313
Decreased width of tooth
Frequent (30-79%)HP:0000691
Deformity of face
Frequent (30-79%)HP:0001999
Difficulty breathing
Frequent (30-79%)HP:0002094
Related Conditions
Glomerulonephritis(parent)
Recessive hereditary disorder (autosomal)(parent)
Immuno-osseous dysplasia(parent)
Hereditary disorder of immune system(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary nephropathy(parent)
Developmental hereditary disorder(parent)
Genetic disease of glomerulus(parent)
Quick Facts
- SNOMED CT
- 723995003
- UMLS CUI
- C0877024
- Fully Specified Name
- Schimke immuno-osseous dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.