Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Albers-Schonberg disease
Very frequent (80-99%)HP:0011002
Renal tubular acidosis
Very frequent (80-99%)HP:0001947
Abnormal deposits of calcium in the brain
Frequent (30-79%)HP:0002514
Basal ganglion calcification
Frequent (30-79%)HP:0002135
Cranial nerve compression
Frequent (30-79%)HP:0001293
Decreased body height
Frequent (30-79%)HP:0004322
Deformity of face
Frequent (30-79%)HP:0001999
Dental anomalies
Frequent (30-79%)HP:0000164
Distal renal tubular acidosis
Frequent (30-79%)HP:0008341
Elevated circulating creatine phosphokinase
Frequent (30-79%)HP:0003236
Elevated serum acid phosphatase
Frequent (30-79%)HP:0003148
Low blood calcium levels
Frequent (30-79%)HP:0002901
Proximal tubular acidosis
Frequent (30-79%)HP:0002049
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Varying degree of multiple fractures
Frequent (30-79%)HP:0002757
Abnormality of position of teeth
Occasional (5-29%)HP:0000692
Abnormality of the periventricular white matter
Occasional (5-29%)HP:0002518
Cranial nerve paralysis
Occasional (5-29%)HP:0006824
Craniofacial disproportion
Occasional (5-29%)HP:0005461
Decreased amniotic fluid index
Occasional (5-29%)HP:0001562
Decreased haemoglobin
Occasional (5-29%)HP:0001903
Delayed loss of deciduous teeth
Occasional (5-29%)HP:0006335
Elliptocytosis
Occasional (5-29%)HP:0004445
Enlarged liver
Occasional (5-29%)HP:0002240
Full lower lip
Occasional (5-29%)HP:0000179
Grey sclerae
Occasional (5-29%)HP:0000592
High arched palate
Occasional (5-29%)HP:0000218
Hydronephrosis
Occasional (5-29%)HP:0000126
Hypoplastic bone marrow
Occasional (5-29%)HP:0005528
Quick Facts
- SNOMED CT
- 254122007
- UMLS CUI
- C0345407
- Fully Specified Name
- Osteopetrosis with renal tubular acidosis (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.