Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Marble bone 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
Dental problems
Frequent (30-79%)HP:0000164
Distal renal tubular acidosis
Frequent (30-79%)HP:0008341
Elevated serum acid phosphatase
Frequent (30-79%)HP:0003148
Elevated serum creatine phosphokinase
Frequent (30-79%)HP:0003236
Increased fracture rate
Frequent (30-79%)HP:0002757
Low blood calcium levels
Frequent (30-79%)HP:0002901
Malformation of face
Frequent (30-79%)HP:0001999
Mental and motor retardation
Frequent (30-79%)HP:0001263
Proximal tubular acidosis
Frequent (30-79%)HP:0002049
Abnormal retinal morphology
Occasional (5-29%)HP:0000479
Abnormality of the periventricular white matter
Occasional (5-29%)HP:0002518
Bulging forehead
Occasional (5-29%)HP:0011220
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 projection of lower jaw
Occasional (5-29%)HP:0000347
Delayed loss of deciduous teeth
Occasional (5-29%)HP:0006335
Dull intelligence
Occasional (5-29%)HP:0001249
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
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.