Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ketonaciduria
Always present (100%)HP:0002919
Low blood calcium levels
Always present (100%)HP:0002901
Low serum 1,25-dihydroxyvitamin D3
Always present (100%)HP:0012052
Low urine calcium levels
Always present (100%)HP:0003127
Metabolic acidosis
Always present (100%)HP:0001942
Metaphyseal cupping
Always present (100%)HP:0003021
Recurrent fractures
Always present (100%)HP:0002757
Reduced subcutaneous adipose tissue
Always present (100%)HP:0003758
Tubular phosphate reabsorption low
Always present (100%)HP:0000117
Weak and soft bones
Always present (100%)HP:0002748
Bone pain
Very frequent (80-99%)HP:0002653
Deformed rib cage
Very frequent (80-99%)HP:0000886
Delayed motor milestones
Very frequent (80-99%)HP:0001270
Elevated alkaline phosphatase of bone origin
Very frequent (80-99%)HP:0010639
Enlargement of the ankles
Very frequent (80-99%)HP:0003029
Enlargement of the wrists
Very frequent (80-99%)HP:0003020
Epiphyseal ossification delay
Very frequent (80-99%)HP:0002663
Generalised nonspecific aminoaciduria
Very frequent (80-99%)HP:0002909
Genua vara
Very frequent (80-99%)HP:0002970
Growth delay as children
Very frequent (80-99%)HP:0008897
Hypophosphataemia
Very frequent (80-99%)HP:0002148
Increased serum parathyroid hormone
Very frequent (80-99%)HP:0003165
Increased susceptibility to fractures
Very frequent (80-99%)HP:0002659
Intermittent involuntary muscle spasm
Very frequent (80-99%)HP:0001281
Irregular, rachitic-like metaphyses
Very frequent (80-99%)HP:0005042
Muscle weakness
Very frequent (80-99%)HP:0001324
open cranial sutures
Very frequent (80-99%)HP:0010537
Osteomalacia
Very frequent (80-99%)HP:0002749
Poor weight gain
Very frequent (80-99%)HP:0001508
Posterior flattening of the skull
Very frequent (80-99%)HP:0005469
Related Conditions
Quick Facts
- SNOMED CT
- 67049004
- UMLS CUI
- C0268689
- Fully Specified Name
- Vitamin D-dependent rickets, type 1 (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.