Normophosphatemic familial tumoral calcinosis
- Synonyms
- CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (21 available)
Clinical features
Help- Abnormality of head or neck
- Gingivitis
Gingivitis
- MedGen UID: 4895
- Concept ID: C0017574
- Finding: Disease or Syndrome
Abnormality of head or neck
- Gingivitis
- Abnormality of metabolism/homeostasis
- Abnormal blood phosphate concentration
Abnormal blood phosphate concentration
- MedGen UID: 867643
- Concept ID: C4022032
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormal circulating calcium concentration
Abnormal circulating calcium concentration
- MedGen UID: 868059
- Concept ID: C4022450
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormality of vitamin D metabolism
Abnormality of vitamin D metabolism
- MedGen UID: 867646
- Concept ID: C4022035
- Finding: Finding
Abnormality of metabolism/homeostasis
- Decreased circulating parathyroid hormone level
Decreased circulating parathyroid hormone level
- MedGen UID: 1630961
- Concept ID: C0729198
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormal blood phosphate concentration
- Abnormality of the immune system
- Conjunctivitis
Conjunctivitis
- MedGen UID: 1093
- Concept ID: C0009763
- Finding: Disease or Syndrome
Abnormality of the immune system
- Conjunctivitis
- Abnormality of the musculoskeletal system
- Calcinosis cutis
Calcinosis cutis
- MedGen UID: 472879
- Concept ID: C0006664
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Calcinosis cutis
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