Vitamin D hydroxylation-deficient rickets, type 1B
- Synonyms
- PSEUDOVITAMIN D3 DEFICIENCY RICKETS DUE TO 25-HYDROXYLASE DEFICIENCY; VITAMIN D-DEPENDENT RICKETS, TYPE 1B
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (19 available)
Clinical features
Help- Abnormality of limbs
- Enlargement of the ankles
Enlargement of the ankles
- MedGen UID: 333151
- Concept ID: C1838664
- Finding: Finding
Abnormality of limbs
- Enlargement of the wrists
Enlargement of the wrists
- MedGen UID: 325479
- Concept ID: C1838663
- Finding: Finding
Abnormality of limbs
- Fibular bowing
Fibular bowing
- MedGen UID: 869374
- Concept ID: C4023801
- Finding: Anatomical Abnormality
Abnormality of limbs
- Tibial bowing
Tibial bowing
- MedGen UID: 332360
- Concept ID: C1837081
- Finding: Finding
Abnormality of limbs
- Enlargement of the ankles
- Abnormality of metabolism/homeostasis
- Decreased circulating calcifediol concentration
Decreased circulating calcifediol concentration
- MedGen UID: 868662
- Concept ID: C4023064
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating alkaline phosphatase concentration
Elevated circulating alkaline phosphatase concentration
- MedGen UID: 727252
- Concept ID: C1314665
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypocalcemia
Hypocalcemia
- MedGen UID: 5705
- Concept ID: C0020598
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypophosphatemia
Hypophosphatemia
- MedGen UID: 39327
- Concept ID: C0085682
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Decreased circulating calcifediol concentration
- Abnormality of the musculoskeletal system
- Bowing of the legs
Bowing of the legs
- MedGen UID: 1807399
- Concept ID: C5574706
- Finding: Finding
Abnormality of the musculoskeletal system
- Bulging epiphyses
Bulging epiphyses
- MedGen UID: 371540
- Concept ID: C1833329
- Finding: Finding
Abnormality of the musculoskeletal system
- Bulging of the costochondral junction
Bulging of the costochondral junction
- MedGen UID: 338492
- Concept ID: C1848538
- Finding: Finding
Abnormality of the musculoskeletal system
- Deformed rib cage
Deformed rib cage
- MedGen UID: 374021
- Concept ID: C1838659
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Delayed epiphyseal ossification
Delayed epiphyseal ossification
- MedGen UID: 351324
- Concept ID: C1865200
- Finding: Finding
Abnormality of the musculoskeletal system
- Difficulty standing
Difficulty standing
- MedGen UID: 69136
- Concept ID: C0241237
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Enlargement of the costochondral junction
Enlargement of the costochondral junction
- MedGen UID: 346535
- Concept ID: C1857180
- Finding: Finding
Abnormality of the musculoskeletal system
- Femoral bowing
Femoral bowing
- MedGen UID: 347888
- Concept ID: C1859461
- Finding: Finding
Abnormality of the musculoskeletal system
- Flat occiput
Flat occiput
- MedGen UID: 332439
- Concept ID: C1837402
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Metaphyseal irregularity
Metaphyseal irregularity
- MedGen UID: 325478
- Concept ID: C1838662
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Recurrent fractures
Recurrent fractures
- MedGen UID: 42094
- Concept ID: C0016655
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Rickets
Rickets
- MedGen UID: 48470
- Concept ID: C0035579
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Sparse bone trabeculae
Sparse bone trabeculae
- MedGen UID: 371538
- Concept ID: C1833324
- Finding: Finding
Abnormality of the musculoskeletal system
- Thin bony cortex
Thin bony cortex
- MedGen UID: 318844
- Concept ID: C1833325
- Finding: Finding
Abnormality of the musculoskeletal system
- Widely patent fontanelles and sutures
Widely patent fontanelles and sutures
- MedGen UID: 336570
- Concept ID: C1849300
- Finding: Finding
Abnormality of the musculoskeletal system
- Bowing of the legs
- Abnormality of the nervous system
- Gait disturbance
Gait disturbance
- MedGen UID: 107895
- Concept ID: C0575081
- Finding: Finding
Abnormality of the nervous system
- Gait disturbance
- Constitutional symptom
- Bone pain
Bone pain
- MedGen UID: 57489
- Concept ID: C0151825
- Finding: Sign or Symptom
Constitutional symptom
- Bone pain
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Failure to thrive
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