Hypophosphatemic rickets, autosomal recessive, 2
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (40 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Carious teeth
Carious teeth
- MedGen UID: 8288
- Concept ID: C0011334
- Finding: Disease or Syndrome
Abnormality of head or neck
- Hypoplasia of teeth
Hypoplasia of teeth
- MedGen UID: 852449
- Concept ID: C0235357
- Finding: Congenital Abnormality
Abnormality of head or neck
- Carious teeth
- Abnormality of limbs
- Coxa valga
Coxa valga
- MedGen UID: 116080
- Concept ID: C0239137
- Finding: Finding
Abnormality of limbs
- Genu valgum
Genu valgum
- MedGen UID: 154364
- Concept ID: C0576093
- Finding: Anatomical Abnormality
Abnormality of limbs
- Genu varum
Genu varum
- MedGen UID: 154257
- Concept ID: C0544755
- Finding: Finding
Abnormality of limbs
- Coxa valga
- 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
- Elevated circulating alkaline phosphatase concentration
- Abnormality of the cardiovascular system
- Pulmonic stenosis
Pulmonic stenosis
- MedGen UID: 408291
- Concept ID: C1956257
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Pulmonic stenosis
- Abnormality of the genitourinary system
- Hyperphosphaturia
Hyperphosphaturia
- MedGen UID: 78638
- Concept ID: C0268079
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Medullary nephrocalcinosis
Medullary nephrocalcinosis
- MedGen UID: 588418
- Concept ID: C0403477
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hyperphosphaturia
- Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypophosphatemic rickets
Hypophosphatemic rickets
- MedGen UID: 309957
- Concept ID: C1704375
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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