Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Metopic synostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
28
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Short 5th metacarpal
|
phenotype |
|
Finding
|
10
|
3
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Cafe au lait spots, multiple
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
61
|
13
|
0.100 |
None |
|
0 |
|
|
|
Choroid plexus calcification
|
phenotype |
|
Pathologic Function
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Broad distal phalanx of the thumb
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Low urinary cyclic AMP response to PTH administration
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Irritable Mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
142
|
1
|
0.100 |
None |
|
0 |
|
|
|
Full cheeks
|
phenotype |
|
Finding
|
103
|
4
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Meningioma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
634
|
43
|
0.100 |
None |
|
0 |
|
|
|
Thickened calvaria
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Short metatarsal
|
phenotype |
|
Finding
|
34
|
1
|
0.100 |
None |
|
0 |
|
|
|
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.100 |
None |
|
0 |
|
|
|
Generalized hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
113
|
3
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Short 3rd metacarpal
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Oligomenorrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
37
|
1
|
0.100 |
None |
|
0 |
|
|
|
Premature birth following premature rupture of fetal membranes
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
5
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Isolated cases
|
phenotype |
|
Finding
|
111
|
|
0.100 |
None |
|
0 |
|
|
|
Hypocalcemic seizures
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
11
|
|
0.100 |
None |
|
0 |
|
|
|