Osteopetrosis, Autosomal Recessive 1
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
44
|
0.900 |
strong |
1.000 |
24 |
44
|
1985 |
2015 |
Albers-Schonberg Disease, Autosomal Recessive
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
|
0.500 |
None |
1.000 |
6 |
|
1985 |
2015 |
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
26
|
0.400 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Infantile malignant osteopetrosis
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
13
|
|
0.390 |
None |
1.000 |
12 |
|
2000 |
2018 |
Osteopetrosis, Autosomal Recessive 6
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
2 |
|
2014 |
2015 |
Osteopetrosis - intermediate type
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
2 |
|
2014 |
2015 |
Osteopetrosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
74
|
5
|
0.200 |
None |
1.000 |
17 |
|
2002 |
2019 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.200 |
None |
|
0 |
|
|
|
Congenital neutropenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
68
|
11
|
0.120 |
None |
1.000 |
2 |
1
|
2014 |
2016 |
Idiopathic pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
776
|
24
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.110 |
None |
1.000 |
1 |
|
2006 |
2006 |
Autosomal Recessive Osteopetrosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
3
|
0.100 |
None |
1.000 |
18 |
|
2000 |
2020 |
Abnormal visual evoked potential
|
phenotype |
Nervous System Diseases
|
Finding
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Recurrent ear infections
|
group |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ophthalmoparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
61
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Recurrent viral infection
|
phenotype |
Infections
|
Finding
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Serum alkaline phosphatase raised
|
phenotype |
|
Finding
|
67
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of temperature regulation
|
phenotype |
|
Finding
|
19
|
3
|
0.100 |
None |
|
0 |
|
|
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
879
|
168
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Lymphadenopathy
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
277
|
5
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Premature tooth loss
|
phenotype |
Stomatognathic Diseases
|
Finding
|
25
|
|
0.100 |
None |
|
0 |
|
|
|