Mulibrey Nanism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
7
|
13
|
1.000 |
None |
1.000 |
21 |
13
|
1999 |
2020 |
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.400 |
None |
1.000 |
1 |
|
2004 |
2004 |
Pericardial constriction with growth failure
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Fibrocartilaginous Dysplasia of Bone
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Osteitis Fibrosa Disseminata
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
19
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Fibrocystic Dysplasia of Bone
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Joubert syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
26
|
31
|
0.300 |
strong |
|
0 |
|
|
|
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Nephroblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
586
|
125
|
0.110 |
None |
1.000 |
1 |
|
2006 |
2006 |
Myeloperoxidase Measurement
|
phenotype |
|
Laboratory Procedure
|
15
|
16
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Intelligence
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
645
|
2093
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
response to bronchodilator
|
phenotype |
|
Organism Function
|
131
|
1106
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Reduced tendon reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
121
|
8
|
0.100 |
None |
|
0 |
|
|
|
Long narrow head
|
disease |
|
Congenital Abnormality
|
154
|
26
|
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 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
Myocardial fibrosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Tooth Crowding
|
phenotype |
Stomatognathic Diseases
|
Finding
|
82
|
19
|
0.100 |
None |
|
0 |
|
|
|
Pericardial constriction
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Voice Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
High pitched voice
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|