Brachytelephalangic Chondrodysplasia Punctata
|
disease |
|
Disease or Syndrome
|
7
|
11
|
0.630 |
strong |
1.000 |
6 |
11
|
1995 |
2013 |
X-Linked Chondrodysplasia Punctata 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
|
0.510 |
strong |
1.000 |
2 |
|
1995 |
2008 |
Chondrodysplasia Punctata
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
1
|
0.400 |
strong |
0.875 |
16 |
1
|
1995 |
2017 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
1
|
2001 |
2001 |
Height
|
phenotype |
|
Organism Attribute
|
249
|
517
|
0.100 |
None |
1.000 |
2 |
1
|
2011 |
2012 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
2 |
1
|
2011 |
2012 |
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Short distal phalanx of finger
|
phenotype |
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the vertebral column
|
phenotype |
|
Anatomical Abnormality
|
24
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
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 |
|
|
|
Anosmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
40
|
4
|
0.100 |
None |
|
0 |
|
|
|
Ichthyoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
194
|
18
|
0.100 |
None |
|
0 |
|
|
|
Hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
305
|
24
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Short nose
|
phenotype |
|
Finding
|
265
|
23
|
0.100 |
None |
|
0 |
|
|
|
Stippled epiphyses
|
phenotype |
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short nasal septum
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Turner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
162
|
21
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2014 |
Severe Sepsis
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
181
|
29
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Heart failure with normal ejection fraction
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
47
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |