Chondrodysplasia punctata, X-linked dominant type
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
9
|
39
|
1.000 |
strong |
1.000 |
31 |
39
|
1983 |
2019 |
MEND SYNDROME
|
disease |
|
Disease or Syndrome
|
3
|
4
|
0.730 |
None |
1.000 |
8 |
4
|
2003 |
2019 |
Chondrodysplasia Punctata
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
1
|
0.600 |
None |
1.000 |
11 |
|
1990 |
2017 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.400 |
strong |
1.000 |
1 |
|
2003 |
2003 |
2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity
|
phenotype |
|
Molecular Function
|
1
|
|
0.300 |
strong |
|
0 |
|
|
|
Calcinosis universalis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
|
0.210 |
None |
1.000 |
1 |
|
2004 |
2004 |
Brachytelephalangic Chondrodysplasia Punctata
|
disease |
|
Disease or Syndrome
|
7
|
11
|
0.200 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.120 |
None |
1.000 |
2 |
|
2015 |
2015 |
Dandy-Walker Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
137
|
9
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.110 |
None |
1.000 |
1 |
|
2007 |
2007 |
Aortic Valve Stenosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
234
|
19
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ichthyoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
194
|
18
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Ichthyosiform Erythroderma, Congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
31
|
11
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.100 |
None |
0.970 |
33 |
|
1997 |
2020 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.941 |
17 |
|
1996 |
2017 |
Prominent nasal bridge
|
phenotype |
|
Finding
|
180
|
8
|
0.100 |
None |
|
0 |
|
|
|
Hand polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
75
|
1
|
0.100 |
None |
|
0 |
|
|
|
Polydactyly of toes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
61
|
2
|
0.100 |
None |
|
0 |
|
|
|
Midface retrusion
|
phenotype |
|
Finding
|
228
|
|
0.100 |
None |
|
0 |
|
|
|
Flat face
|
phenotype |
|
Finding
|
83
|
7
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Calcific stippling
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|