Trichorhinophalangeal dysplasia type I
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
43
|
0.940 |
None |
1.000 |
18 |
43
|
1999 |
2017 |
Trichorhinophalangeal Syndrome, Type III
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
6
|
14
|
0.700 |
None |
1.000 |
11 |
14
|
2001 |
2017 |
Langer-Giedion Syndrome
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
3
|
0.690 |
None |
1.000 |
10 |
2
|
1995 |
2015 |
Carcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2462
|
103
|
0.310 |
None |
1.000 |
2 |
|
2005 |
2018 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.310 |
None |
1.000 |
2 |
|
2001 |
2009 |
Bone Diseases, Developmental
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
2
|
0.310 |
None |
1.000 |
2 |
|
2002 |
2009 |
Animal Mammary Neoplasms
|
phenotype |
Neoplasms; Animal Diseases
|
Neoplastic Process
|
147
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Carcinoma, Spindle-Cell
|
disease |
Neoplasms
|
Neoplastic Process
|
218
|
5
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Undifferentiated carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
283
|
8
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Mammary Carcinoma, Animal
|
disease |
Neoplasms; Animal Diseases
|
Neoplastic Process
|
144
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Mammary Neoplasms, Experimental
|
phenotype |
Neoplasms
|
Neoplastic Process; Experimental Model of Disease
|
218
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Anaplastic carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
232
|
3
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Carcinomatosis
|
phenotype |
Neoplasms
|
Neoplastic Process
|
186
|
2
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.200 |
None |
1.000 |
14 |
1
|
2004 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.130 |
None |
1.000 |
3 |
|
2015 |
2018 |
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.130 |
None |
1.000 |
3 |
2
|
2001 |
2019 |
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.110 |
None |
1.000 |
2 |
1
|
2013 |
2017 |
Microdontia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
109
|
6
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Trichorhinophalangeal syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
1
|
0.100 |
None |
1.000 |
15 |
1
|
1995 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.100 |
None |
1.000 |
15 |
|
2004 |
2018 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
7 |
5
|
2010 |
2019 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
5 |
1
|
2000 |
2015 |