Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
1
|
9
|
1.000 |
definitive |
0.974 |
13 |
9
|
1994 |
2020 |
Muenke Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
7
|
1.000 |
None |
1.000 |
9 |
7
|
1994 |
2019 |
Hypochondroplasia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1
|
21
|
0.800 |
None |
0.972 |
10 |
21
|
1995 |
2020 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
12
|
0.800 |
None |
1.000 |
9 |
12
|
1994 |
2019 |
Malignant neoplasm of urinary bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
141
|
41
|
0.800 |
None |
0.979 |
6 |
8
|
1999 |
2019 |
Thanatophoric dysplasia, type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
14
|
0.800 |
strong |
0.941 |
4 |
14
|
1995 |
2018 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
1
|
7
|
0.800 |
None |
1.000 |
3 |
7
|
1996 |
2018 |
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
8
|
0.780 |
None |
1.000 |
7 |
8
|
1994 |
2018 |
Lacrimoauriculodentodigital syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
32
|
0.720 |
None |
1.000 |
2 |
9
|
1995 |
2017 |
CATSHL syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
10
|
0.710 |
None |
1.000 |
4 |
10
|
1995 |
2016 |
Multiple Myeloma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Neoplastic Process
|
42
|
760
|
0.700 |
None |
0.971 |
1 |
2
|
1997 |
2019 |
NEVUS, EPIDERMAL (disorder)
|
disease |
Neoplasms
|
Disease or Syndrome
|
5
|
17
|
0.690 |
None |
1.000 |
1 |
7
|
2006 |
2017 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
702
|
856
|
0.660 |
None |
1.000 |
0 |
8
|
2000 |
2018 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
206
|
404
|
0.650 |
None |
1.000 |
0 |
1
|
2013 |
2018 |
Bladder Neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
140
|
3
|
0.600 |
None |
0.981 |
4 |
|
2001 |
2019 |
Thanatophoric Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
1
|
|
0.600 |
None |
1.000 |
1 |
|
1995 |
2019 |
cervical cancer
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
34
|
19
|
0.540 |
None |
1.000 |
1 |
1
|
1999 |
2019 |
Uterine Cervical Neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
35
|
69
|
0.510 |
None |
1.000 |
0 |
|
2005 |
2005 |
Testicular Germ Cell Tumor
|
disease |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
|
Neoplastic Process
|
14
|
71
|
0.500 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Seborrheic keratosis
|
disease |
Skin and Connective Tissue Diseases
|
Neoplastic Process
|
2
|
12
|
0.500 |
None |
1.000 |
1 |
7
|
2005 |
2018 |
Carcinoma of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
18
|
35
|
0.500 |
None |
0.979 |
0 |
6
|
2001 |
2019 |
Adenocarcinoma of large intestine
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
96
|
420
|
0.500 |
None |
|
0 |
|
|
|
Cervix carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
5
|
25
|
0.460 |
None |
1.000 |
0 |
6
|
2001 |
2019 |
Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
4
|
11
|
0.420 |
None |
1.000 |
1 |
|
1998 |
2001 |
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
17
|
18
|
0.410 |
None |
1.000 |
1 |
|
2000 |
2002 |