Hypochondroplasia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
16
|
42
|
0.800 |
None |
0.972 |
72 |
23
|
1995 |
2020 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
20
|
18
|
0.800 |
None |
1.000 |
78 |
16
|
1994 |
2019 |
Thanatophoric dysplasia, type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
11
|
17
|
0.800 |
strong |
0.941 |
17 |
15
|
1995 |
2018 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.200 |
None |
0.975 |
81 |
13
|
1995 |
2017 |
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
46
|
21
|
1.000 |
definitive |
0.974 |
152 |
12
|
1994 |
2020 |
Malignant neoplasm of urinary bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2113
|
316
|
0.800 |
None |
0.979 |
94 |
10
|
1999 |
2019 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.200 |
None |
1.000 |
42 |
10
|
1994 |
2019 |
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 |
6 |
10
|
1995 |
2016 |
Thanatophoric Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
12
|
10
|
0.600 |
None |
1.000 |
66 |
9
|
1995 |
2019 |
Seborrheic keratosis
|
disease |
Skin and Connective Tissue Diseases
|
Neoplastic Process
|
44
|
21
|
0.500 |
None |
1.000 |
17 |
9
|
2005 |
2018 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
3
|
9
|
0.800 |
None |
1.000 |
15 |
9
|
1996 |
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
|
5
|
33
|
0.720 |
None |
1.000 |
5 |
9
|
1995 |
2017 |
Carcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2462
|
103
|
0.200 |
None |
1.000 |
34 |
8
|
1998 |
2019 |
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 |
16 |
8
|
1994 |
2018 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.660 |
None |
1.000 |
6 |
8
|
2000 |
2018 |
Carcinoma of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2104
|
309
|
0.500 |
None |
0.979 |
94 |
7
|
2001 |
2019 |
Muenke Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
11
|
1.000 |
None |
1.000 |
27 |
7
|
1994 |
2019 |
NEVUS, EPIDERMAL (disorder)
|
disease |
Neoplasms
|
Disease or Syndrome
|
14
|
17
|
0.690 |
None |
1.000 |
9 |
7
|
2006 |
2017 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.200 |
None |
0.978 |
138 |
6
|
1995 |
2019 |
Cervix carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1881
|
283
|
0.460 |
None |
1.000 |
6 |
6
|
2001 |
2019 |
Malignant neoplasm of testis
|
disease |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
|
Neoplastic Process
|
253
|
31
|
0.100 |
None |
|
0 |
6
|
|
|
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.200 |
None |
1.000 |
21 |
5
|
1999 |
2018 |
Acanthosis Nigricans
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
64
|
11
|
0.200 |
None |
1.000 |
24 |
4
|
1996 |
2019 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.200 |
None |
1.000 |
22 |
4
|
1999 |
2018 |
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
4
|
|
|