Maturation defect
|
phenotype |
|
Acquired Abnormality
|
43
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Malar flattening
|
disease |
|
Anatomical Abnormality
|
190
|
12
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the gingiva
|
disease |
|
Anatomical Abnormality
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
3 |
2
|
2012 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
3 |
2
|
2012 |
2017 |
Venous malformation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
38
|
3
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
Congenital abnormality of vein
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
39
|
7
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Monosomy
|
group |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
214
|
11
|
0.010 |
None |
< 0.001 |
1 |
|
2000 |
2000 |
Aganglionosis, Colonic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
36
|
11
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cerebellar Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Congenital Abnormality
|
226
|
26
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital bilateral aplasia of vas deferens
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
27
|
210
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Congenital vascular anomaly
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
42
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Nail dysplasia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
78
|
2
|
0.100 |
None |
|
0 |
|
|
|
HSAN Type IV
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
32
|
0.800 |
None |
1.000 |
58 |
32
|
1996 |
2020 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.080 |
None |
1.000 |
8 |
2
|
1996 |
2020 |
Mastocytosis
|
disease |
Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
98
|
8
|
0.070 |
None |
1.000 |
7 |
|
2001 |
2019 |
C-cell hyperplasia of thyroid
|
disease |
Pathological Conditions, Signs and Symptoms; Endocrine System Diseases
|
Disease or Syndrome
|
35
|
16
|
0.070 |
None |
1.000 |
7 |
|
2000 |
2016 |
Congenital Pain Insensitivity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
14
|
|
0.350 |
None |
1.000 |
6 |
|
2001 |
2017 |
Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
384
|
162
|
0.050 |
None |
1.000 |
5 |
|
1998 |
2013 |
Indifference to Pain, Congenital, Autosomal Recessive
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
23
|
11
|
0.050 |
None |
1.000 |
5 |
|
2005 |
2017 |
Anhidrosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
37
|
2
|
0.140 |
None |
1.000 |
4 |
|
1999 |
2017 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.220 |
None |
1.000 |
3 |
|
2005 |
2013 |
Periodontitis
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
682
|
116
|
0.220 |
None |
1.000 |
3 |
|
2008 |
2019 |