DEAFNESS, X-LINKED 6
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
limited |
1.000 |
3 |
1
|
1998 |
2015 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cochlear malformation
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Fibromuscular Dysplasia
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
47
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Alport Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
51
|
314
|
0.100 |
None |
0.895 |
19 |
3
|
1994 |
2019 |
Alport Syndrome, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
8
|
0.060 |
None |
0.667 |
6 |
|
1995 |
2014 |
Alport Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
8
|
2
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Leiomyomatosis, esophageal and vulval, with nephropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
2
|
|
0.510 |
None |
1.000 |
3 |
|
1998 |
2013 |
X-linked hydrocephalus syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
20
|
24
|
0.020 |
None |
1.000 |
2 |
|
1998 |
1999 |
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2969
|
688
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Colorectal Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1296
|
609
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Colon Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2832
|
275
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.300 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.010 |
None |
< 0.001 |
1 |
|
2014 |
2014 |
Spontaneous abortion
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
188
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Abortion, Tubal
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
109
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Early Pregnancy Loss
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
109
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Miscarriage
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
426
|
56
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.030 |
None |
0.667 |
3 |
|
1995 |
2014 |
Kidney Failure
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
378
|
36
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Diffuse leiomyomatosis
|
disease |
Neoplasms
|
Neoplastic Process
|
2
|
|
0.080 |
None |
0.875 |
8 |
|
1997 |
2013 |