RETINITIS PIGMENTOSA 74
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.700 |
None |
1.000 |
1 |
8
|
2015 |
2015 |
BARDET-BIEDL SYNDROME 1/2, DIGENIC
|
disease |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Bardet-Biedl syndrome 2 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
53
|
0.910 |
None |
1.000 |
34 |
53
|
2001 |
2019 |
BARDET-BIEDL SYNDROME 2/6, DIGENIC
|
disease |
|
Finding
|
2
|
5
|
0.100 |
None |
|
0 |
2
|
|
|
Bardet-Biedl syndrome 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
7
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hydrometrocolpos
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
7
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Posterior polar cataract
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Acrocallosal Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
9
|
22
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Kaufman-McKusick syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
10
|
6
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
|
disease |
|
Disease or Syndrome
|
14
|
|
0.200 |
None |
1.000 |
1 |
|
2004 |
2004 |
Ablepharon
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
20
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Bardet-Biedl syndrome 1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
65
|
0.300 |
strong |
|
0 |
|
|
|
Encephalocele
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
|
Congenital Abnormality
|
23
|
7
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Melanocortin 4 Receptor Deficiency
|
phenotype |
|
Finding
|
24
|
28
|
0.100 |
None |
|
0 |
2
|
|
|
Medial flaring of the eyebrow
|
disease |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
External genital hypoplasia
|
phenotype |
|
Finding
|
29
|
2
|
0.100 |
None |
|
0 |
|
|
|
obsolete Rod-cone dystrophy
|
disease |
|
Disease or Syndrome
|
29
|
41
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital hypoplasia of ovary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Postaxial foot polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
45
|
4
|
0.100 |
None |
|
0 |
|
|
|
Cone Dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
48
|
31
|
0.100 |
None |
|
0 |
1
|
|
|
Gastrinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
49
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Diastrophic dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
56
|
63
|
0.100 |
None |
|
0 |
1
|
|
|
Keratosis Follicularis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
57
|
21
|
0.100 |
None |
|
0 |
1
|
|
|
Visual field constriction
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
57
|
1
|
0.100 |
None |
|
0 |
|
|
|
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |