TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Peripheral pulmonary vessel aplasia
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Tetra-amelia autosomal recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
2
|
|
0.620 |
moderate |
1.000 |
3 |
|
2004 |
2011 |
Tetraamelia multiple malformations
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Congenital absence of adrenal gland
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Absent external genitalia
|
phenotype |
|
Congenital Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the fallopian tube
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Single naris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Bladder Exstrophy and Epispadias Complex
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
8
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormally ossified vertebrae
|
disease |
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia involving the nose
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia involving the pelvis
|
phenotype |
|
Finding
|
8
|
13
|
0.100 |
None |
|
0 |
|
|
|
Handedness
|
phenotype |
|
Organism Attribute
|
9
|
14
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Lymphoma, Lymphocytic, Intermediate
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Abnormality of the larynx
|
phenotype |
|
Anatomical Abnormality
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the diaphragm
|
phenotype |
|
Anatomical Abnormality
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic pelvis
|
disease |
|
Anatomical Abnormality
|
15
|
2
|
0.100 |
None |
|
0 |
|
|
|
Atresia of vagina
|
disease |
|
Congenital Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the nipples
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Bladder Exstrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
18
|
7
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2015 |
Absence of rib
|
phenotype |
|
Congenital Abnormality
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
Urethral atresia
|
disease |
|
Congenital Abnormality
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Single umbilical artery
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
28
|
5
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the lungs
|
phenotype |
|
Finding
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Tracheal Stenosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|