Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.020 |
None |
0.500 |
2 |
|
2008 |
2010 |
Tn Syndrome
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
4
|
5
|
0.020 |
None |
1.000 |
2 |
|
1993 |
1998 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Menstrual spotting
|
phenotype |
|
Sign or Symptom
|
27
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
ATRIAL SEPTAL DEFECT 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
91
|
16
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1
|
disease |
|
Disease or Syndrome
|
8
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cleft palate with cleft lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
119
|
43
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Clitoral hypoplasia
|
phenotype |
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|
Anteriorly placed anus
|
phenotype |
|
Finding
|
34
|
5
|
0.100 |
None |
|
0 |
|
|
|
Short palm
|
phenotype |
|
Finding
|
110
|
13
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Widely spaced teeth
|
phenotype |
|
Finding
|
71
|
10
|
0.100 |
None |
|
0 |
|
|
|
Bilobate gallbladder
|
disease |
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic feet
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Short metatarsal
|
phenotype |
|
Finding
|
34
|
1
|
0.100 |
None |
|
0 |
|
|
|
Agenesis of maxillary lateral incisor
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Square pelvis bone
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Limited elbow movement
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|