Dehydration
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
295
|
6
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
estrogen receptor-negative breast cancer
|
disease |
|
Neoplastic Process
|
356
|
40
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
394
|
173
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
360
|
194
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.100 |
None |
|
0 |
|
|
|
Few cafe-au-lait spots
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
3
|
2
|
0.100 |
None |
|
0 |
|
|
|
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3177
|
281
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Hallux Valgus
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
61
|
6
|
0.100 |
None |
|
0 |
|
|
|
Heart murmur
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
31
|
10
|
0.100 |
None |
|
0 |
|
|
|
Hepatoblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
452
|
22
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
High Grade Intraepithelial Neoplasia
|
disease |
Neoplasms
|
Neoplastic Process
|
38
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
High pitched voice
|
phenotype |
|
Finding
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hip Dysplasia
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Anatomical Abnormality
|
128
|
16
|
0.100 |
None |
|
0 |
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Infection
|
group |
Infections
|
Pathologic Function
|
491
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Intracranial Aneurysm
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
311
|
150
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2016 |
Joint hyperflexibility
|
phenotype |
|
Finding
|
181
|
12
|
0.100 |
None |
|
0 |
|
|
|