hypopigmented skin patch
phenotype
Skin and Connective Tissue Diseases
Finding
123
2
0.100
None
0
Congenital Epicanthus
disease
Congenital Abnormality
417
30
0.100
None
0
Nasal voice
phenotype
Finding
93
3
0.100
None
0
Posterior embryotoxon
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
44
0.100
None
0
Short neck
phenotype
Finding
288
29
0.100
None
0
Frank hematuria
phenotype
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Finding
9
1
0.100
None
0
Blindness
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Disease or Syndrome
393
34
0.100
None
0
Sensorineural hearing loss, bilateral
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
117
30
0.100
None
0
Multiple renal cysts
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
46
4
0.100
None
0
Abnormal lung lobation
disease
Respiratory Tract Diseases
Congenital Abnormality
32
0.100
None
0
Congenital hypoplasia of thymus
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
34
0.100
None
0
×
CUI:
C0702166
Disease:
Acne
Acne
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
167
11
0.100
None
0
Long face
phenotype
Finding
182
12
0.100
None
0
Spontaneous hematomas
disease
Disease or Syndrome
33
0.100
None
0
Congenital exomphalos
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
235
0.100
None
0
Attention deficit hyperactivity disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
842
420
0.100
None
0
Increased mean platelet volume
phenotype
Finding
10
2
0.100
None
0
1
Dysphasia
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
63
4
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
CONOTRUNCAL ANOMALY FACE SYNDROME
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
18
0.300
None
0
Asymmetric crying face association
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
Disease or Syndrome
25
2
0.300
None
0
Increased tendency to bruise
phenotype
Wounds and Injuries
Finding
133
14
0.100
None
0
Bulbous nose
phenotype
Finding
123
13
0.100
None
0
Low set ears
disease
Congenital Abnormality
489
64
0.100
None
0
Myalgia
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Sign or Symptom
226
22
0.100
None
0