Headache
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
338
75
0.100
None
0
Exfoliative dermatitis
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
64
2
0.100
None
0
Profuse pigmented skin lesions
phenotype
Finding
2
0.100
None
0
hypopigmented skin patch
phenotype
Skin and Connective Tissue Diseases
Finding
123
2
0.100
None
0
1
White eyelashes
phenotype
Finding
8
0.100
None
0
Cryptorchidism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
Congenital Abnormality
725
80
0.100
None
0
White eyebrow
phenotype
Finding
7
0.100
None
0
Hypermelanotic macule
phenotype
Finding
59
2
0.100
None
0
Nasal bridge wide
phenotype
Finding
429
29
0.100
None
0
Isolated cases
phenotype
Finding
111
0.100
None
0
Congenital ear anomaly NOS (disorder)
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
Congenital Abnormality
137
5
0.100
None
0
Choriocarcinoma
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
Neoplastic Process
431
2
0.100
None
0
Telangiectasia macularis eruptiva perstans
disease
Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
Disease or Syndrome
1
0.400
None
0
Long philtrum
phenotype
Finding
282
16
0.100
None
0
Muscle hypotonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
967
579
0.100
None
0
Thick skin
phenotype
Finding
40
1
0.100
None
0
Myelodysplasia, CTCAE
phenotype
Finding
68
0.100
None
0
hearing impairment
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
740
337
0.100
None
0
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC
disease
Disease or Syndrome
1
1
0.100
None
0
1
×
CUI:
C0013604
Disease:
Edema
Edema
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
126
1
0.100
None
0
Somatic mutation
phenotype
Cell or Molecular Dysfunction
151
0.100
None
0
Synophrys
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Congenital Abnormality
111
23
0.100
None
0
Gonadal Dysgenesis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Congenital Abnormality
53
6
0.100
None
0
Large hand
phenotype
Finding
35
7
0.100
None
0
Hirschsprung Disease
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
Disease or Syndrome
384
162
0.100
None
0