DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
disease
Disease or Syndrome
1
2
0.700
None
1.000
2
2
2014
2014
HOYERAAL-HREIDARSSON 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; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
Disease or Syndrome
16
1
0.510
strong
1.000
1
2014
2014
Dyskeratosis Congenita
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
Disease or Syndrome
58
146
0.310
strong
1.000
2
1
2016
2017
Familial Atypical Mole Melanoma Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
Neoplastic Process
30
3
0.300
None
1.000
1
2015
2015
Neoplasms
group
Neoplasms
Neoplastic Process
10161
1644
0.110
None
1.000
1
2018
2018
melanoma
disease
Neoplasms
Neoplastic Process
3087
515
0.110
None
1.000
1
1
2015
2015
Cerebral calcification
phenotype
Nutritional and Metabolic Diseases; Nervous System Diseases
Finding
103
8
0.100
None
0
Retinal Diseases
group
Eye Diseases
Disease or Syndrome
714
56
0.100
None
0
Abnormality of coagulation
phenotype
Finding
59
15
0.100
None
0
Pancreatic Neoplasm
disease
Digestive System Diseases; Neoplasms; Endocrine System Diseases
Neoplastic Process
764
20
0.100
None
0
Bone marrow hypocellularity
phenotype
Finding
64
5
0.100
None
0
×
CUI:
C0027960
Disease:
Nevus
Nevus
disease
Neoplasms
Neoplastic Process
125
43
0.100
None
0
Short stature
phenotype
Finding
1127
292
0.100
None
0
Sparse scalp hair
phenotype
Finding
85
7
0.100
None
0
Muscle Hypertonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
197
21
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
Microcephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Congenital Abnormality
1064
27
0.100
None
0
Stomach Neoplasms
group
Digestive System Diseases; Neoplasms
Neoplastic Process
820
55
0.100
None
0
Thrombocytopenia
phenotype
Hemic and Lymphatic Diseases
Disease or Syndrome
592
110
0.100
None
0
Cerebellar Hypoplasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
Congenital Abnormality
226
26
0.100
None
0
Cerebral ventriculomegaly
phenotype
Nervous System Diseases
Finding
410
0.100
None
0
Premature canities
phenotype
Finding
33
4
0.100
None
0
Extrapyramidal sign
phenotype
Sign or Symptom
116
7
0.100
None
0
Dystrophia unguium
disease
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
Disease or Syndrome
81
9
0.100
None
0
Mammary Neoplasms
group
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
2780
385
0.100
None
0