Multiple non-ossifying fibromatosis
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cafe-au-lait macules with pulmonary stenosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Disease or Syndrome
|
3
|
18
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Axillary freckling
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
6
|
12
|
0.100 |
None |
|
0 |
|
|
|
Cranioschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
13
|
32
|
0.800 |
definitive |
0.963 |
27 |
32
|
2005 |
2019 |
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
22
|
22
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Piebaldism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
33
|
18
|
0.020 |
None |
0.500 |
2 |
|
2012 |
2014 |
Multiple lipomata
|
disease |
Neoplasms
|
Neoplastic Process
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Plexiform Neurofibroma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
46
|
5
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Cafe-au-Lait Spots
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
74
|
32
|
0.400 |
None |
1.000 |
1 |
|
2007 |
2007 |
Congenital neurologic anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
84
|
4
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Noonan Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
85
|
187
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Low posterior hairline
|
phenotype |
|
Finding
|
86
|
11
|
0.100 |
None |
|
0 |
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
neurofibroma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
125
|
5
|
0.120 |
None |
0.500 |
2 |
|
2009 |
2009 |
High, narrow palate
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Neurofibromatoses
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
135
|
16
|
0.030 |
None |
0.667 |
3 |
|
2009 |
2010 |
Specific learning disability
|
disease |
|
Mental or Behavioral Dysfunction
|
165
|
13
|
0.100 |
None |
|
0 |
|
|
|
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
223
|
19
|
0.100 |
None |
|
0 |
|
|
|
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
14 |
1
|
1988 |
2013 |
Hamartoma Syndrome, Multiple
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
270
|
139
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Short neck
|
phenotype |
|
Finding
|
288
|
29
|
0.100 |
None |
|
0 |
|
|
|
Neurofibromatosis 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
311
|
827
|
0.400 |
None |
0.864 |
22 |
|
2007 |
2020 |
Myeloproliferative disease
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
365
|
43
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Chronic myeloproliferative disorder
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
366
|
47
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |