Herlitz Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
197
|
0.920 |
None |
1.000 |
37 |
67
|
1994 |
2018 |
Adult junctional epidermolysis bullosa (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
35
|
0.900 |
None |
1.000 |
9 |
14
|
1997 |
2016 |
Junctional Epidermolysis Bullosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
16
|
9
|
0.800 |
strong |
1.000 |
42 |
2
|
1994 |
2019 |
Amelogenesis imperfecta local hypoplastic form
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
9
|
2
|
0.520 |
None |
1.000 |
2 |
|
2014 |
2015 |
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
5
|
2
|
0.500 |
None |
1.000 |
1 |
|
1997 |
1997 |
Epidermolysis Bullosa Progressiva
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
|
0.500 |
None |
1.000 |
1 |
|
1997 |
1997 |
AMELOGENESIS IMPERFECTA, TYPE IA
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.410 |
strong |
1.000 |
2 |
9
|
2016 |
2018 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.300 |
None |
|
0 |
1
|
|
|
Other epidermolysis bullosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
4
|
|
0.200 |
None |
1.000 |
1 |
|
1997 |
1997 |
CUI: |
C2673610 |
Disease: |
JEB-I
|
JEB-I
|
disease |
|
Disease or Syndrome
|
4
|
|
0.200 |
None |
1.000 |
1 |
|
1997 |
1997 |
Epidermolysis bullosa inversa dystrophica
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
1997 |
1997 |
Amelogenesis Imperfecta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
61
|
24
|
0.150 |
None |
1.000 |
5 |
2
|
2013 |
2019 |
Dental Enamel Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
72
|
1
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Oral mucosal blisters
|
phenotype |
|
Sign or Symptom
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture of proximal interphalangeal joint
|
phenotype |
|
Finding
|
168
|
7
|
0.100 |
None |
|
0 |
|
|
|
Squamous cell carcinoma of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
458
|
92
|
0.100 |
None |
|
0 |
|
|
|
Nail dysplasia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
78
|
2
|
0.100 |
None |
|
0 |
|
|
|
Milium Cyst
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases
|
Anatomical Abnormality
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.100 |
None |
|
0 |
|
|
|
ANONYCHIA
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
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 |
|
|
|
Atrophic scar
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
23
|
3
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.100 |
None |
|
0 |
|
|
|