DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
|
disease |
|
Disease or Syndrome
|
2
|
9
|
0.300 |
moderate |
1.000 |
1 |
|
1999 |
1999 |
Anal mucosal leukoplakia
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
1
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Pterygium of nail
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Anatomical Abnormality
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Phimosis
|
phenotype |
Male Urogenital Diseases
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypopigmentation of hair
|
disease |
|
Disease or Syndrome
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
White blood cell abnormality
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Longitudinal split nail
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Splits in nails (finding)
|
phenotype |
|
Sign or Symptom
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Reticulated skin pigmentation
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Adult Anaplastic Ependymoma
|
disease |
Neoplasms
|
Neoplastic Process
|
9
|
1
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
NIEMANN-PICK DISEASE, TYPE C2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
22
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Childhood Anaplastic Ependymoma
|
disease |
Neoplasms
|
Neoplastic Process
|
9
|
1
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Inherited bone marrow failure syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
11
|
3
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2017 |
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
|
0.550 |
None |
1.000 |
5 |
|
1999 |
2016 |
X-Linked Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
17
|
33
|
0.800 |
None |
1.000 |
45 |
33
|
1998 |
2019 |
Esophageal Stenosis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
stage, colon cancer
|
phenotype |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
18
|
2
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
White hair
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Rough bone trabeculation
|
disease |
|
Anatomical Abnormality
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Skin Vesicle
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Esophageal Stricture
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
20
|
2
|
0.100 |
None |
|
0 |
|
|
|
Ridged nails
|
phenotype |
|
Finding
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Aplastic/hypoplastic toenail
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pharynx
|
disease |
|
Anatomical Abnormality
|
23
|
|
0.100 |
None |
|
0 |
|
|
|