Skeletal Defects, Genital Hypoplasia, And Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
1
|
0.700 |
limited |
1.000 |
1 |
1
|
2008 |
2008 |
Accessory rib
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Central Nervous System Embryonal Tumor, Not Otherwise Specified
|
disease |
Neoplasms
|
Neoplastic Process
|
13
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Fibular hypoplasia
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Metrorrhagia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Productive Cough
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Short tibia
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Productive Cough, CTCAE
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Oral cavity bleeding
|
phenotype |
|
Pathologic Function
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Thumb absent
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Diffuse alveolar hemorrhage
|
disease |
|
Disease or Syndrome
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of femur
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
3
|
0.100 |
None |
|
0 |
|
|
|
Thumb aplasia
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Bone marrow hypercellularity
|
phenotype |
|
Finding
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Ecchymosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Pathologic Function
|
41
|
2
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the radius
|
phenotype |
|
Finding
|
45
|
|
0.100 |
None |
|
0 |
|
|
|
Sialic Acid Storage Disease, Finnish Type (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
47
|
44
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Gingival Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases
|
Pathologic Function
|
50
|
2
|
0.100 |
None |
|
0 |
|
|
|
ULNAR HYPOPLASIA
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
50
|
|
0.100 |
None |
|
0 |
|
|
|
Petechiae of skin
|
phenotype |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Sign or Symptom
|
54
|
2
|
0.100 |
None |
|
0 |
|
|
|
Fibrinogen Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
56
|
4
|
0.100 |
None |
|
0 |
|
|
|
Hypofibrinogenemia
|
disease |
|
Disease or Syndrome
|
60
|
14
|
0.100 |
None |
|
0 |
|
|
|
POLYDACTYLY, POSTAXIAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
61
|
7
|
0.200 |
None |
1.000 |
1 |
|
2009 |
2009 |
Childhood Germ Cell Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
62
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Adult Germ Cell Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
62
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |