|
reproductive system mucosa
|
UBERON_0019042 |
|
|
benign pleural mesothelioma
|
DOID_5157 |
|
|
thyroid gland mucinous carcinoma
|
DOID_0081460 |
[A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition.] |
|
pleural cancer
|
DOID_5158 |
[A connective tissue cancer that located_in the pleura.] |
|
thyroid gland spindle epithelial tumor with thymus-like elements
|
DOID_0081461 |
[A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells.] |
|
mitochondrial DNA depletion syndrome 12a
|
DOID_0080130 |
[A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35.] |
|
periosteal osteogenic sarcoma
|
DOID_6489 |
|
|
mitochondrial DNA depletion syndrome 13
|
DOID_0080131 |
[A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16.] |
|
Sengers syndrome
|
DOID_0080132 |
[A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34.] |
|
ring staphyloma
|
DOID_11594 |
|
|
scleral staphyloma
|
DOID_11595 |
|
|
Peroxisome biogenesis disorder 6B
|
DOID_0081435 |
[A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36.] |
|
bladder lateral wall cancer
|
DOID_11593 |
|
|
urinary bladder cancer
|
DOID_11054 |
[An urinary system cancer that results_in malignant growth located_in the urinary bladder.] |
|
obsolete Mumps virus hepatitis
|
DOID_10263 |
[A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine.] |
|
Peroxisome biogenesis disorder 7B
|
DOID_0081436 |
[A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21.] |
|
microcephaly and chorioretinopathy 1
|
DOID_0080105 |
[A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene.] |
|
microcephaly and chorioretinopathy 2
|
DOID_0080106 |
[A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene.] |
|
Peroxisome biogenesis disorder 8B
|
DOID_0081437 |
[A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11.] |
|
otorrhea
|
DOID_10261 |
[An auditory system disease that is characterized by the discharge or drainage of fluid from the ear.] |