All terms in DOID

Label Id Description
Fanconi renotubular syndrome 1 DOID_0080757 [A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21.]
Fanconi renotubular syndrome 2 DOID_0080758 [A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35.]
Fanconi renotubular syndrome 3 DOID_0080759 [A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27.]
obsolete cervical papillary squamous cell carcinoma DOID_7833 [A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix.]
obsolete human papilloma virus related cervical squamous cell carcinoma DOID_7834 [A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix.]
cerebellar angioblastoma DOID_6500
brain stem angioblastoma DOID_6501 [A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells.]
obsolete anaplastic seminoma DOID_6506
vaginal spindle cell epithelioma DOID_6505 [A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina.]
benign vaginal carcinosarcoma DOID_135 [A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.]
obsolete mixed acinar-endocrine carcinoma DOID_7836
necrotic uveal melanoma DOID_7808 [An uveal melanoma characterized by the presence of tumor cell necrosis.]
glandular acinus UBERON_0009842
autosomal dominant congenital deafness with onychodystrophy DOID_0080720 [A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21.]
obsolete anaplastic giant cell thyroid carcinoma DOID_7809
calvarial doughnut lesions with bone fragility DOID_0080721 [An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones.]
adult spinal cord glioblastoma multiforme DOID_7806
Kenny-Caffey syndrome type 1 DOID_0080722 [A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42.]
Kenny-Caffey syndrome DOID_0080724 [A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia.]
choroid necrotic melanoma DOID_7807