All terms in DOID

Label Id Description
ethmoid sinus inverted papilloma DOID_6562
brain small vessel disease 1 DOID_0090125 [A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.]
brain small vessel disease DOID_0112313 [A brain disease characterized by abnormalities in the small blood vessels in the brain.]
mite infestation DOID_7894 [A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae.]
obsolete metastatic testicular cancer DOID_6563
glomangiosarcoma DOID_5233
branched-chain keto acid dehydrogenase kinase deficiency DOID_0090126 [An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11.]
subungual glomus tumor DOID_5236
micropapillomatosis labialis DOID_6569
posterior uveal melanoma DOID_6566
uveal melanoma DOID_6039 [A uveal cancer that has_material_basis_in uvea pigment cells.]
carnitine palmitoyltransferase I deficiency DOID_0090129 [A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13.]
uterine corpus myxoid leiomyosarcoma DOID_6567 [A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels.]
obsolete glomus tumor of uncertain malignant potential DOID_5239
Brown-Vialetto-Van Laere syndrome 2 DOID_0080786 [A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24.]
Brown-Vialetto-Van Laere syndrome DOID_0050694 [A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves.]
proximal symphalangism 1 DOID_0080787 [A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.]
proximal symphalangism DOID_0050788 [A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.]
proximal symphalangism 2 DOID_0080788 [A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.]
Treacher Collins syndrome 1 DOID_0080789 [A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32.]