All terms in DOID

Label Id Description
gait apraxia DOID_4260
Tietz syndrome DOID_0090002 [A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13.]
aggressive digital papillary adenocarcinoma DOID_5590 [A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential.]
agenesis of the corpus callosum with peripheral neuropathy DOID_0090003 [A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14.]
gastric papillary adenocarcinoma DOID_5593 [A papillary adenocarcinoma that is located_in the stomach.]
breast papillary carcinoma DOID_5592 [A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass.]
Fraser syndrome DOID_0090001 [A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.]
papillary thymic adenocarcinoma DOID_5595
renal coloboma syndrome DOID_0090006 [A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24.]
Urethrovesical occlusion HP_0034378
obsolete intraductal papillary adenocarcinoma with invasion DOID_5594
obsolete drug-induced akathisia DOID_4263
fallopian tube papillary adenocarcinoma DOID_5597 [A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern.]
intravascular angioleiomyoma DOID_4266
angiomyoma DOID_4265 [A leiomyoma that is located_in the blood vessels.]
progressive pseudorheumatoid arthropathy of childhood DOID_0090004 [A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22.]
Schwartz-Jampel syndrome 1 DOID_0090005 [A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.]
pulmonary edema SYMP_0019151 [A respiratory system and chest symptom that is characterized by an abnormal accumulation of fluid in the lungs.]
obsolete precursor T-lymphoblastic lymphoma/leukemia DOID_5599
fallopian tube serous adenocarcinoma DOID_5598 [A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.]