All terms in DOID

Label Id Description
B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like DOID_0080650 [A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.]
B-lymphoblastic leukemia/lymphoma with iAMP21 DOID_0080651 [A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21.]
calcium oxalate nephrolithiasis DOID_0080652 [A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.]
nephrolithiasis DOID_585 [A kidney disease characterized by the formation of stoney concentrations in the kidneys.]
communication difficulty SYMP_0019185 [A behavioral symptom that is characterized by speech, language and communication needs or communication disabilities.]
obsessive interests SYMP_0019186 [A behavioral symptom that is characterized by obsessive and highly-focused interests.]
repetitive behavior SYMP_0019187 [A behavioral symptom that is characterized by an unusual repetitive motor movements or manipulation of objects.]
intracranial hemorrhage SYMP_0019188 [A hemorrhage that is characterized by any bleeding occurring within the skull.]
intracerebral hemorrhage SYMP_0019189 [A hemorrhage that is characterized by bleeding within the brain tissue itself.]
Abnormally lax or hyperextensible skin HP_0008067
Abnormal elasticity of skin HP_0010647
Aplasia/Hypoplasia of the skin HP_0008065
small bowel fibrosarcoma DOID_6880 [A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel.]
small intestinal sarcoma DOID_5272 [A sarcoma and malignant tumor of small intestine that is located_in the small intestine.]
subdural hemorrhage SYMP_0019190 [A hemorrhage that is characterized by bleeding that occurs within the skull of head but outside the actual brain tissue.]
pineal region choriocarcinoma DOID_5553
obsolete mediastinum choriocarcinoma DOID_5552
obsolete recurrent ureteric cancer DOID_6887
obsolete adult soft tissue sarcoma DOID_4224 [A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body.]
ureter transitional cell carcinoma DOID_6888