All terms in DOID

Label Id Description
male reproductive system disease DOID_48 [A reproductive system disease that affects male reproductive organs.]
gonadal disease DOID_2277 [An endocrine system disease that is located_in the gonads.]
acute myeloid leukemia with biallelic mutation of CEBPA DOID_0081090 [An acute myeloid leukemia with double mutations of the CEBPA gene.]
acute myeloid leukemia DOID_9119 [A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.]
acute myeloid leukemia with mutated RUNX1 DOID_0081091 [An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities.]
acute myeloid leukemia with myelodysplasia-related changes DOID_0081092 [An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities.]
Rafiq syndrome DOID_0081097 [An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34.]
autosomal recessive intellectual developmental disorder DOID_0060308 [A intellectual disability characterized by an autosomal recessive inheritance pattern.]
autosomal recessive intellectual developmental disorder 13 DOID_0081098 [An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24.]
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies DOID_0081099 [An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13.]
Kluver-Bucy syndrome DOID_2510 [An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior.]
acute myeloid leukemia with t(8;21); (q22; q22.1) DOID_0081093 [An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.]
skull cancer DOID_1863
acute myeloid leukemia with MLL rearrangement DOID_0081094 [An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene.]
nevoid basal cell carcinoma syndrome DOID_2512 [A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities.]
diencephalic neoplasm DOID_3843
supratentorial cancer DOID_1659 [A brain cancer that is located in the supratentorial region.]
acute myeloid leukemia with mutated CEBPA DOID_0081095 [An acute myeloid leukemia with non-germline mutations of the CEBPA gene.]
obsolete pediatric craniopharyngioma DOID_3844
acute myeloid leukemia with t(1;22)(p13;q13) DOID_0081096 [An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.]