All terms in DOID

Label Id Description
developmental and epileptic encephalopathy 80 DOID_0112216 [A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3.]
developmental and epileptic encephalopathy 79 DOID_0112215 [A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12.]
developmental and epileptic encephalopathy 78 DOID_0112214 [A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12.]
ventricle of nervous system UBERON_0005358
multiple congenital anomalies-hypotonia-seizures syndrome 4 DOID_0112213 [A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3.]
susceptibility to idiopathic generalized epilepsy 14 MIM_616685
developmental and epileptic encephalopathy 76 DOID_0112212 [A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1.]
endocervical type cervical adenomyoma DOID_8177 [A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle.]
endometrial type cervical adenomyoma DOID_8178 [A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle.]
malvids NCBITaxon_91836
cervical atypical polypoid adenomyoma DOID_8179 [A cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma.]
obsolete recurrent vulva cancer DOID_8192
hepatoid pattern testicular yolk sac tumor DOID_8195
papillary pattern testicular yolk sac tumor DOID_8193
obsolete recurrent pediatric hepatoma DOID_8194
uterine corpus choriocarcinoma DOID_8188 [A choriocarcinoma that is located_in the uterine corpus.]
fallopian tube gestational choriocarcinoma DOID_8186 [A gestational choriocarcinoma that is located_in the fallopian tube.]
gestational uterine corpus choriocarcinoma DOID_8187 [A gestational choriocarcinoma that is located_in the uterine corpus.]
morpholines CHEBI_38785
thyroid Hurthle cell adenoma DOID_8162