All terms in DOID

Label Id Description
Growth delay HP_0001510
glycogen-rich carcinoma DOID_0081028 [A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen.]
retinal cone dystrophy 1 DOID_0081024 [A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration.]
cone dystrophy DOID_0050795 [A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.]
retinal cone dystrophy 3A DOID_0081025 [A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13.]
benign peritoneal solitary fibrous tumor DOID_0081026 [A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels.]
leukoencephalopathy with vanishing white matter 1 DOID_0070374 [A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24.]
curator inference from Britannica ECO_0007639 [A type of curator inference from encyclopedia where the reference is to an Encyclopedia Britannica article.]
developmental and epileptic encephalopathy 64 DOID_0070375 [A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21.]
curator inference from Wikipedia ECO_0007638 [A type of curator inference from encyclopedia where the reference is to a Wikipedia article.]
leukoencephalopathy with vanishing white matter 3 DOID_0070372 [A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34.]
leukoencephalopathy with vanishing white matter 2 DOID_0070373 [A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24.]
curator inference from database ECO_0007636 [A type of curator inference from authoritative resource based on information located in a queryable database and is optimized for computers.]
restrictive dermopathy 2 DOID_0070370 [A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.]
leukoencephalopathy with vanishing white matter 4 DOID_0070371 [A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23.]
developmental and epileptic encephalopathy 109 DOID_0070378 [A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13.]
aortic valve insufficiency DOID_57 [An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.]
developmental and epileptic encephalopathy 6B DOID_0070379 [A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. This disease has the same genetic basis as Dravet syndrome (DOID:0080422) but is more severe.]
developmental and epileptic encephalopathy 31B DOID_0070376 [A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34.]
developmental and epileptic encephalopathy 96 DOID_0070377 [A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21.]