All terms in DOID

Label Id Description
external pathological resorption DOID_14529
tooth resorption DOID_13240
lissencephaly 8 DOID_0112233 [A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32.]
substernal goiter DOID_13200
goiter DOID_12176 [A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.]
lissencephaly 3 DOID_0112232 [A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12.]
lissencephaly 7 with cerebellar hypoplasia DOID_0112231 [A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1.]
malignant cardiac peripheral nerve sheath neoplasm DOID_14534
lissencephaly 5 DOID_0112230 [A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1.]
malignant cardiac germ cell tumor DOID_14535
susceptibility to platelet-type bleeding disorder 13 MIM_614009
obsolete metastasis to heart DOID_14539
background diabetic retinopathy DOID_13208
proliferative diabetic retinopathy DOID_13207
X-linked lissencephaly 1 DOID_0112239 [A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23.]
nodular prostate DOID_13206
prostatic hypertrophy DOID_11132
X-linked lissencephaly 2 DOID_0112238 [A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3.]
lissencephaly 1 DOID_0112237 [A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13.3.]
lissencephaly 6 DOID_0112236 [A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21.]