All terms in DOID

Label Id Description
microlissencephaly DOID_0112234 [A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly.]
lissencephaly 4 DOID_0112235 [A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11.]
obsolete secondary syphilitic iridocyclitis DOID_13202
obsolete syringomyelia and syringobulbia DOID_14530
right bundle branch block DOID_13209
nephrotic syndrome type 23 DOID_0112266 [A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1.]
obsolete secondary malignant neoplasm of brain and spinal cord DOID_13211
iminoglycinuria DOID_0112265 [A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33.]
rete testis adenocarcinoma DOID_14544 [A rete testis neoplasm that derives_from epithelial cells of glandular origin.]
Woodhouse-Sakati syndrome DOID_0112264 [A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1.]
seminal vesicle adenocarcinoma DOID_14545 [A male reproductive organ cancer that derives_from epithelial cells of glandular origin.]
hypoinsulinemic hypoglycemia with hemihypertrophy DOID_0112263 [An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2.]
hypoglycemia DOID_9993 [A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.]
sphenoidal sinus cancer DOID_14546
leucine-sensitive hypoglycemia of infancy DOID_0112262 [An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1.]
sphenoid sinus squamous cell carcinoma DOID_14547 [A squamous cell carcinoma that is located_in the sphenoid sinus.]
Leydig cell hypoplasia type II DOID_0112261 [A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3.]
Leydig cell hypoplasia DOID_0112259 [A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3.]
steroid-induced glaucoma - borderline DOID_14548
borderline glaucoma DOID_9283 [A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy.]