All terms in DOID

Label Id Description
myostatin-related muscle hypertrophy DOID_0111072 [A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2.]
sympathetic ophthalmia DOID_12029 [A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia.]
panuveitis DOID_12030 [An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid.]
obsolete hereditary inflammatory vasculitis DOID_14680
Conn's syndrome DOID_12028 [An adrenal adenoma characterized by the over production of aldosterone.]
adrenal adenoma DOID_656 [An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland.]
Silver-Russell syndrome DOID_14681 [A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.]
chondromalacia patellae DOID_13357 [A chondromalacia that is characterized by well-localized pain when the patella is grated against the femoral condyles or when the knee is actively extended with the patella manually displaced distally. This occurs when the posterior articular surface of the patella starts losing its density when in a healthy state and becomes softer with subsequent tearing, fissuring, and erosion of the hyaline cartilage.]
chondromalacia DOID_2557 [A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint.]
Binder syndrome DOID_14683
senile ectropion DOID_13356
birdshot chorioretinopathy DOID_0111079 [A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.]
posterior uveitis DOID_12574
Fanconi anemia complementation group V DOID_0111080 [A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36.]
Fanconi anemia complementation group T DOID_0111081 [A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32.]
congenital bile acid synthesis defect 5 DOID_0111066 [A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.]
obsolete chronobiology disease DOID_13364
congenital bile acid synthesis defect 6 DOID_0111067 [A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14.]
thrombocytopenia-absent radius syndrome DOID_14699 [A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other.]
autosomal recessive distal hereditary motor neuronopathy 1 DOID_0111064 [A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.]