All terms in DOID

Label Id Description
congenital fibrosis of the extraocular muscles 5 DOID_0081020 [A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25.]
pituitary gland disease DOID_53 [An endocrine system disease that is located_in the pituitary gland.]
Tukel syndrome DOID_0081021 [A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left.]
thyroid gland disease DOID_50 [An endocrine system disease that is located_in the thyroid.]
retinal cone dystrophy 3B DOID_0081022 [A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24.]
retinal cone dystrophy 4 DOID_0081023 [A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13.]
space in vertebral column UBERON_0010276
carbon group molecular entity CHEBI_33582
p-block molecular entity CHEBI_33675
neonatal-onset type II citrullinemia DOID_0070341 [A citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.]
citrullinemia DOID_9273 [An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.]
adult-onset type II citrullinemia DOID_0070342 [A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.]
classic citrullinemia DOID_0070340 [A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.]
spinal muscular atrophy with lower extremity predominant 2A DOID_0070349 [A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.]
spinal muscular atrophy with lower extremity predominant DOID_0070348 [A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles.]
encephalopathy due to defective mitochondrial and peroxisomal fission 1 DOID_0070347 [A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood.]
spinal muscular atrophy DOID_12377 [A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.]
vertebral anomalies and variable endocrine and T-cell dysfunction DOID_0070345 [A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments.]
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies DOID_0070346 [A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22.]
CSF1R-related brain malformation and osteopetrosis DOID_0070343 [A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life.]