Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| hypomyelinating leukodystrophy 6 | MONDO_0012905 | [Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.] |
| obsolete_hereditary thrombocytosis with transverse limb defect | Orphanet_329319 | |
| obsolete_adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | Orphanet_329314 | |
| Haemophilus influenzae | NCBITaxon_727 | |
| chromosome 1q21.1 deletion syndrome | MONDO_0012914 | [1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.] |
| pseudohypoparathyroidism type 1C | MONDO_0012911 | [Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).] |
| pseudopseudohypoparathyroidism | MONDO_0012912 | [Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).] |
| chromosome 1q21.1 duplication syndrome | MONDO_0012915 | [Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.] |
| chromosome 2p16.1-p15 deletion syndrome | MONDO_0012916 | [2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.] |
| obsolete_fatty acid hydroxylase-associated neurodegeneration | Orphanet_329308 | |
| obsolete_PLA2G6-associated neurodegeneration | Orphanet_329303 | |
| autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | MONDO_0012930 | |
| cerebral artery occlusion | MONDO_0000944 | |
| arterial occlusion | MONDO_0020673 | [Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart.] |
| conjunctival degeneration | MONDO_0000949 | |
| Haemophilus ducreyi | NCBITaxon_730 | |
| hereditary spastic paraplegia 42 | MONDO_0012928 | [Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.] |
| autosomal dominant pure spastic paraplegia | MONDO_0015088 | [Autosomal dominant form of pure hereditary spastic paraplegia.] |
| Compton-North congenital myopathy | MONDO_0012929 | |
| Histophilus somni | NCBITaxon_731 |