Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obesity due to CEP19 deficiency | MONDO_0014309 | |
| nephrosis | MONDO_0002331 | [Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.] |
| Enterococcus faecalis OG1RF | NCBITaxon_474186 | |
| hyperinsulinism due to HNF4A deficiency | MONDO_0016988 | [Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).] |
| palmoplantar keratoderma, nonepidermolytic, focal or diffuse | MONDO_0014327 | |
| hereditary palmoplantar keratoderma | MONDO_0019272 | [An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome.] |
| nemaline myopathy 9 | MONDO_0014326 | [Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.] |
| typical nemaline myopathy | MONDO_0015737 | [Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.] |
| intermediate nemaline myopathy | MONDO_0015736 | [Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.] |
| infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | MONDO_0016981 | |
| Bartter syndrome with hypocalcemia | MONDO_0016983 | [Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)] |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | MONDO_0014320 | [Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.] |
| tetracycline | CHEBI_27902 | [A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria., A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration.] |
| Intellectual disability - cataracts - kyphosis | Orphanet_171860 | |
| obsolete_syndromic agammaglobulinemia | Orphanet_229720 | |
| Autosomal dominant spastic paraplegia type 42 | Orphanet_171863 | |
| phenyl hydrogen sulfate | CHEBI_27905 | [An aryl sulfate that is phenol bearing an O-sulfo substituent.] |
| obsolete_spondyloepimetaphyseal dysplasia, aggrecan type | Orphanet_171866 | |
| cervicitis | MONDO_0002345 | [An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge.] |
| granulomatous angiitis | MONDO_0002341 | [Inflammation of the arteries that is characterized by the presence of granulomas.] |