Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| achromatopsia | MONDO_0018852 | [Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.] |
| amblyopia | MONDO_0001020 | [Decreased vision that results from abnormal visual development.] |
| obsolete_phakomatosis cesioflammea | Orphanet_79483 | |
| obsolete_disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis | Orphanet_309463 | |
| purine ribonucleotide biosynthetic process | GO_0009152 | [ The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. ] |
| purine nucleotide biosynthetic process | GO_0006164 | [ The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. ] |
| purine ribonucleotide metabolic process | GO_0009150 | [ The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. ] |
| purine nucleotide metabolic process | GO_0006163 | [ The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. ] |
| theophylline | CHEBI_28177 | |
| benign familial nocturnal alternating hemiplegia of childhood | MONDO_0016209 | [Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.] |
| alternating hemiplegia | MONDO_0016210 | |
| hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | MONDO_0016203 | |
| Aicardi-Goutieres syndrome | MONDO_0018866 | [Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.] |
| striate palmoplantar keratoderma | MONDO_0018865 | [Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.] |
| metachromatic leukodystrophy | MONDO_0018868 | [A rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.] |
| IRVAN syndrome | MONDO_0016205 | |
| Zellweger-like syndrome without peroxisomal anomalies | MONDO_0018861 | [An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.] |
| qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - | MONDO_0016200 | |
| qualitative or quantitative defects of myotilin | MONDO_0016201 | |
| autosomal dominant rhegmatogenous retinal detachment | MONDO_0016202 | [Autosomal dominant form of rhegmatogenous retinal detachment.] |