Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_partial monosomy of the long arm of chromosome 9 | Orphanet_262074 | |
| unilateral hemispheric polymicrogyria | MONDO_0015099 | |
| 19p13.13 microdeletion syndrome | Orphanet_357001 | |
| subependymal nodular heterotopia | MONDO_0015094 | |
| sub-cortical nodular heterotopia | MONDO_0015093 | |
| autosomal dominant spastic paraplegia type 9 | MONDO_0015091 | [Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.] |
| obsolete_atypical hemolytic-uremic syndrome with DGKE deficiency | Orphanet_357008 | |
| Tumor necrosis factor receptor 1 associated periodic syndrome | Orphanet_32960 | [Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).] |
| future spinal cord | UBERON_0006241 | |
| obsolete_partial deletion of the long arm of chromosome 8 | Orphanet_262065 | |
| L-cysteine | CHEBI_17561 | |
| uracil | CHEBI_17568 | [A common and naturally occurring pyrimidine nucleobase in which the pyrimidine ring is substituted with two oxo groups at positions 2 and 4. Found in RNA, it base pairs with adenine and replaces thymine during DNA transcription.] |
| Trichoderma atroviride | NCBITaxon_63577 | |
| obsolete_focal palmoplantar keratoderma with joint keratoses | Orphanet_370002 | |
| obsolete_alkaline ceramidase 3 deficiency | Orphanet_502444 | [A form of leukodystrophy, a disorder of myelin production or maintenance affecting the central nervous system. PELCO features include neurological regression between 6 and 13 months of age, truncal hypotonia, appendicular spasticity, dystonia, optic disk pallor, peripheral neuropathy and neurogenic bladder. Brain imaging shows progressive diffuse abnormal white matter signals, cerebral atrophy, and thin corpus callosum. Sural nerve biopsy shows decreased myelination. PLDECO inheritance is autosomal recessive.] |
| Familial retinoblastoma | Orphanet_357027 | |
| obsolete_Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies | Orphanet_370006 | |
| N-methyl-L-alanine | CHEBI_17519 | [A methyl-L-alanine in which one of the the amino hydrogen of L-alanine is replaced by a methyl group.] |
| obsolete_unilateral retinoblastoma | Orphanet_357034 | |
| Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | Orphanet_370022 |