Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_Ramon syndrome | Orphanet_3019 | |
| obsolete_spondylo-ocular syndrome | Orphanet_85194 | |
| obsolete_idiopathic juvenile osteoporosis | Orphanet_85193 | |
| Hyperuricemia - anemia - renal failure | Orphanet_217330 | [Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).] |
| obsolete_pelvic fin bud | EFO_0003469 | |
| Nodulosis-arthropathy-osteolysis syndrome | Orphanet_85196 | |
| Genetic hypopigmentation of the skin | Orphanet_183469 | |
| Radius absent - anogenital anomalies | Orphanet_3016 | |
| obsolete_familial expansile osteolysis | Orphanet_85195 | |
| progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | MONDO_0014714 | [Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.] |
| obsolete_Genetic dermis disorder | Orphanet_183472 | |
| LP.15 fifteen leaves visible stage | PO_0007104 | [The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground.] |
| leaf production stage | PO_0007133 | [The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant.] |
| Adermatoglyphia | HP_0007455 | |
| LP.10 ten leaves visible stage | PO_0007103 | [The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground.] |
| LP.09 nine leaves visible | PO_0007101 | [The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground.] |
| Endosteal sclerosis - cerebellar hypoplasia | Orphanet_85186 | |
| obsolete_metaphyseal dysplasia, Braun-Tinschert type | Orphanet_85188 | |
| obsolete_presumptive rhombomere 3 | EFO_0003451 | |
| obsolete_rapadilino syndrome | Orphanet_3021 |