Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_genetic nail anomaly | Orphanet_183454 | |
| topoisomerase II inhibitor | CHEBI_50750 | [An inhibitor of DNA topoisomerase II, which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands.] |
| enzyme inhibitor | CHEBI_23924 | [A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction.] |
| obsolete_genetic hair anomaly | Orphanet_183450 | |
| Charcot-Marie-Tooth disease type 4K | MONDO_0014733 | [SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).] |
| intellectual disability - sparse hair - brachydactyly | Orphanet_3051 | |
| Intellectual disability - hypotonia - skin hyperpigmentation | Orphanet_3050 | |
| LP.06 six leaves visible stage | PO_0007123 | [The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground.] |
| LP.19 nineteen leaves visible stage | PO_0007120 | [The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground.] |
| Severe achondroplasia - developmental delay - acanthosis nigricans | Orphanet_85165 | |
| FGFR3-related chondrodysplasia | MONDO_0019685 | |
| Blepharophimosis-intellectual disability syndrome, SBBYS type | Orphanet_3047 | |
| Camptodactyly - tall stature - scoliosis - hearing loss | Orphanet_85164 | |
| Spondylometaphyseal dysplasia - cone-rod dystrophy | Orphanet_85167 | |
| obsolete_presumptive ventral fin fold | EFO_0003471 | |
| obsolete_platyspondylic dysplasia, Torrance type | Orphanet_85166 | |
| obsolete_pancreatic bud | EFO_0003470 | |
| Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus | Orphanet_3044 | |
| obsolete_familial digital arthropathy-brachydactyly | Orphanet_85169 | |
| LP.16 sixteen leaves visible stage | PO_0007119 | [The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground.] |