Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_autosomal recessive spastic paraplegia type 70 | Orphanet_401835 | |
| Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism | Orphanet_3085 | |
| obsolete_pectoral fin bud | EFO_0003430 | |
| Saccharomyces bayanus x Saccharomyces cerevisiae | NCBITaxon_89981 | |
| spinal muscular atrophy with congenital bone fractures 1 | MONDO_0014806 | [Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.] |
| obsolete_trigeminal placode | EFO_0003433 | [The ectodermal rudiment of the trigeminal ganglion, distinguishable during much of the segmentation period.] |
| obsolete_familial isolated hyperparathyroidism | Orphanet_99879 | |
| Hao-Fountain syndrome | MONDO_0014805 | [A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene.] |
| partial deletion of the short arm of chromosome 16 | MONDO_0016894 | |
| obsolete_presumptive midbrain | EFO_0003432 | |
| obsolete_autosomal recessive spastic paraplegia type 69 | Orphanet_401830 | |
| sideroblastic anemia 3 | MONDO_0014804 | |
| autosomal recessive sideroblastic anemia | MONDO_0016828 | [Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.] |
| obsolete_presumptive dorsal mesoderm | EFO_0003435 | |
| spasticity-ataxia-gait anomalies syndrome | MONDO_0014803 | |
| spastic ataxia | MONDO_0017845 | |
| obsolete_pancreas primordium | EFO_0003434 | |
| obsolete_presumptive endoderm | EFO_0003437 | |
| DDX41-related hematologic malignancy predisposition syndrome | MONDO_0014809 | [Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.] |
| obsolete_presumptive cephalic mesoderm | EFO_0003436 |