Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| oxidised LDL | CHEBI_60151 | |
| obsolete_Keutel syndrome | Orphanet_85202 | |
| obsolete_genitopatellar syndrome | Orphanet_85201 | |
| Acro-pectoral syndrome | Orphanet_85203 | |
| Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures | Orphanet_73229 | |
| obsolete_forerunner cell group | EFO_0003419 | |
| obsolete_cibarium primordium | EFO_0003418 | |
| obsolete_leukocyte adhesion deficiency type II | Orphanet_99843 | |
| Leukocyte adhesion deficiency type I | Orphanet_99842 | [Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.] |
| obsolete_genetic recurrent myoglobinuria | Orphanet_99845 | |
| Leukocyte adhesion deficiency type III | Orphanet_99844 | [Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.] |
| obsolete_X-linked intellectual disability, Schutz type | Orphanet_3062 | |
| X-linked intellectual disability, Raynaud type | Orphanet_3061 | |
| diterpene | CHEBI_35190 | |
| terpene | CHEBI_35186 | |
| Fatal multiple mitochondrial dysfunction syndrome type 1 | Orphanet_401869 | |
| X-linked intellectual disability, Gu type | Orphanet_3059 | |
| Microphthalmia - ankyloblepharon - intellectual disability | Orphanet_85275 | |
| obsolete_syndromic X-linked intellectual disability 7 | Orphanet_85274 | |
| Monoamine oxidase A deficiency | Orphanet_3057 | [Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.] |