Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) | MONDO_0600030 | [A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.] |
| Skin detachment | HP_0032156 | [Loss of sections of skin either spontaneously or after gentle handling.] |
| Abdominal cramps | HP_0032155 | [A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.] |
| Blepharophimosis-intellectual disability syndrome | Orphanet_293642 | |
| Joint subluxation | HP_0032153 | [A partial dislocation of a joint.] |
| X-linked Charcot-Marie-Tooth disease type 6 | Orphanet_352675 | |
| X-linked Charcot-Marie-Tooth disease | Orphanet_64747 | |
| nandrolone | CHEBI_7466 | |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | Orphanet_352670 | |
| obsolete_autosomal dominant complex spastic paraplegia | Orphanet_100979 | |
| obsolete_bathing suit ichthyosis | Orphanet_100976 | |
| Cloverleaf skull - asphyxiating thoracic dysplasia | Orphanet_100978 | |
| severe hypophosphatasia | MONDO_0600009 | [Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.] |
| obsolete_FRAXF syndrome | Orphanet_100974 | |
| obsolete_FRAXE intellectual disability | Orphanet_100973 | |
| glutaminase deficiency | MONDO_0600001 | [Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.] |
| Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies | Orphanet_352687 | |
| obsolete_cobblestone lissencephaly without muscular or ocular involvement | Orphanet_352682 | |
| naproxen | CHEBI_7476 | |
| presumptive mesoderm | UBERON_0006603 | [Presumptive structure of the blastula that will develop into mesoderm.] |