Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Usher syndrome type 1C | MONDO_0010171 | [A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.] |
| colchicine | CHEBI_23359 | [A carbotricyclic compound that has formula C22H25NO6., A carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position.] |
| Mayer-Rokitansky-Kuster-Hauser syndrome type 1 | MONDO_0010173 | [Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.] |
| Mayer-Rokitansky-Kuster-Hauser syndrome | MONDO_0017771 | [Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).] |
| SF126 | EFO_0005450 | |
| obsolete_symphalangism with multiple anomalies of hands and feet | Orphanet_3246 | |
| SF268 | EFO_0005451 | |
| anaplastic astrocytoma | EFO_0002499 | [Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.] |
| SHEF-1 | EFO_0005454 | |
| obsolete_Renpenning syndrome | Orphanet_3242 | [Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.] |
| Pulmonary hemorrhage | HP_0040223 | [Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.] |
| SHEF-3 | EFO_0005455 | |
| obsolete_deafness-craniofacial syndrome | Orphanet_3241 | |
| SF295 | EFO_0005452 | |
| Central nervous system calcification - deafness - tubular acidosis - anemia | Orphanet_3240 | |
| SF539 | EFO_0005453 | |
| SK-MM-2 | EFO_0005458 | |
| obsolete_SK-N-F1 | EFO_0005459 | |
| SHEP-2 | EFO_0005456 | |
| SK-MM-1 | EFO_0005457 |