Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| campomelia, Cumming type | MONDO_0008896 | [Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.] |
| lymphatic malformation | MONDO_0019313 | [Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.] |
| fumarate measurement | EFO_0010480 | [Quantification of fumarate levels in a sample.] |
| hereditary arterial and articular multiple calcification syndrome | MONDO_0008895 | [Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.] |
| cataract-hypertrichosis-intellectual disability syndrome | MONDO_0008894 | [Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.] |
| hypertrichosis | MONDO_0019280 | [Excessive hair growth anywhere on the body.] |
| C syndrome | MONDO_0008893 | [C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.] |
| progressive familial intrahepatic cholestasis type 1 | MONDO_0008892 | [PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.] |
| progressive familial intrahepatic cholestasis | MONDO_0015762 | [Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.] |
| riboflavin transporter deficiency | MONDO_0008891 | [A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.] |
| bulbospinal muscular atrophy | MONDO_0016113 | |
| bipartite talus | MONDO_0018228 | [Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.] |
| non-syndromic limb malformation | MONDO_0015227 | |
| Methanobacterium congolense | NCBITaxon_118062 | |
| ear | UBERON_0001690 | [Sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals.] |
| cholinergic urticaria | EFO_1000679 | [A type of physical urticarias (or hives) that appears when a person is sweating., a type of physical urticarias (or hives) that appears when a person is sweating.] |
| infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | MONDO_0033864 | |
| infantile epileptic-dyskinetic encephalopathy | MONDO_0018226 | [Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.] |
| X-linked intellectual disability due to GRIA3 anomalies | MONDO_0018222 | |
| anal fin | UBERON_4000163 | [Median fin that is located posterior to the anus.] |