Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| incomplete abortion | EFO_1001799 | [Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled.] |
| ALG3-CDG | MONDO_0010998 | [A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).] |
| immunoproliferative small intestinal disease | EFO_1001798 | [A condition that is caused by HYPERPLASIA of LYMPHOCYTES in the small intestine (INTESTINE, SMALL) and the mesenteric LYMPH NODES. These lymphocytes produce an anomalous alpha heavy chain protein. Generally, these IPSID patients have either concurrent LYMPHOMA or develop lymphoma within a few years. The disease was first described in the Mediterranean region and is characterized by malabsorption; WEIGHT LOSS; DIARRHEA; and STEATORRHEA.] |
| supranuclear palsy, progressive, 1 | MONDO_0010997 | [Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.] |
| Hemoglobin SC Disease | EFO_1001797 | [One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia.] |
| uveal coloboma-cleft lip and palate-intellectual disability | MONDO_0007355 | [Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.] |
| Glomus Jugulare Tumor | EFO_1001796 | [A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4)] |
| fallot complex-intellectual disability-growth delay syndrome | MONDO_0010999 | [Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.] |
| obsolete_autosomal recessive hereditary sensory and autonomic neuropathy | Orphanet_140477 | |
| fusariosis | EFO_1001795 | [Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections., OPPORTUNISTIC INFECTIONS with the soil fungus FUSARIUM. Typically the infection is limited to the nail plate (ONYCHOMYCOSIS). The infection can however become systemic especially in an IMMUNOCOMPROMISED HOST (e.g., NEUTROPENIA) and results in cutaneous and subcutaneous lesions, fever, KERATITIS, and pulmonary infections.] |
| coloboma of macula-brachydactyly type B syndrome | MONDO_0007353 | [Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.] |
| obsolete_autosomal dominant hereditary sensory and autonomic neuropathy | Orphanet_140474 | |
| fetomaternal transfusion | EFO_1001794 | [Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed)] |
| fetal hypoxia | EFO_1001793 | [Deficient oxygenation of FETAL BLOOD.] |
| coloboma of macula | MONDO_0007351 | [Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.] |
| femoral neck fracture | EFO_1001792 | [Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES.] |
| renal coloboma syndrome | MONDO_0007352 | [Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.] |
| Sotos syndrome | MONDO_0019349 | [Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.] |
| sialidosis type 1 | MONDO_0019346 | [Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.] |
| obsolete_autosomal dominant slowed nerve conduction velocity | Orphanet_140481 |