Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| memory impairment | EFO_0001072 | |
| inverted papilloma | MONDO_0002537 | [An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses.] |
| morbid obesity | EFO_0001074 | [A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)., An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight., Extreme form of obesity where body bass index is 40 or more, which is roughly equivalent to 100 pounds or more over ideal body weight., The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2.] |
| Pseudomonas infection | EFO_0001076 | [Infections with bacteria of the genus pseudomonas., Infections with bacteria of the genus PSEUDOMONAS.] |
| papillary adenoma | MONDO_0002533 | [An adenoma characterized by the presence of papillary epithelial patterns.] |
| Pseudomonas aeruginosa CF5 infection | EFO_0001077 | [A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5.] |
| Pseudomonas aeruginosa infectious disease | MONDO_0040732 | |
| Pseudomonas aeruginosa PA14 infection | EFO_0001078 | [A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.] |
| Propionibacterium acnes | NCBITaxon_1747 | |
| trimethylamine N-oxide | CHEBI_15724 | [A tertiary amine oxide resulting from the oxidation of the amino group of trimethylamine.] |
| obsolete_Rett syndrome | EFO_0001079 | [A pervasive developmental disorder that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities., A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities., An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear (MeSH)., An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)] |
| Catel-Manzke syndrome | MONDO_0014507 | [Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.] |
| hypomyelinating leukodystrophy 9 | MONDO_0014506 | [Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene.] |
| Hermansky-Pudlak syndrome with neutropenia | Orphanet_183678 | [Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.] |
| Genetic polyendocrinopathy | Orphanet_183643 | |
| obsolete_atrial septal defect, coronary sinus type | Orphanet_99104 | |
| obsolete_atrial septal defect, ostium secundum type | Orphanet_99103 | |
| obsolete_atrial septal defect, ostium primum type | Orphanet_99106 | |
| progeroid features-hepatocellular carcinoma predisposition syndrome | MONDO_0014527 | |
| obsolete_atrial septal defect, sinus venosus type | Orphanet_99105 |