Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Aagenaes syndrome | MONDO_0008966 | [Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.] |
| primary lymphedema | MONDO_0019175 | [A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.] |
| liver disease | EFO_0001421 | [A disease involving the liver., Any disease or dysfunction of the liver and the intrahepatic bile ducts., Pathological processes of the LIVER.] |
| syndromic lymphedema | MONDO_0019520 | [A lymphedema that is part of a larger syndrome.] |
| skin hydration measurement | EFO_0009586 | [Quantification of the degree of hydration of the superficial layers of the skin.] |
| skin barrier function measurement | EFO_0007891 | [quantification of epidermal permeability barrier status, for example using transepidermal water loss, the passive diffusion of water from the hydrated layers of the dermis and epidermis towards those layers with a lower water content] |
| CHARGE syndrome | MONDO_0008965 | [CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).] |
| genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome | MONDO_0043007 | [An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome.] |
| primary immunodeficiency due to a defect in adaptive immunity | MONDO_0015823 | |
| lens shape anomaly | MONDO_0020237 | |
| neurocristopathy | MONDO_0021635 | [That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.] |
| syndromic renal or urinary tract malformation | MONDO_0019721 | [A renal or urinary tract malformation that is part of a larger syndrome.] |
| anhedonia measurement | EFO_0009587 | [Quantification of levels of anhedonia, defined as the inability to experience pleasure in activities usually found enjoyable.] |
| growth rate measurement | EFO_0010572 | [Quantification of the rate of growth of an organism, in terms of the change in body mass, height or other anthropometric measurement per unit of time] |
| body weights and measures | EFO_0004324 | [Measurements of the height, weight, length, area, etc., of the human and animal body or its parts.] |
| congenital secretory chloride diarrhea 1 | MONDO_0008964 | [Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.] |
| congenital secretory diarrhea | MONDO_0045032 | |
| congenital intestinal transport defect | MONDO_0015178 | |
| Chediak-Higashi syndrome | MONDO_0008963 | [ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.] |
| disorder of lysosomal-related organelles | MONDO_0017739 |