Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| mitochondrial complex deficiency | MONDO_0000066 | |
| CADDS | MONDO_0018247 | |
| peroxisomal disease | MONDO_0019053 | [A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia.] |
| autoimmune hypoparathyroidism | MONDO_0018242 | [An autoimmune form of hypoparathyroidism.] |
| autoimmune disorder of endocrine system | MONDO_0000569 | [A hypersensitivity reaction type II disease that involves the endocrine system.] |
| short bowel syndrome | MONDO_0015183 | [Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.] |
| obesity due to SIM1 deficiency | MONDO_0018244 | |
| genetic non-syndromic obesity | MONDO_0020075 | |
| intellectual disability-hyperkinetic movement-truncal ataxia syndrome | MONDO_0018243 | |
| TRPV4-related bone disorder | MONDO_0018240 | |
| mismatch repair cancer syndrome | MONDO_0031219 | |
| Long fingers | HP_0100807 | [The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.] |
| Sepsis | HP_0100806 | [Systemic inflammatory response to infection.] |
| familial syringomyelia | MONDO_0018257 | [An instance of syringomyelia that is caused by an inherited modification of the individual's genome.] |
| primary syringomyelia | MONDO_0020508 | |
| intellectual disability-facial dysmorphism-hand anomalies syndrome | MONDO_0018253 | |
| focal palmoplantar keratoderma with joint keratoses | MONDO_0018252 | |
| isolated focal palmoplantar keratoderma | MONDO_0017673 | [A focal palmoplantar keratoderma that is not part of a larger syndrome.] |
| spondylometaphyseal dysplasia, Czarny-Ratajczak type | MONDO_0018255 | |
| spondyloepimetaphyseal dysplasia, Isidor type | MONDO_0018254 |