Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_anauxetic dysplasia | Orphanet_93347 | |
| Spondyloepimetaphyseal dysplasia congenita, Strudwick type | Orphanet_93346 | |
| hypersensitivity pneumonitis, familial | MONDO_0007776 | [An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome.] |
| familial progressive hyperpigmentation | MONDO_0013648 | [Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.] |
| pseudohypoaldosteronism type 2A | MONDO_0007772 | |
| pseudohypoaldosteronism type 2 | MONDO_0019162 | [A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.] |
| paracetamol sulfate | CHEBI_32635 | [An aryl sulfate that is paracetamol in which the hydroxy group has been replaced by a sulfooxy group.] |
| branchiostegal ray 1 | UBERON_2001279 | [Branchiostegal ray that is the anterior-most ray in the adult.] |
| 5-acetamido-6-formamido-3-methyluracil | CHEBI_32643 | |
| pancreatic carcinoma with mixed differentiation | MONDO_0044727 | [A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss.] |
| X-linked intellectual disability, Golabi-Ito-hall type | MONDO_0019768 | [Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.] |
| 3-methylglutaconic aciduria type 9 | MONDO_0044724 | |
| hamel cerebro-palato-cardiac syndrome | MONDO_0019767 | [Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.] |
| progeria | MONDO_0020732 | |
| X-linked intellectual disability, Sutherland-Haan type | MONDO_0019769 | |
| combined immunodeficiency due to GINS1 deficiency | MONDO_0044725 | |
| isolated focal cortical dysplasia type IIa | MONDO_0017101 | |
| isolated focal cortical dysplasia type II | MONDO_0011818 | |
| obsolete_orofacial clefting syndrome | Orphanet_139039 | |
| isolated focal cortical dysplasia type IIb | MONDO_0017102 |