Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Niemann-Pick disease type E | MONDO_0020384 | [Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.] |
| fundus pulverulentus | MONDO_0020383 | [Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.] |
| obsolete_obesity due to SIM1 deficiency | Orphanet_369873 | |
| obsolete_distal hereditary motor neuropathy type 2 | Orphanet_139525 | |
| Human herpesvirus 1 | NCBITaxon_10298 | |
| obsolete_mucopolysaccharidosis type 1 | Orphanet_579 | |
| obsolete_mucolipidosis type IV | Orphanet_578 | |
| obsolete_mucolipidosis type III | Orphanet_577 | |
| obsolete_Mucolipidosis type II | Orphanet_576 | [Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.] |
| obsolete_Muckle-Wells syndrome | Orphanet_575 | [Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).] |
| obsolete_monosomy 21 | Orphanet_574 | |
| obsolete_monilethrix | Orphanet_573 | |
| Immunodeficiency by defective expression of HLA class 2 | Orphanet_572 | |
| Moebius syndrome | Orphanet_570 | [Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.] |
| Helicos sequencing assay | OBI_0000697 | [Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length., A DNA sequencing by synthesis assay that identifiies the sequnece of billions of DNA molecules immobilized to a surface using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not require an amplification step and is typically able to produce reads of 25 base pair length.] |
| obsolete_Other immunodeficiency syndrome due to defects in adaptive immunity | Orphanet_331217 | |
| obsolete_congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | Orphanet_369861 | |
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type C | Orphanet_369867 | |
| Distal hereditary motor neuropathy type 5 | Orphanet_139536 | |
| Zinnia violacea | NCBITaxon_34245 |