Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_familial syringomyelia | Orphanet_370034 | |
| epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | MONDO_0015006 | |
| lymphatic malformation 7 | MONDO_0015009 | |
| intellectual disability-short stature-hypertelorism syndrome | MONDO_0017668 | [Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.] |
| obsolete disease with diffuse palmoplantar keratoderma as a major feature | MONDO_0017669 | |
| obsolete inherited tremor disorder | MONDO_0017663 | |
| Hyperkeratotic papule | HP_0045059 | [A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).] |
| obsolete rare genetic disease with myoclonus as a major feature | MONDO_0017665 | |
| dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | MONDO_0015003 | |
| obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease | MONDO_0017661 | |
| obsolete_benign partial infantile seizures | Orphanet_166311 | |
| focal acral hyperkeratosis | MONDO_0017677 | |
| atypical glycine encephalopathy | MONDO_0015010 | [Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.] |
| glycine encephalopathy | MONDO_0011612 | [Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.] |
| obsolete disease with focal palmoplantar keratoderma as a major feature | MONDO_0017674 | [OBSOLETE. A disease in which focal palmoplantar keratoderma is a major feature..] |
| coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | MONDO_0015014 | |
| obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature | MONDO_0017671 | |
| microgram per milliliter | UO_0000274 | |
| nanogram per milliliter | UO_0000275 | |
| milligram per liter | UO_0000273 |