Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| Nonepidermolytic palmoplantar hyperkeratosis | HP_0007404 | [Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis.] |
| Epidermal thickening | HP_0011368 | [Thickening of the epidermal layer of the skin.] |
| SLC39A8-CDG | MONDO_0014746 | |
| obsolete_cerebral cortical dysplasia | Orphanet_268950 | |
| obsolete_adult-onset nemaline myopathy | Orphanet_171442 | |
| Haplochromis burtoni | NCBITaxon_8153 | |
| Arthroderma gypseum | NCBITaxon_63402 | |
| Muscle filaminopathy | Orphanet_171445 | |
| intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | MONDO_0026733 | |
| Basilicata-Akhtar syndrome | MONDO_0026730 | |
| Arthroderma otae | NCBITaxon_63405 | |
| urethra squamous cell carcinoma | MONDO_0002764 | [A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra.] |
| obsolete_acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | Orphanet_217371 | |
| Arthroderma benhamiae | NCBITaxon_63400 | |
| obsolete_unilateral polymicrogyria | Orphanet_268943 | |
| autosomal recessive optic atrophy | MONDO_0014753 | |
| positive regulation of defecation | GO_2000294 | [Any process that activates or increases the frequency, rate or extent of defecation.] |
| regulation of defecation | GO_2000292 | [Any process that modulates the frequency, rate or extent of defecation.] |
| obsolete_unilateral focal polymicrogyria | Orphanet_268947 | |
| macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | MONDO_0014757 |