Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| congenital secretory chloride diarrhea 1 | DOID_0060296 | [A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene.] |
| complement component 2 deficiency | DOID_0060295 | [A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene.] |
| autosomal dominant chondrodysplasia punctata | DOID_0060293 | [A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance.] |
| conversion disorder | DOID_1768 | [A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause.] |
| X-linked chondrodysplasia punctata 1 | DOID_0060292 | [A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity.] |
| unilateral hyperactive labyrinth | DOID_1777 | |
| labyrinthine unilateral reactive loss | DOID_1776 | |
| toxic megacolon | DOID_1770 | |
| U3_five_prime_LTR_region | SO_0000429 | |
| U3_LTR_region | SO_0000424 | |
| U5_five_prime_LTR_region | SO_0000428 | |
| U5_LTR_region | SO_0000422 | |
| R_five_prime_LTR_region | SO_0000427 | |
| R_LTR_region | SO_0000423 | |
| early myoclonic encephalopathy | DOID_308 | |
| three_prime_LTR | SO_0000426 | |
| five_prime_LTR | SO_0000425 | |
| obsolete dyskinetic syndrome | DOID_306 | |
| squamous cell of epidermis | CL_0002190 | |
| three_prime_terminal_inverted_repeat | SO_0000421 |