Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| thoracolumbosacral spina bifida cystica | MONDO_0017071 | |
| lumbosacral spina bifida cystica | MONDO_0017072 | |
| cervical spina bifida cystica | MONDO_0017073 | |
| cervicothoracic spina bifida cystica | MONDO_0017074 | |
| 46,xx sex reversal 5 | MONDO_0030049 | |
| total spina bifida cystica | MONDO_0017070 | |
| menstrual cycle-dependent periodic fever | MONDO_0044660 | |
| Trichilemmal cyst | HP_0025246 | [Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.] |
| neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | MONDO_0030046 | |
| Liberfarb syndrome | MONDO_0030045 | [A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.] |
| harderoporphyria | MONDO_0030048 | |
| microcephaly, developmental delay, and brittle hair syndrome | MONDO_0030047 | |
| primary tethered cord syndrome | MONDO_0017086 | [Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.] |
| proteinuria, chronic benign | MONDO_0030042 | |
| Generalized hypotonia | HP_0001290 | [Generalized muscular hypotonia (abnormally low muscle tone).] |
| neurenteric cyst | MONDO_0017087 | |
| pseudo-TORCH syndrome 3 | MONDO_0030044 | |
| isolated amyelia | MONDO_0017088 | |
| isolated megalencephaly | MONDO_0017089 | [A megalencephaly (disease) that is not part of a larger syndrome.] |
| congenital disorder of glycosylation, type iit | MONDO_0030043 |