Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| retinal ciliopathy | MONDO_0022410 | |
| Bamforth-Lazarus syndrome | MONDO_0009437 | [Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.] |
| congenital hypothalamic hamartoma syndrome | MONDO_0009436 | [Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic.] |
| Pallister-Hall syndrome | MONDO_0007804 | [Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.] |
| syndromic X-linked intellectual disability Najm type | MONDO_0010417 | [Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.] |
| hypospadias-intellectual disability, Goldblatt type syndrome | MONDO_0009435 | [Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.] |
| hereditary spastic paraplegia 34 | MONDO_0010418 | [X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.] |
| hereditary hypophosphatemic rickets with hypercalciuria | MONDO_0009431 | [Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.] |
| ichthyosiform erythroderma, corneal involvement, and hearing loss | MONDO_0009440 | |
| thrombophilia, X-linked, due to factor 9 defect | MONDO_0010432 | [A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).] |
| nystagmus 6, congenital, X-linked | MONDO_0010435 | |
| umbilical vein | UBERON_0002066 | [The umbilical vein is a blood vessel present during fetal development that carries oxygenated blood from the placenta to the growing fetus. [WP,unvetted].] |
| obsolete_pituitary stalk interruption syndrome | Orphanet_95496 | |
| Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations | Orphanet_178025 | |
| Hypogonadotropic hypogonadism associated with other endocrinopathies | Orphanet_181390 | |
| Qualitative or quantitative defects of sarcoglycan | Orphanet_207052 | |
| Chlamydia trachomatis | NCBITaxon_813 | |
| Bacteroides thetaiotaomicron | NCBITaxon_818 | |
| Bacteroides fragilis | NCBITaxon_817 | |
| obsolete_qualitative or quantitative protein defects in neuromuscular diseases | Orphanet_207049 |