Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| cardiac valvular dysplasia, X-linked | MONDO_0010753 | |
| congenital dyserythropoietic anemia type 3 | MONDO_0007109 | [Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.] |
| oculo-palato-cerebral syndrome | MONDO_0009769 | [Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.] |
| presumptive mesencephalic artery | UBERON_2001062 | [Precursor to mesencephalic artery.] |
| beta-thalassemia-X-linked thrombocytopenia syndrome | MONDO_0010745 | [Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.] |
| oculocerebral hypopigmentation syndrome, Cross type | MONDO_0009767 | [Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.] |
| posterior caudal vein | UBERON_2001063 | |
| frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | MONDO_0007105 | [Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.] |
| X-linked dystonia-parkinsonism | MONDO_0010747 | [X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.] |
| ocular motor apraxia, Cogan type | MONDO_0009764 | [Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.] |
| trigonocephaly-short stature-developmental delay syndrome | MONDO_0010749 | [Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.] |
| Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | Orphanet_101097 | |
| torticollis-keloids-cryptorchidism-renal dysplasia syndrome | MONDO_0010748 | [Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.] |
| familial primary localized cutaneous amyloidosis | MONDO_0007101 | |
| Norman-Roberts syndrome | MONDO_0009760 | [Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.] |
| microlissencephaly | MONDO_0015204 | [Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.] |
| obsolete_unilateral hemispheric polymicrogyria | Orphanet_101071 | |
| obsolete_Rothmund-Thomson syndrome | Orphanet_2909 | [Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.] |
| obsolete_Kindler syndrome | Orphanet_2908 | [Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.] |
| obsolete_hereditary acrokeratotic poikiloderma, Weary type | Orphanet_2907 |