Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| arachnodactyly-intellectual disability-dysmorphism syndrome | MONDO_0015235 | [Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.] |
| Hereditary central diabetes insipidus | Orphanet_30925 | [Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.] |
| Primary hypomagnesemia with secondary hypocalcemia | Orphanet_30924 | [Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.] |
| anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome | MONDO_0015230 | [Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.] |
| acute myeloid leukemia with CEBPA somatic mutations | MONDO_0017894 | [Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).] |
| familial papillary or follicular thyroid carcinoma | MONDO_0017895 | [A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients.] |
| familial nonmedullary thyroid carcinoma | MONDO_0017896 | [Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.] |
| arachnodactyly-abnormal ossification-intellectual disability syndrome | MONDO_0015234 | [Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.] |
| polycystic kidney disease 6 with or without polycystic liver disease | MONDO_0054842 | [Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.] |
| caudal appendage-deafness syndrome | MONDO_0015233 | [Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.] |
| radial deficiency-tibial hypoplasia syndrome | MONDO_0015232 | |
| autosomal recessive myogenic arthrogryposis multiplex congenita | MONDO_0017892 | [Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.] |
| charcot-marie-tooth disease, axonal, type 2DD | MONDO_0054833 | |
| intellectual disability, autosomal dominant 57 | MONDO_0054837 | |
| neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | MONDO_0030866 | |
| arthrogryposis-like syndrome | MONDO_0015241 | [Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.] |
| digitotalar dysmorphism | MONDO_0015240 | [Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.] |
| peeling skin syndrome 6 | MONDO_0054852 | |
| developmental and epileptic encephalopathy, 66 | MONDO_0054845 | |
| childhood cerebellar neoplasm | MONDO_0003263 | [A neoplasm that affects the cerebellum and occurs during childhood.] |