All terms in MONDO_CLINGEN

Label Id Description
hypnic headache MONDO_0017181 [Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.]
neurovascular disorder MONDO_0043218 [A disorder of the nervous system related to a vascular etiology.]
brain disorder MONDO_0005560 [A disease affecting the brain or part of the brain.]
isolated growth hormone deficiency type III MONDO_0010615
isolated congenital growth hormone deficiency MONDO_0000050
hematopoietic and lymphoid cell neoplasm MONDO_0044881 [A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.]
hematopoietic and lymphoid system neoplasm MONDO_0002334 [Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003]
Prader-Willi syndrome MONDO_0008300 [Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.]
chromosomal disorder MONDO_0019040 [Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)]
congenital hypogonadotropic hypogonadism MONDO_0015770 [Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).]
lower respiratory tract disorder MONDO_0000270 [A disease involving the lower respiratory tract.]
malignant hyperthermia, susceptibility to MONDO_0800188 [An inherited susceptibility or predisposition to developing malignant hyperthermia.]
incontinentia pigmenti MONDO_0010631 [Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).]
congenital vitreoretinal dysplasia MONDO_0020247
immunodeficiency, common variable, 14 MONDO_0054691
myopathy, centronuclear, 6, with fiber-type disproportion MONDO_0054695
galactosemia MONDO_0018116 [Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.]
juvenile-onset Parkinson disease MONDO_0000828
young-onset Parkinson disease MONDO_0017279 [A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.]
Heyn-Sproul-Jackson syndrome MONDO_0032882