All terms in MONDO_CLINGEN

Label Id Description
retinal cell neoplasm MONDO_0024341 [A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.]
familial or sporadic hemiplegic migraine MONDO_0018925 [Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).]
migraine with aura MONDO_0005475 [A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.]
glutamate pyruvate transaminase 2 deficiency MONDO_0014567
inherited disease susceptibility MONDO_0020573 [A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.]
ABCD3 congenital bile acid synthesis defect MONDO_0014564 [Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.]
congenital bile acid synthesis defect MONDO_0018841
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO_0014563
mitochondrial disease MONDO_0044970
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO_0012383 [The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21.]
intellectual disability-sparse hair-brachydactyly syndrome MONDO_0011053 [Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.]
BAFopathy MONDO_0700120 [Disorder caused by mutations in the various subunits composing the BAF complex.]
thyroid cancer MONDO_0002108 [A malignant neoplasm involving the thyroid gland]
thyroid tumor MONDO_0015074 [A benign or malignant neoplasm affecting the thyroid gland.]
SMARCB1-deficient kidney medullary carcinoma MONDO_0100534 [A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney.]
kidney medullary carcinoma MONDO_0006260 [A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis.]
mucopolysaccharidosis type 4 MONDO_0018938 [Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.]
bone disorder MONDO_0005381 [Diseases of bones.]
mucopolysaccharidosis MONDO_0019249 [A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.]
mucopolysaccharidosis type 3 MONDO_0018937 [Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterized by severe and rapid intellectual deterioration.]