All terms in MONDO_CLINGEN

Label Id Description
mucopolysaccharidosis type 6 MONDO_0009661 [Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.]
syndromic X-linked intellectual disability Snyder type MONDO_0010664 [Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.]
disorder of polyamine metabolism MONDO_0800159 [An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process.]
Bohring-Opitz syndrome MONDO_0011510 [Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.]
Hermansky-Pudlak syndrome 2 MONDO_0011997 [A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.]
disorder of peptide and amine metabolism MONDO_0100473 [An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.]
Brooke-Spiegler syndrome MONDO_0011512 [Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.]
pure red-cell aplasia MONDO_0001705 [A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia.]
color vision disorder MONDO_0001703 [The absence of or defect in the perception of colors.]
blindness (disorder) MONDO_0001941 [The lack of vision. It is caused by neurological or physiological factors.]
TPM2-related myopathy MONDO_0100196 [A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.]
familial intrahepatic cholestasis MONDO_0017290 [An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.]
intrahepatic cholestasis MONDO_0019072 [A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver.]
neutrophil immunodeficiency syndrome MONDO_0011988 [A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.]
functional neutrophil defect MONDO_0015978
T-B- severe combined immunodeficiency MONDO_0017855 [T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.]
familial hypobetalipoproteinemia 2 MONDO_0011505 [Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.]
hypobetalipoproteinemia MONDO_0017774 [A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.]
disorder of galactose and fructose metabolism MONDO_0800152 [An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.]
urea cycle disorder or inherited hyperammonemia MONDO_0800153 [A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).]