All terms in MONDO_CLINGEN

Label Id Description
phagocytic cell dysfunction MONDO_0024627
defective phagocytic cell engulfment MONDO_0024626
epidermal disease MONDO_0019268 [A skin disease that involves the epidermis.]
hair anomaly MONDO_0019278
integumentary system disorder MONDO_0002051 [A disease involving the integumental system.]
erythrokeratoderma MONDO_0019270 [An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.]
bilateral polymicrogyria MONDO_0017091 [Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.]
polymicrogyria MONDO_0000087 [A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.]
amyotrophic lateral sclerosis type 15 MONDO_0010459 [Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.]
familial meningioma MONDO_0011789 [A meningioma that is transmitted from the parents to an offspring.]
osteogenesis imperfecta type 2 MONDO_0008147 [Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.]
osteogenesis imperfecta and a reduction of bone mineral density. MONDO_0800064 [A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.]
variable age onset epilepsy MONDO_0100036 [An epilepsy syndrome that has an onset during variable ages and stages of life.]
osteogenesis imperfecta type 4 MONDO_0008148 [Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).]
combined immunodeficiency due to DOCK8 deficiency MONDO_0009478 [Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).]
porphyrin metabolism disease MONDO_0037821 [A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.]
spinocerebellar ataxia type 29 MONDO_0007298 [Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.]
autosomal dominant cerebellar ataxia type I MONDO_0019792 [Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.]
osteogenesis imperfecta type 1 MONDO_0008146 [Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.]
CDKL5 disorder MONDO_0100039 [A monogenic disease that has material basis in mutation in the CDKL5 gene.]