Rare Disease Index

Human disease

cell type benign neoplasm that has material basis in glial-type cells

Human disease

rare and benign tumor of the autonomic nerve fibers arising from neural crest sympathogonia

Human disease

lysosomal storage disease

gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and has material basis in mutation in the gene encoding beta-galactosidase-1

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

congenital disorder of digestive system

human disease

human disease

human disease

Human disease

Human disease

human disease

human disease

neuroendocrine neoplasm that involves the digestive system

Gastrointestinal stromal tumor is a rare mesenchymal neoplasm of the gastrointestinal tract driven most often by activating mutations in KIT or PDGFRA, with a minority associated with SDH deficiency or other drivers. Symptoms depend on tumor site and size and may include abdominal pain, bleeding, early satiety, or incidental discovery on imaging. It is uncommon overall, and targeted tyrosine kinase inhibitors are documented treatment options in mutation-specific settings.

organ system cancer located in gastrointestinal tract that is manifested in organs of the gastrointestinal system

disease involving the gastrointestinal tract

birth defect in which the baby's intestines extend outside of the body through a hole next to the belly button.

Gaucher disease is a lysosomal storage disorder caused by pathogenic variants in the GBA1 gene, leading to deficient glucocerebrosidase activity and accumulation of glucocerebroside in macrophages. Common features include hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and skeletal disease; neuronopathic forms can cause neurologic impairment. It is rare, with the non-neuronopathic type 1 form being the most common globally, and several enzyme replacement and substrate reduction therapies are documented.

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement

human disease characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body

Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22

Gaucher's disease characterized by absence of primary central nervous system involvement that has material basis in a mutation of GBA on chromosome 1q22

Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22

Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22

human disease

Human disease