All terms in MONDO_CLINGEN

Label Id Description
autoimmune disease, multisystem, infantile-onset MONDO_0000213
autoimmune disease MONDO_0007179 [A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).]
neonatal/infantile epilepsy syndrome MONDO_0100022 [An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.]
epilepsy syndrome MONDO_0015650
sarcosinemia MONDO_0010008 [Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.]
inborn disorder of serine family metabolism MONDO_0019239 [An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.]
disorder of methylamine metabolism MONDO_0100477 [An inherited metabolic disease that has its basis in the disruption of methylamine metabolic process.]
hereditary spastic paraplegia 8 MONDO_0011339 [Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.]
pure hereditary spastic paraplegia MONDO_0015149
bone marrow cancer MONDO_0021138 [Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003]
bone neoplasm MONDO_0019060 [A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.]
bone marrow neoplasm MONDO_0005374 [Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow).]
TELO2-related intellectual disability-neurodevelopmental disorder MONDO_0014848
partial monosomy of the long arm of chromosome 9 MONDO_0016908
Legius syndrome MONDO_0012669 [Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.]
beta-thalassemia HBB/LCRB MONDO_0013517 [Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.]
Costello syndrome MONDO_0009026 [Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.]
hereditary chronic pancreatitis MONDO_0008185 [Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.]
chronic pancreatitis MONDO_0005003 [A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.]
cranioectodermal dysplasia MONDO_0009032 [Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).]