MedGen

An inflammatory process in the pituitary gland. [from NCI]

Any abnormality of the cardiovascular system. [from HPO]

Age at menarche is a marker of timing of puberty in females. It varies widely between individuals and is a heritable trait (summary by Perry et al., 2014). Genetic Heterogeneity of Age at Menarche Age at menarche has been associated with variation on chromosome 22q13. Other quantitative trait loci (QTLs) associated with age at menarche include MENAQ2 (612882) on chromosome 6q21 and MENAQ3 (612883) on chromosome 9q31. [from OMIM]

Growth hormone-producing pituitary neuroendocrine tumor that has spread from its original site of growth to another anatomic site. [from NCI]

A malignant neoplasm that occurs in the diencephalon. [from NCI]

A malignant neoplasm that arises from the ovary. It is characterized by the presence of an invasive malignant urothelial-type cellular component and nests of benign urothelial-type cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good. [from NCI]

An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. [from ORDO]

An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. [from ORDO]

Obesity due to mutation in the MC4R gene is the most common cause of monogenic obesity. Patients have early-onset severe obesity and hyperphagia (Farooqi et al., 2003). [from OMIM]

A benign or malignant neoplasm arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Primary cardiac neoplasms are rare in children. The vast majority of primary cardiac neoplasms in children are benign, whilst approximately 10% are malignant. In contrast, the majority of secondary neoplasms are malignant. [from SNOMEDCT_US]