Rare Disease Index

cancer of the penis

penis carcinoma that has material basis in squamous cells

Congenital variation of genital configuration

human disease

disease

sex chromosome aneuploidy where a female has three additional X chromosomes

an inborn error of metabolism characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day

chemical compound

Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect

medical condition

due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth

benign nerve tumor

fevers of unknown etiology recurring over months or years

human disease

PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis

human disease

human disease

human disease

human disease

human disease

human disease

Human disease

Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism

nervous system disease located in nerves or nerve cells

human disease

human disease

human disease

small round cell tumor with neural differentiation arising from the soft tissues or bone

Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth