All terms in MONDO_RARE

Label Id Description
autosomal recessive congenital ichthyosis MONDO_0017265 [Autosomal recessive form of inherited ichthyosis.]
acral self-healing collodion baby MONDO_0017268 [Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.]
X-linked ichthyosis syndrome MONDO_0017269 [X-linked form of inherited ichthyosis syndromic form.]
congenital oculomotor nerve palsy MONDO_0018599
nuclear oculomotor paralysis MONDO_0015083
premature ovarian failure 16 MONDO_0032881
secondary polyarteritis nodosa MONDO_0018594 [Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).]
polyarteritis nodosa MONDO_0019170 [Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.]
Heyn-Sproul-Jackson syndrome MONDO_0032882
primary polyarteritis nodosa MONDO_0018593
systemic polyarteritis nodosa MONDO_0018596 [Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.]
syndromic recessive X-linked ichthyosis MONDO_0017264 [Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.]
developmental and epileptic encephalopathy, 82 MONDO_0032880
single-organ polyarteritis nodosa MONDO_0018595 [Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common.]
ABeta2M amyloidosis MONDO_0018590
cutaneous polyarteritis nodosa MONDO_0018592 [Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.]
peripheral motor neuropathy, childhood-onset, biotin-responsive MONDO_0859255
motor peripheral neuropathy MONDO_0002316 [Inflammation or degeneration of the peripheral motor nerves.]
ITM2B amyloidosis MONDO_0018591
hereditary amyloidosis MONDO_0018634 [Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.]