Disease Directory

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Showing 7,441-7,460 of 10,888 diseases

familial cavitary optic disk anomaly

MONDO:0012687

Rare

3 Trials

MMP19

familial cervical artery dissection

MONDO:0018212

Rare

familial chilblain lupus

MONDO:0018827

Rare

1 PAG

Familial chilblain lupus is a rare genetic form of chilblain lupus. This condition is caused by an inherited modification in the individual's genome,...

TREX1SAMHD1

familial chronic myelocytic leukemia-like syndrome

MONDO:0010809

Rare

Familial chronic myelocytic leukemia-like syndrome is a form of chronic myeloid leukemia that presents in early infancy and is distinguished by the ab...

familial chylomicronemia syndrome

MONDO:0018637

Rare

5 Trials

Familial chylomicronemia syndrome is a rare autosomal recessive disorder of fat metabolism characterized by the accumulation of chylomicrons in the bl...

LMF1LPLGPIHBP1+1

familial clubfoot due to 17q23.1q23.2 microduplication

MONDO:0013329

Rare

familial clubfoot due to 5q31 microdeletion

MONDO:0017382

Rare

familial clubfoot due to PITX1 point mutation

MONDO:0017383

Rare

familial clubfoot with or without associated lower limb anomalies

MONDO:0016046

Rare

PITX1

familial cold autoinflammatory syndrome

MONDO:0018768

Rare

2 Trials

Familial cold autoinflammatory syndrome, also known as familial cold urticaria or familial cold urticaria syndrome, is the mildest form of cryopyrin-a...

NLRP3NLRC4PLCG2+1

familial cold autoinflammatory syndrome 1

MONDO:0007349

Rare

2 Trials

Familial cold autoinflammatory syndrome 1 is an inherited disorder in which exposure to cold triggers an abnormal inflammatory response. It is caused...

NLRP3

familial cold autoinflammatory syndrome 2

MONDO:0012724

Rare

NLRP12

familial cold autoinflammatory syndrome 3

MONDO:0013766

Rare

PLCG2

familial cold autoinflammatory syndrome 4

MONDO:0014498

Rare

NLRC4

familial colorectal cancer

MONDO:0023113

Rare

50 Trials

Familial colorectal cancer refers to the occurrence of colon cancer in more than one member of a family, suggesting a hereditary predisposition in a s...

familial colorectal cancer type X

MONDO:0018604

Rare

familial congenital mirror movements

MONDO:0016558

Rare

DNAL4RAD51NTN1

familial congenital nasolacrimal duct obstruction

MONDO:0007871

Rare

Familial congenital nasolacrimal duct obstruction is a rare condition that affects the tear drainage system of the eye, leading to chronic tearing and...

IGSF3

familial congenital palsy of trochlear nerve

MONDO:0007626

Rare

familial cutaneous collagenoma

MONDO:0007271

Rare

Familial cutaneous collagenoma is a connective tissue nevus that affects the skin, manifesting as multiple, flesh-colored nodules that appear symmetri...

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