Disease Directory

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Showing 7,601-7,620 of 10,888 diseases

familial spontaneous pneumothorax

MONDO:0008259

Rare

FLCN

familial steroid-resistant nephrotic syndrome with sensorineural deafness

MONDO:0013836

Rare

1 Trials

Familial steroid-resistant nephrotic syndrome with sensorineural deafness is a very rare condition, affecting fewer than 1 in 1,000,000 people. It is...

COQ6

familial supernumerary nipples

MONDO:0008101

Rare

familial syringomyelia

MONDO:0018257

Rare

2 Trials

familial temporal lobe epilepsy 2

MONDO:0011965

Rare

familial temporal lobe epilepsy 3

MONDO:0012705

Rare

familial temporal lobe epilepsy 4

MONDO:0012706

Rare

familial temporal lobe epilepsy 5

MONDO:0013741

Rare

CPA6

familial temporal lobe epilepsy 6

MONDO:0014308

Rare

familial temporal lobe epilepsy 7

MONDO:0014639

Rare

familial temporal lobe epilepsy 8

MONDO:0014650

Rare

GAL

familial thoracic aortic aneurysm and aortic dissection

MONDO:0019625

Rare

PRKG1MYLKLOX+4

familial thrombocytosis

MONDO:0019111

Rare

2 Trials

Familial thrombocytosis, also known as hereditary thrombocytosis or thrombocythemia, is a condition characterized by a sustained elevation of platelet...

CALRSH2B3THPO+2

familial thrombomodulin anomalies

MONDO:0018047

Rare

familial thyroglossal duct cyst

MONDO:0008565

Rare

1 Trials

Familial thyroglossal duct cyst is a very rare inherited condition characterized by a small midline neck mass that measures up to 3 centimeters in dia...

familial thyroid dyshormonogenesis

MONDO:0010132

Rare

1 Trials

Familial thyroid dyshormonogenesis is a form of primary congenital hypothyroidism that results from inborn errors in thyroid hormone synthesis. This c...

TGDUOX2TPO+3

familial tumoral calcinosis

MONDO:0018891

Rare

1 Trials

Familial tumoral calcinosis is a phosphocalcic metabolism anomaly characterized by the formation of calcified masses in areas near the joints such as...

SAMD9GALNT3FGF23+1

familial vesicoureteral reflux

MONDO:0017329

Rare

TNXBSOX17ROBO2

familial visceral amyloidosis

MONDO:0007099

Rare

Familial visceral amyloidosis is an inherited condition that primarily affects the kidneys, often manifesting as renal amyloidosis and nephrotic syndr...

FGA

familial visceral myopathy

MONDO:0016829

Rare

2 Trials

MYH11ACTG2

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