Disease Directory

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Showing 8,801-8,820 of 10,888 diseases

hypertrophic cardiomyopathy 9

MONDO:0013412

Rare

2 Trials

Hypertrophic cardiomyopathy 9 is a heart condition marked by abnormal thickening of the heart muscle and is caused by mutations in the TTN gene. It re...

TTN

hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

MONDO:0017933

Rare

1 Trials

hypertrophic cardiomyopathy due to intensive athletic training

MONDO:0016332

Rare

Hypertrophic cardiomyopathy due to intensive athletic training is a condition affecting the heart, in which the heart muscle becomes abnormally thicke...

hypertrophic olivary degeneration

MONDO:0975885

Rare

1 Trials

hypertrophic or verrucous lupus erythematosus

MONDO:0019559

Rare

Hypertrophic or verrucous lupus erythematosus is a form of chronic cutaneous lupus characterized by thickened, wart-like skin lesions. This condition...

hypertrophic osteoarthropathy, primary, autosomal dominant

MONDO:0008172

Rare

SLCO2A1

hypertrophic osteoarthropathy, primary, autosomal recessive, 1

MONDO:0024546

Rare

HPGD

hypertrophic osteoarthropathy, primary, autosomal recessive, 2

MONDO:0013756

Rare

SLCO2A1

hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

MONDO:0013458

Rare

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a multisystem condition that affects metabolic balance, kidney function, and...

SARS2

hypervalinemia and hyperleucine-isoleucinemia

MONDO:0100058

Rare

BCAT2

hyperzincemia with functional zinc depletion

MONDO:0011174

Rare

Hyperzincemia with functional zinc depletion is an extremely rare genetic condition characterized by abnormal zinc metabolism and a propensity for inf...

PSTPIP1

hypnic headache

MONDO:0017181

Rare

Hypnic headache is a primary headache disorder in which the main symptom is headache that cannot be attributed to any known cause. It is defined by th...

hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

MONDO:0016574

Rare

hypoaldosteronism disease

MONDO:0015900

Rare

2 Trials

Hypoaldosteronism disease is a disorder of the endocrine system characterized by an insufficient production or action of the hormone aldosterone, whic...

hypoalphalipoproteinemia

MONDO:0017773

Rare

4 Trials

Hypoalphalipoproteinemia is a metabolic disorder characterized by a deficiency of high density (alpha) lipoprotein in the blood. The condition has bee...

ABCA1

hypoalphalipoproteinemia, primary, 1

MONDO:0011393

Rare

2 Trials

Hypoalphalipoproteinemia, primary, 1 is a condition affecting lipid metabolism, in which individuals have abnormally low levels of high density lipopr...

ABCA1

hypoalphalipoproteinemia, primary, 2

MONDO:0032766

Rare

APOA1

hypoalphalipoproteinemia, primary, 2, intermediate

MONDO:0859238

Rare

APOA1

hypobetalipoproteinemia

MONDO:0017774

Rare

2 Trials

Hypobetalipoproteinemia is a group of lipoprotein metabolism disorders characterized by permanently low levels of apolipoprotein B and LDL cholesterol...

ANGPTL3MTTPSAR1B+1

hypocalcemic rickets

MONDO:0017323

Rare

34 Trials

Hypocalcemic rickets is a group of inherited disorders that result in low blood calcium levels and impaired bone mineralization, leading to clinical f...

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