Disease Directory

Trusted information across 10,888 rare diseases — plain language, always cited, free for everyone.

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Showing 8,501-8,520 of 10,888 diseases

hereditary spastic paraplegia 7

MONDO:0011803

Rare

1 Trials

Hereditary spastic paraplegia 7 is a condition that primarily affects motor function through progressive lower limb weakness and spasticity. It is ass...

SPG7

hereditary spastic paraplegia 72

MONDO:0014282

Rare

REEP2

hereditary spastic paraplegia 73

MONDO:0014568

Rare

CPT1C

hereditary spastic paraplegia 74

MONDO:0014644

Rare

IBA57

hereditary spastic paraplegia 75

MONDO:0014729

Rare

Hereditary spastic paraplegia 75 is a neurological disorder characterized by progressive spasticity and weakness of the lower limbs, along with severa...

MAG

hereditary spastic paraplegia 77

MONDO:0014882

Rare

FARS2

hereditary spastic paraplegia 8

MONDO:0011339

Rare

Hereditary spastic paraplegia 8 is a neurological disorder characterized by spasticity and impaired sensation in the lower limbs. The condition is cau...

WASHC5

hereditary spastic paraplegia 9A

MONDO:0011006

Rare

ALDH18A1

hereditary spherocytosis

MONDO:0019350

Rare

2 Trials

Hereditary spherocytosis is a congenital hemolytic anemia that affects the red blood cells, making them more spherical and prone to premature destruct...

SPTBSPTA1SLC4A1+2

hereditary spherocytosis type 1

MONDO:0008447

Rare

101 Trials

ANK1

hereditary spherocytosis type 2

MONDO:0000913

Rare

1 Trials

SPTB

hereditary spherocytosis type 3

MONDO:0010053

Rare

SPTA1

hereditary spherocytosis type 4

MONDO:0012981

Rare

SLC4A1

hereditary spherocytosis type 5

MONDO:0012985

Rare

EPB42

hereditary stomatocytosis

MONDO:0020102

Rare

2 Trials

Hereditary stomatocytosis is a condition affecting the red blood cells that is linked to genetic variants in several key genes. Variants in RHAG, SLC4...

RHAGSLC4A1ABCB6+1

hereditary thermosensitive neuropathy

MONDO:0011197

Rare

Hereditary thermosensitive neuropathy is a rare demyelinating disorder that affects both motor and sensory nerves. It is characterized by reversible e...

hereditary thrombocytopenia and hematologic cancer predisposition syndrome

MONDO:0011071

Rare

Hereditary thrombocytopenia and hematologic cancer predisposition syndrome is a condition that primarily affects blood cell production, leading to low...

ETV6RUNX1

hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

MONDO:0100083

Rare

1 Trials

Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 is a blood disorder that primarily affects platelet...

RUNX1

hereditary thrombocytosis with transverse limb defect

MONDO:0018000

Rare

hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

MONDO:0013143

Rare

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a condition affecting the blood’s ability to clot proper...

HRG

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