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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Leber hereditary optic neuropathy

ORPHA:104Disease
Mitochondrial inheritance

Leber plus disease

ORPHA:99718Disease
Mitochondrial inheritance

Ledderhose disease

ORPHA:199251Disease

Left ventricular noncompaction

ORPHA:54260Disease
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive

Legg-Calvé-Perthes disease

ORPHA:2380Disease
Autosomal dominant, Multigenic/multifactorial

Legionnaires disease

ORPHA:549Disease
Not applicable

Leigh syndrome

ORPHA:506Disease
Autosomal recessive, Mitochondrial inheritance, X-linked recessive

Leiomyosarcoma

ORPHA:64720Disease
Not applicable

Leiomyosarcoma of the cervix uteri

ORPHA:213807Disease

Leishmaniasis

ORPHA:507Disease
Not applicable

Lemierre syndrome

ORPHA:137839Disease

Lennox-Gastaut syndrome

ORPHA:2382Disease
Autosomal dominant, Multigenic/multifactorial, Not applicable

Leprosy

ORPHA:548Disease
Multigenic/multifactorial

Leptospirosis

ORPHA:509Disease
Not applicable

Lesch-Nyhan syndrome

ORPHA:510Disease
X-linked recessive

Lethal acantholytic erosive disorder

ORPHA:158687Disease
Autosomal recessive

Lethal arteriopathy syndrome due to fibulin-4 deficiency

ORPHA:314718Disease
Autosomal recessive

Lethal ataxia with deafness and optic atrophy

ORPHA:1187Disease
X-linked recessive

Lethal infantile mitochondrial myopathy

ORPHA:254857Disease
Mitochondrial inheritance

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

ORPHA:478049Disease
Autosomal recessive

Leukocyte adhesion deficiency

ORPHA:2968Disease
Autosomal recessive

Leukoencephalopathy with bilateral anterior temporal lobe cysts

ORPHA:139444Disease
Unknown

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

ORPHA:137898Disease
Autosomal recessive

Leukoencephalopathy with calcifications and cysts

ORPHA:542310Disease
Autosomal recessive