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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Autosomal recessive spastic paraplegia type 9B

ORPHA:447760Заболевание
Autosomal recessive

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

ORPHA:95433Заболевание
Autosomal recessive

Autosomal recessive spondylocostal dysostosis

ORPHA:2311Порок
Autosomal recessive

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

ORPHA:401979Порок
Autosomal recessive

Autosomal recessive syndromic cerebellar ataxia

ORPHA:98099Кат.
Autosomal recessive

Autosomal semi-dominant severe lipodystrophic laminopathy

ORPHA:280365Заболевание
Semi-dominant

Autosomal spastic paraplegia type 18

ORPHA:209951Заболевание
Autosomal dominant, Autosomal recessive

Autosomal spastic paraplegia type 30

ORPHA:101010Заболевание
Autosomal dominant, Autosomal recessive

Autosomal spastic paraplegia type 58

ORPHA:397946Заболевание
Autosomal dominant, Autosomal recessive

Autosomal spastic paraplegia type 72

ORPHA:401849Заболевание
Autosomal dominant, Autosomal recessive

Autosomal systemic lupus erythematosus

ORPHA:300345Заболевание
Autosomal dominant, Autosomal recessive

Autosomal thrombocytopenia with normal platelets

ORPHA:168629Этиол. подт.
Autosomal dominant, Autosomal recessive

Avian influenza

ORPHA:454836Заболевание
Not applicable

Axenfeld anomaly

ORPHA:98978Морф.
Autosomal dominant

Axenfeld-Rieger syndrome

ORPHA:782Порок
Autosomal dominant

Axial mesodermal dysplasia spectrum

ORPHA:1834Порок

Axial spondylometaphyseal dysplasia

ORPHA:168549Заболевание
Autosomal recessive

Aymé-Gripp syndrome

ORPHA:1272Порок
Autosomal recessive

B-cell chronic lymphocytic leukemia

ORPHA:67038Заболевание
Multigenic/multifactorial, Not applicable

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

ORPHA:567502Заболевание
Autosomal dominant

B-cell non-Hodgkin lymphoma

ORPHA:171915Кат.

B-cell prolymphocytic leukemia

ORPHA:86852Заболевание

B-lymphoblastic leukemia/lymphoma with hyperdiploidy

ORPHA:585936Этиол. подт.

B-lymphoblastic leukemia/lymphoma with hypodiploidy

ORPHA:585942Этиол. подт.