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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Classic hairy cell leukemia

ORPHA:58017Заболевание
Unknown

Classic heparin-induced thrombocytopenia

ORPHA:3325Заболевание
Not applicable

Classic maple syrup urine disease

ORPHA:268145Клин. подт.
Autosomal recessive

Classic medulloblastoma

ORPHA:251867Гист. подт.

Classic multiminicore myopathy

ORPHA:324604Клин. подт.
Autosomal recessive

Classic mycosis fungoides

ORPHA:2584Заболевание
Multigenic/multifactorial, Not applicable

Classic neuroendocrine tumor of appendix

ORPHA:329977Клин. подт.
Not applicable

Classic pantothenate kinase-associated neurodegeneration

ORPHA:216866Клин. подт.
Autosomal recessive

Classic progressive supranuclear palsy syndrome

ORPHA:240071Клин. подт.
Not applicable

Classic pyoderma gangrenosum

ORPHA:538863Клин. подт.
Multigenic/multifactorial

Classic stiff person syndrome

ORPHA:443192Клин. подт.
Not applicable

Classical Ehlers-Danlos syndrome

ORPHA:287Заболевание
Autosomal dominant

Classical-like Ehlers-Danlos syndrome type 1

ORPHA:230839Заболевание
Autosomal recessive

Classical-like Ehlers-Danlos syndrome type 2

ORPHA:536532Заболевание
Autosomal recessive

Clear cell adenocarcinoma of the ovary

ORPHA:398971Заболевание

Clear cell papillary renal cell carcinoma

ORPHA:404511Гист. подт.

Clear cell renal carcinoma

ORPHA:319276Заболевание
Not applicable

Clear cell sarcoma of kidney

ORPHA:457246Заболевание
Not applicable

Cleft hard palate

ORPHA:101023Морф.

Cleft lip and alveolus

ORPHA:141291Морф.
Multigenic/multifactorial

Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

ORPHA:508476Порок
Autosomal recessive

Cleft lip with or without cleft palate

ORPHA:1991Клин. гр.

Cleft lip/palate

ORPHA:199306Морф.
Multigenic/multifactorial

Cleft lip/palate-deafness-sacral lipoma syndrome

ORPHA:2003Порок
Unknown