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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Classic hairy cell leukemia

ORPHA:58017Disease
Unknown

Classic heparin-induced thrombocytopenia

ORPHA:3325Disease
Not applicable

Classic maple syrup urine disease

ORPHA:268145Clin. sub.
Autosomal recessive

Classic medulloblastoma

ORPHA:251867Hist. sub.

Classic multiminicore myopathy

ORPHA:324604Clin. sub.
Autosomal recessive

Classic mycosis fungoides

ORPHA:2584Disease
Multigenic/multifactorial, Not applicable

Classic neuroendocrine tumor of appendix

ORPHA:329977Clin. sub.
Not applicable

Classic pantothenate kinase-associated neurodegeneration

ORPHA:216866Clin. sub.
Autosomal recessive

Classic progressive supranuclear palsy syndrome

ORPHA:240071Clin. sub.
Not applicable

Classic pyoderma gangrenosum

ORPHA:538863Clin. sub.
Multigenic/multifactorial

Classic stiff person syndrome

ORPHA:443192Clin. sub.
Not applicable

Classical Ehlers-Danlos syndrome

ORPHA:287Disease
Autosomal dominant

Classical-like Ehlers-Danlos syndrome type 1

ORPHA:230839Disease
Autosomal recessive

Classical-like Ehlers-Danlos syndrome type 2

ORPHA:536532Disease
Autosomal recessive

Clear cell adenocarcinoma of the ovary

ORPHA:398971Disease

Clear cell papillary renal cell carcinoma

ORPHA:404511Hist. sub.

Clear cell renal carcinoma

ORPHA:319276Disease
Not applicable

Clear cell sarcoma of kidney

ORPHA:457246Disease
Not applicable

Cleft hard palate

ORPHA:101023Morph.

Cleft lip and alveolus

ORPHA:141291Morph.
Multigenic/multifactorial

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

ORPHA:508476Malform.
Autosomal recessive

Cleft lip with or without cleft palate

ORPHA:1991Clin. grp.

Cleft lip/palate

ORPHA:199306Morph.
Multigenic/multifactorial

Cleft lip/palate-deafness-sacral lipoma syndrome

ORPHA:2003Malform.
Unknown