MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Classic hairy cell leukemia

ORPHA:58017Заболевание
Unknown

Classic heparin-induced thrombocytopenia

ORPHA:3325Заболевание
Not applicable

Classic maple syrup urine disease

ORPHA:268145Клин. подтип
Autosomal recessive

Classic medulloblastoma

ORPHA:251867Гист. подтип

Classic multiminicore myopathy

ORPHA:324604Клин. подтип
Autosomal recessive

Classic mycosis fungoides

ORPHA:2584Заболевание
Multigenic/multifactorial, Not applicable

Classic neuroendocrine tumor of appendix

ORPHA:329977Клин. подтип
Not applicable

Classic pantothenate kinase-associated neurodegeneration

ORPHA:216866Клин. подтип
Autosomal recessive

Classic progressive supranuclear palsy syndrome

ORPHA:240071Клин. подтип
Not applicable

Classic pyoderma gangrenosum

ORPHA:538863Клин. подтип
Multigenic/multifactorial

Classic stiff person syndrome

ORPHA:443192Клин. подтип
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. подтип

Clear cell renal carcinoma

ORPHA:319276Заболевание
Not applicable

Clear cell sarcoma of kidney

ORPHA:457246Заболевание
Not applicable

Cleft hard palate

ORPHA:101023Морф. аномалия

Cleft lip and alveolus

ORPHA:141291Морф. аномалия
Multigenic/multifactorial

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

ORPHA:508476Мальформация
Autosomal recessive

Cleft lip with or without cleft palate

ORPHA:1991Клин. группа

Cleft lip/palate

ORPHA:199306Морф. аномалия
Multigenic/multifactorial

Cleft lip/palate-deafness-sacral lipoma syndrome

ORPHA:2003Мальформация
Unknown