MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Reis-Bücklers corneal dystrophy

ORPHA:98961Заболевание
Autosomal dominant

Relapsing fever

ORPHA:91547Заболевание
Not applicable

Relapsing polychondritis

ORPHA:728Заболевание
Unknown

Renal medullary carcinoma

ORPHA:319319Заболевание

Renal nutcracker syndrome

ORPHA:71273Заболевание
Unknown

Renal tubulopathy-encephalopathy-liver failure syndrome

ORPHA:254902Заболевание
Autosomal recessive

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ORPHA:100057Заболевание
Multigenic/multifactorial, Not applicable

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha

ORPHA:566231Заболевание
Autosomal dominant

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta

ORPHA:566243Заболевание
Autosomal recessive

Resistance to thyrotropin-releasing hormone syndrome

ORPHA:99832Заболевание
Autosomal recessive

Respiratory bronchiolitis-interstitial lung disease syndrome

ORPHA:79127Заболевание
Not applicable

Restrictive dermopathy

ORPHA:1662Заболевание
Autosomal dominant, Autosomal recessive

Reticular dysgenesis

ORPHA:33355Заболевание
Autosomal recessive

Reticular dysgenesis-like severe combined immunodeficiency

ORPHA:688543Заболевание
Autosomal dominant

Reticular dystrophy of the retinal pigment epithelium

ORPHA:99002Заболевание
Autosomal recessive, Unknown

Reticulate acropigmentation of Kitamura

ORPHA:178307Заболевание
Autosomal dominant

Retiform hemangioendothelioma

ORPHA:458763Заболевание
Not applicable

Retinal capillary malformation

ORPHA:71213Заболевание
Autosomal dominant

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

ORPHA:397758Заболевание
Autosomal dominant

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ORPHA:313800Заболевание
Autosomal dominant

Retinal macular dystrophy type 2

ORPHA:319640Заболевание
Autosomal dominant

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

ORPHA:247691Заболевание
Autosomal dominant

Retinitis pigmentosa

ORPHA:791Заболевание
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

ORPHA:436245Заболевание
Autosomal recessive