MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Familial partial lipodystrophy, Köbberling type

ORPHA:79084Заболевание
Autosomal dominant

Familial patent arterial duct

ORPHA:466729Морф. аномалия
Autosomal dominant

Familial peripheral male-limited precocious puberty

ORPHA:3000Заболевание
Autosomal dominant

Familial platelet disorder with associated myeloid malignancy

ORPHA:71290Заболевание
Autosomal dominant

Familial porencephaly

ORPHA:99810Этиол. подтип
Autosomal dominant

Familial porphyria cutanea tarda

ORPHA:443062Клин. подтип
Autosomal dominant

Familial primary hyperparathyroidism

ORPHA:2207Клин. группа
Autosomal dominant

Familial primary localized cutaneous amyloidosis

ORPHA:353220Заболевание
Autosomal dominant

Familial progressive hyper- and hypopigmentation

ORPHA:280628Заболевание
Autosomal dominant

Familial progressive hyperpigmentation

ORPHA:79146Заболевание
Autosomal dominant

Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

ORPHA:488197Заболевание
Autosomal dominant

Familial prostate cancer

ORPHA:1331Заболевание
Not applicable

Familial pseudohyperkalemia

ORPHA:90044Заболевание
Autosomal dominant

Familial pterygium of the conjunctiva

ORPHA:2989Морф. аномалия
Autosomal dominant

Familial reactive perforating collagenosis

ORPHA:79147Заболевание

Familial recurrent peripheral facial palsy

ORPHA:2809Заболевание

Familial renal glucosuria

ORPHA:69076Заболевание
Autosomal dominant, Autosomal recessive

Familial retinal arterial macroaneurysm

ORPHA:284247Мальформация
Autosomal recessive

Familial scaphocephaly syndrome, McGillivray type

ORPHA:168624Мальформация
Autosomal dominant

Familial schizencephaly

ORPHA:481986Этиол. подтип
Autosomal recessive

Familial spontaneous pneumothorax

ORPHA:2903Заболевание
Autosomal dominant

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

ORPHA:506334Заболевание
Autosomal recessive

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

ORPHA:280406Заболевание
Autosomal recessive

Familial supernumerary nipples

ORPHA:2456Морф. аномалия