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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Familial partial lipodystrophy, Köbberling type

ORPHA:79084Ауру
Autosomal dominant

Familial patent arterial duct

ORPHA:466729Морф.
Autosomal dominant

Familial peripheral male-limited precocious puberty

ORPHA:3000Ауру
Autosomal dominant

Familial platelet disorder with associated myeloid malignancy

ORPHA:71290Ауру
Autosomal dominant

Familial porencephaly

ORPHA:99810Этио. под.
Autosomal dominant

Familial porphyria cutanea tarda

ORPHA:443062Клин. под.
Autosomal dominant

Familial primary hyperparathyroidism

ORPHA:2207Клин. топ
Autosomal dominant

Familial primary localized cutaneous amyloidosis

ORPHA:353220Ауру
Autosomal dominant

Familial progressive hyper- and hypopigmentation

ORPHA:280628Ауру
Autosomal dominant

Familial progressive hyperpigmentation

ORPHA:79146Ауру
Autosomal dominant

Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

ORPHA:488197Ауру
Autosomal dominant

Familial prostate cancer

ORPHA:1331Ауру
Not applicable

Familial pseudohyperkalemia

ORPHA:90044Ауру
Autosomal dominant

Familial pterygium of the conjunctiva

ORPHA:2989Морф.
Autosomal dominant

Familial reactive perforating collagenosis

ORPHA:79147Ауру

Familial recurrent peripheral facial palsy

ORPHA:2809Ауру

Familial renal glucosuria

ORPHA:69076Ауру
Autosomal dominant, Autosomal recessive

Familial retinal arterial macroaneurysm

ORPHA:284247Мальф.
Autosomal recessive

Familial scaphocephaly syndrome, McGillivray type

ORPHA:168624Мальф.
Autosomal dominant

Familial schizencephaly

ORPHA:481986Этио. под.
Autosomal recessive

Familial spontaneous pneumothorax

ORPHA:2903Ауру
Autosomal dominant

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

ORPHA:506334Ауру
Autosomal recessive

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

ORPHA:280406Ауру
Autosomal recessive

Familial supernumerary nipples

ORPHA:2456Морф.