MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Isolated generalized anhidrosis with normal sweat glands

ORPHA:468666Заболевание
Autosomal recessive

Isolated geographic pattern capillary malformation

ORPHA:715345Морф. аномалия
Not applicable

Isolated glycerol kinase deficiency

ORPHA:408Заболевание
X-linked recessive

Isolated growth hormone deficiency type IA

ORPHA:231662Клин. подтип
Autosomal recessive

Isolated growth hormone deficiency type IB

ORPHA:231671Клин. подтип
Autosomal recessive

Isolated growth hormone deficiency type II

ORPHA:231679Клин. подтип
Autosomal dominant

Isolated growth hormone deficiency type III

ORPHA:231692Клин. подтип
X-linked recessive

Isolated growth hormone deficiency type IV

ORPHA:684247Клин. подтип
Autosomal recessive

Isolated hemihyperplasia

ORPHA:2128Морф. аномалия
Autosomal dominant

Isolated hereditary congenital facial paralysis

ORPHA:306527Морф. аномалия
Autosomal dominant, Autosomal recessive

Isolated humero-radial synostosis

ORPHA:3265Морф. аномалия
Autosomal dominant, Autosomal recessive

Isolated humero-radio-ulnar synostosis

ORPHA:3266Морф. аномалия
Unknown

Isolated humero-ulnar synostosis

ORPHA:94056Морф. аномалия
Not applicable

Isolated hyperchlorhidrosis

ORPHA:542657Заболевание
Autosomal recessive

Isolated jejuno-ileal duplication

ORPHA:662480Клин. подтип
Not applicable

Isolated left bronchial isomerism

ORPHA:649029Морф. аномалия

Isolated lissencephaly type 1 without known genetic defects

ORPHA:1084Заболевание
Unknown

Isolated megalencephaly

ORPHA:2477Мальформация
Autosomal recessive

Isolated melanotic schwannoma

ORPHA:590539Заболевание

Isolated mesenteric vein thrombosis

ORPHA:583861Заболевание

Isolated micronodular adrenocortical disease

ORPHA:647782Заболевание

Isolated microphthalmia-anophthalmia-coloboma

ORPHA:2542Клин. группа
Autosomal dominant, Autosomal recessive, X-linked recessive

Isolated multiple intestinal atresia

ORPHA:2300Морф. аномалия
Autosomal recessive

Isolated nail clubbing

ORPHA:217059Морф. аномалия
Autosomal dominant, Autosomal recessive