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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Isolated generalized anhidrosis with normal sweat glands

ORPHA:468666Заболевание
Autosomal recessive

Isolated geographic pattern capillary malformation

ORPHA:715345Морф.
Not applicable

Isolated glycerol kinase deficiency

ORPHA:408Заболевание
X-linked recessive

Isolated growth hormone deficiency type IA

ORPHA:231662Клин. подт.
Autosomal recessive

Isolated growth hormone deficiency type IB

ORPHA:231671Клин. подт.
Autosomal recessive

Isolated growth hormone deficiency type II

ORPHA:231679Клин. подт.
Autosomal dominant

Isolated growth hormone deficiency type III

ORPHA:231692Клин. подт.
X-linked recessive

Isolated growth hormone deficiency type IV

ORPHA:684247Клин. подт.
Autosomal recessive

Isolated hemihyperplasia

ORPHA:2128Морф.
Autosomal dominant

Isolated hereditary congenital facial paralysis

ORPHA:306527Морф.
Autosomal dominant, Autosomal recessive

Isolated humero-radial synostosis

ORPHA:3265Морф.
Autosomal dominant, Autosomal recessive

Isolated humero-radio-ulnar synostosis

ORPHA:3266Морф.
Unknown

Isolated humero-ulnar synostosis

ORPHA:94056Морф.
Not applicable

Isolated hyperchlorhidrosis

ORPHA:542657Заболевание
Autosomal recessive

Isolated jejuno-ileal duplication

ORPHA:662480Клин. подт.
Not applicable

Isolated left bronchial isomerism

ORPHA:649029Морф.

Isolated lissencephaly type 1 without known genetic defects

ORPHA:1084Заболевание
Unknown

Isolated megalencephaly

ORPHA:2477Порок
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. гр.
Autosomal dominant, Autosomal recessive, X-linked recessive

Isolated multiple intestinal atresia

ORPHA:2300Морф.
Autosomal recessive

Isolated nail clubbing

ORPHA:217059Морф.
Autosomal dominant, Autosomal recessive