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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Methylcobalamin deficiency type cblG

ORPHA:2170Клин. подт.
Autosomal recessive

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

ORPHA:308425Заболевание
Autosomal recessive

Methylmalonic acidemia with homocystinuria

ORPHA:26Заболевание
Autosomal recessive, X-linked recessive

Methylmalonic acidemia with homocystinuria type cblF

ORPHA:79284Клин. подт.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblC

ORPHA:79282Клин. подт.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblD

ORPHA:79283Клин. подт.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblJ

ORPHA:369955Клин. подт.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblX

ORPHA:369962Клин. подт.
X-linked recessive

Methylmalonic acidemia without homocystinuria

ORPHA:293355Клин. гр.
Autosomal dominant, Autosomal recessive, X-linked dominant

Methylmalonic aciduria due to transcobalamin receptor defect

ORPHA:280183Биоаном.
Autosomal recessive

Mevalonate kinase deficiency

ORPHA:309025Заболевание
Not applicable

Mevalonic aciduria

ORPHA:29Клин. подт.
Autosomal recessive

MiT family translocation renal cell carcinoma

ORPHA:319308Заболевание

Micro syndrome

ORPHA:2510Порок
Autosomal recessive

Microbrachycephaly-ptosis-cleft lip syndrome

ORPHA:2511Порок
Autosomal recessive

Microcephalic cortical malformations-short stature due to RTTN deficiency

ORPHA:468631Порок
Autosomal recessive

Microcephalic osteodysplastic dysplasia, Saul-Wilson type

ORPHA:85172Заболевание
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism type II

ORPHA:2637Порок
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism types I and III

ORPHA:2636Порок
Autosomal recessive

Microcephalic primordial dwarfism due to ZNF335 deficiency

ORPHA:329228Порок
Autosomal recessive

Microcephalic primordial dwarfism, Dauber type

ORPHA:319675Порок
Autosomal recessive

Microcephalic primordial dwarfism, Montreal type

ORPHA:2617Порок

Microcephalic primordial dwarfism, Toriello type

ORPHA:2643Порок

Microcephalic primordial dwarfism-insulin resistance syndrome

ORPHA:436182Порок
Autosomal recessive