MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Methylcobalamin deficiency type cblG

ORPHA:2170Клин. подтип
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. подтип
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblC

ORPHA:79282Клин. подтип
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblD

ORPHA:79283Клин. подтип
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblJ

ORPHA:369955Клин. подтип
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblX

ORPHA:369962Клин. подтип
X-linked recessive

Methylmalonic acidemia without homocystinuria

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

Methylmalonic aciduria due to transcobalamin receptor defect

ORPHA:280183Биоаномалия
Autosomal recessive

Mevalonate kinase deficiency

ORPHA:309025Заболевание
Not applicable

Mevalonic aciduria

ORPHA:29Клин. подтип
Autosomal recessive

MiT family translocation renal cell carcinoma

ORPHA:319308Заболевание

Micro syndrome

ORPHA:2510Мальформация
Autosomal recessive

Microbrachycephaly-ptosis-cleft lip syndrome

ORPHA:2511Мальформация
Autosomal recessive

Microcephalic cortical malformations-short stature due to RTTN deficiency

ORPHA:468631Мальформация
Autosomal recessive

Microcephalic osteodysplastic dysplasia, Saul-Wilson type

ORPHA:85172Заболевание
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism type II

ORPHA:2637Мальформация
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism types I and III

ORPHA:2636Мальформация
Autosomal recessive

Microcephalic primordial dwarfism due to ZNF335 deficiency

ORPHA:329228Мальформация
Autosomal recessive

Microcephalic primordial dwarfism, Dauber type

ORPHA:319675Мальформация
Autosomal recessive

Microcephalic primordial dwarfism, Montreal type

ORPHA:2617Мальформация

Microcephalic primordial dwarfism, Toriello type

ORPHA:2643Мальформация

Microcephalic primordial dwarfism-insulin resistance syndrome

ORPHA:436182Мальформация
Autosomal recessive