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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Methylcobalamin deficiency type cblG

ORPHA:2170Клин. под.
Autosomal recessive

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

ORPHA:308425Ауру
Autosomal recessive

Methylmalonic acidemia with homocystinuria

ORPHA:26Ауру
Autosomal recessive, X-linked recessive

Methylmalonic acidemia with homocystinuria type cblF

ORPHA:79284Клин. под.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblC

ORPHA:79282Клин. под.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblD

ORPHA:79283Клин. под.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblJ

ORPHA:369955Клин. под.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblX

ORPHA:369962Клин. под.
X-linked recessive

Methylmalonic acidemia without homocystinuria

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

Methylmalonic aciduria due to transcobalamin receptor defect

ORPHA:280183Био аном.
Autosomal recessive

Mevalonate kinase deficiency

ORPHA:309025Ауру
Not applicable

Mevalonic aciduria

ORPHA:29Клин. под.
Autosomal recessive

MiT family translocation renal cell carcinoma

ORPHA:319308Ауру

Micro syndrome

ORPHA:2510Мальф.
Autosomal recessive

Microbrachycephaly-ptosis-cleft lip syndrome

ORPHA:2511Мальф.
Autosomal recessive

Microcephalic cortical malformations-short stature due to RTTN deficiency

ORPHA:468631Мальф.
Autosomal recessive

Microcephalic osteodysplastic dysplasia, Saul-Wilson type

ORPHA:85172Ауру
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism type II

ORPHA:2637Мальф.
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism types I and III

ORPHA:2636Мальф.
Autosomal recessive

Microcephalic primordial dwarfism due to ZNF335 deficiency

ORPHA:329228Мальф.
Autosomal recessive

Microcephalic primordial dwarfism, Dauber type

ORPHA:319675Мальф.
Autosomal recessive

Microcephalic primordial dwarfism, Montreal type

ORPHA:2617Мальф.

Microcephalic primordial dwarfism, Toriello type

ORPHA:2643Мальф.

Microcephalic primordial dwarfism-insulin resistance syndrome

ORPHA:436182Мальф.
Autosomal recessive