MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Methylcobalamin deficiency type cblG

ORPHA:2170Kl. subt.
Autosomal recessive

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

ORPHA:308425Kr.
Autosomal recessive

Methylmalonic acidemia with homocystinuria

ORPHA:26Kr.
Autosomal recessive, X-linked recessive

Methylmalonic acidemia with homocystinuria type cblF

ORPHA:79284Kl. subt.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblC

ORPHA:79282Kl. subt.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblD

ORPHA:79283Kl. subt.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblJ

ORPHA:369955Kl. subt.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblX

ORPHA:369962Kl. subt.
X-linked recessive

Methylmalonic acidemia without homocystinuria

ORPHA:293355Kl. gruppe
Autosomal dominant, Autosomal recessive, X-linked dominant

Methylmalonic aciduria due to transcobalamin receptor defect

ORPHA:280183Bio-An.
Autosomal recessive

Mevalonate kinase deficiency

ORPHA:309025Kr.
Not applicable

Mevalonic aciduria

ORPHA:29Kl. subt.
Autosomal recessive

MiT family translocation renal cell carcinoma

ORPHA:319308Kr.

Micro syndrome

ORPHA:2510Malf.
Autosomal recessive

Microbrachycephaly-ptosis-cleft lip syndrome

ORPHA:2511Malf.
Autosomal recessive

Microcephalic cortical malformations-short stature due to RTTN deficiency

ORPHA:468631Malf.
Autosomal recessive

Microcephalic osteodysplastic dysplasia, Saul-Wilson type

ORPHA:85172Kr.
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism type II

ORPHA:2637Malf.
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism types I and III

ORPHA:2636Malf.
Autosomal recessive

Microcephalic primordial dwarfism due to ZNF335 deficiency

ORPHA:329228Malf.
Autosomal recessive

Microcephalic primordial dwarfism, Dauber type

ORPHA:319675Malf.
Autosomal recessive

Microcephalic primordial dwarfism, Montreal type

ORPHA:2617Malf.

Microcephalic primordial dwarfism, Toriello type

ORPHA:2643Malf.

Microcephalic primordial dwarfism-insulin resistance syndrome

ORPHA:436182Malf.
Autosomal recessive