MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Methylcobalamin deficiency type cblG

ORPHA:2170Clin. sub.
Autosomal recessive

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

ORPHA:308425Disease
Autosomal recessive

Methylmalonic acidemia with homocystinuria

ORPHA:26Disease
Autosomal recessive, X-linked recessive

Methylmalonic acidemia with homocystinuria type cblF

ORPHA:79284Clin. sub.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblC

ORPHA:79282Clin. sub.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblD

ORPHA:79283Clin. sub.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblJ

ORPHA:369955Clin. sub.
Autosomal recessive

Methylmalonic acidemia with homocystinuria, type cblX

ORPHA:369962Clin. sub.
X-linked recessive

Methylmalonic acidemia without homocystinuria

ORPHA:293355Clin. grp.
Autosomal dominant, Autosomal recessive, X-linked dominant

Methylmalonic aciduria due to transcobalamin receptor defect

ORPHA:280183Bio anom.
Autosomal recessive

Mevalonate kinase deficiency

ORPHA:309025Disease
Not applicable

Mevalonic aciduria

ORPHA:29Clin. sub.
Autosomal recessive

MiT family translocation renal cell carcinoma

ORPHA:319308Disease

Micro syndrome

ORPHA:2510Malform.
Autosomal recessive

Microbrachycephaly-ptosis-cleft lip syndrome

ORPHA:2511Malform.
Autosomal recessive

Microcephalic cortical malformations-short stature due to RTTN deficiency

ORPHA:468631Malform.
Autosomal recessive

Microcephalic osteodysplastic dysplasia, Saul-Wilson type

ORPHA:85172Disease
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism type II

ORPHA:2637Malform.
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism types I and III

ORPHA:2636Malform.
Autosomal recessive

Microcephalic primordial dwarfism due to ZNF335 deficiency

ORPHA:329228Malform.
Autosomal recessive

Microcephalic primordial dwarfism, Dauber type

ORPHA:319675Malform.
Autosomal recessive

Microcephalic primordial dwarfism, Montreal type

ORPHA:2617Malform.

Microcephalic primordial dwarfism, Toriello type

ORPHA:2643Malform.

Microcephalic primordial dwarfism-insulin resistance syndrome

ORPHA:436182Malform.
Autosomal recessive