Rare Disease Library

Metatropic dysplasia

Metatropic dwarfism

Methanol poisoning

Methemoglobinemia-related cyanosis

Methimazole embryofetopathy

Methimazole/carbimazole embryofetopathy · Methimazole/carbimazole embryopathy

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Methotrexate toxicity

Methotrexate-associated lymphoproliferative disorders

MTX-associated lymphoproliferative disorders · MTX-LPD

Methylcobalamin deficiency type cblDv1

Functional methionine synthase deficiency type cblDv1

Methylcobalamin deficiency type cblE

Functional methionine synthase deficiency type cblE

Methylcobalamin deficiency type cblG

Functional methionine synthase deficiency type cblG

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

MCEE deficiency · Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency

Methylmalonic acidemia with homocystinuria

Combined defect in adenosylcobalamin and methylcobalamin synthesis · Methylmalonic aciduria with homocystinuria

Methylmalonic acidemia with homocystinuria type cblF

CblF defect · Cobalamin F defect

Methylmalonic acidemia with homocystinuria, type cblC

CblC defect · Cobalamin C defect

Methylmalonic acidemia with homocystinuria, type cblD

CblD defect · Cobalamin D defect

Methylmalonic acidemia with homocystinuria, type cblJ

CblJ defects · Cobalamin J defect

Methylmalonic acidemia with homocystinuria, type cblX

Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX · Methylmalonic aciduria with homocystinuria, type cblX

Methylmalonic acidemia without homocystinuria

Methylmalonic aciduria without homocystinuria

Methylmalonic aciduria due to transcobalamin receptor defect

Methylmalonic acidemia, TCb1R type · Methylmalonic acidemia, TCbIR type

Mevalonate kinase deficiency

MKD

Mevalonic aciduria

Complete mevalonate kinase deficiency · MVA

MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome · Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

MGP-related spondyloepiphyseal dysplasia

MGP-related SED · Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

Micro syndrome

WARBM · Warburg micro syndrome

Microblepharon-ablephara syndrome

Microbrachycephaly-ptosis-cleft lip syndrome

Richieri Costa-Guion Almeida-Ramos syndrome

Microcephalic cortical malformations-short stature due to RTTN deficiency

Microcephalic osteodysplastic dysplasia, Saul-Wilson type

Microcephalic osteodysplastic primordial dwarfism type II

MOPD type II · Majewski osteodysplastic primordial dwarfism type II

Microcephalic osteodysplastic primordial dwarfism types I and III

MOPD types I and III · Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type

Microcephalic primordial dwarfism

Microcephalic primordial dwarfism due to ZNF335 deficiency

Microcephalic primordial dwarfism, Walsh type

Microcephalic primordial dwarfism-insulin resistance syndrome

Microcephalic primordial dwarfism, Dauber type

Microcephalic primordial dwarfism, Montreal type

Bird-headed dwarfism, Montreal type

Microcephalic primordial dwarfism, Toriello type

Microcephaly-albinism-digital anomalies syndrome

Castro Gago-Pombo-Novo syndrome

Microcephaly-brachydactyly-kyphoscoliosis syndrome

Viljoen-Kallis-Voges syndrome

Microcephaly-brain defect-spasticity-hypernatremia syndrome

Franek-Bocker-Kahlen syndrome

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Microcephaly-cardiac defect-lung malsegmentation syndrome

Ellis-Yale-Winter syndrome

Microcephaly-cardiomyopathy syndrome

Winship-Viljoen-Leary syndrome

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome

Microcephaly-cervical spine fusion anomalies syndrome

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

Microcephaly-complex motor and sensory axonal neuropathy syndrome