MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Multifocal sporadic venous malformation

ORPHA:714806Morph.
Not applicable

Multiloculated renal cyst

ORPHA:97366Morph.

Multiminicore myopathy

ORPHA:598Disease
Autosomal dominant, Autosomal recessive

Multinodular goiter-cystic kidney-polydactyly syndrome

ORPHA:2091Malform.
Autosomal dominant

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

ORPHA:500135Malform.
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency

ORPHA:26791Disease
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency, mild type

ORPHA:394532Clin. sub.
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

ORPHA:394529Clin. sub.
Autosomal recessive

Multiple benign circumferential skin creases on limbs

ORPHA:2505Disease
Autosomal dominant, Autosomal recessive

Multiple carboxylase deficiency

ORPHA:148Clin. grp.
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome

ORPHA:280633Malform.
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

ORPHA:300496Malform.
X-linked recessive

Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

ORPHA:659904Malform.
Autosomal dominant

Multiple endocrine neoplasia

ORPHA:276161Clin. grp.
Autosomal dominant, Not applicable

Multiple endocrine neoplasia type 1

ORPHA:652Disease
Autosomal dominant, Not applicable

Multiple endocrine neoplasia type 2

ORPHA:653Disease
Autosomal dominant

Multiple endocrine neoplasia type 2A

ORPHA:247698Clin. sub.
Autosomal dominant

Multiple endocrine neoplasia type 2B

ORPHA:247709Clin. sub.
Autosomal dominant

Multiple endocrine neoplasia type 4

ORPHA:276152Disease
Autosomal dominant, Not applicable

Multiple epiphyseal dysplasia

ORPHA:251Clin. grp.
Autosomal dominant, Autosomal recessive

Multiple epiphyseal dysplasia due to collagen 9 anomaly

ORPHA:166002Disease
Autosomal dominant

Multiple epiphyseal dysplasia type 1

ORPHA:93308Disease
Autosomal dominant

Multiple epiphyseal dysplasia type 4

ORPHA:93307Disease
Autosomal recessive

Multiple epiphyseal dysplasia type 5

ORPHA:93311Disease
Autosomal dominant