MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Multifocal sporadic venous malformation

ORPHA:714806Morph.
Not applicable

Multiloculated renal cyst

ORPHA:97366Morph.

Multiminicore myopathy

ORPHA:598Kr.
Autosomal dominant, Autosomal recessive

Multinodular goiter-cystic kidney-polydactyly syndrome

ORPHA:2091Malf.
Autosomal dominant

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

ORPHA:500135Malf.
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency

ORPHA:26791Kr.
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency, mild type

ORPHA:394532Kl. subt.
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

ORPHA:394529Kl. subt.
Autosomal recessive

Multiple benign circumferential skin creases on limbs

ORPHA:2505Kr.
Autosomal dominant, Autosomal recessive

Multiple carboxylase deficiency

ORPHA:148Kl. gruppe
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome

ORPHA:280633Malf.
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

ORPHA:300496Malf.
X-linked recessive

Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

ORPHA:659904Malf.
Autosomal dominant

Multiple endocrine neoplasia

ORPHA:276161Kl. gruppe
Autosomal dominant, Not applicable

Multiple endocrine neoplasia type 1

ORPHA:652Kr.
Autosomal dominant, Not applicable

Multiple endocrine neoplasia type 2

ORPHA:653Kr.
Autosomal dominant

Multiple endocrine neoplasia type 2A

ORPHA:247698Kl. subt.
Autosomal dominant

Multiple endocrine neoplasia type 2B

ORPHA:247709Kl. subt.
Autosomal dominant

Multiple endocrine neoplasia type 4

ORPHA:276152Kr.
Autosomal dominant, Not applicable

Multiple epiphyseal dysplasia

ORPHA:251Kl. gruppe
Autosomal dominant, Autosomal recessive

Multiple epiphyseal dysplasia due to collagen 9 anomaly

ORPHA:166002Kr.
Autosomal dominant

Multiple epiphyseal dysplasia type 1

ORPHA:93308Kr.
Autosomal dominant

Multiple epiphyseal dysplasia type 4

ORPHA:93307Kr.
Autosomal recessive

Multiple epiphyseal dysplasia type 5

ORPHA:93311Kr.
Autosomal dominant