MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Metabolic myopathy due to lactate transporter defect

ORPHA:171690Kr.
Autosomal dominant

Metachondromatosis

ORPHA:2499Malf.
Autosomal dominant

Metachromatic leukodystrophy

ORPHA:512Kr.
Autosomal recessive

Metachromatic leukodystrophy, adult form

ORPHA:309271Kl. subt.
Autosomal recessive

Metachromatic leukodystrophy, juvenile form

ORPHA:309263Kl. subt.
Autosomal recessive

Metachromatic leukodystrophy, late infantile form

ORPHA:309256Kl. subt.
Autosomal recessive

Metaphyseal anadysplasia

ORPHA:1040Kr.
Autosomal dominant, Autosomal recessive

Metaphyseal chondrodysplasia, Jansen type

ORPHA:33067Kr.
Autosomal dominant

Metaphyseal chondrodysplasia, Kaitila type

ORPHA:166038Kr.

Metaphyseal chondrodysplasia, Rosenberg type

ORPHA:1837Kr.

Metaphyseal chondrodysplasia, Schmid type

ORPHA:174Kr.
Autosomal dominant

Metaphyseal chondrodysplasia, Spahr type

ORPHA:2501Kr.
Autosomal recessive

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

ORPHA:99646Kr.
Not applicable

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

ORPHA:2502Malf.
Autosomal recessive

Metaphyseal dysplasia, Braun-Tinschert type

ORPHA:85188Malf.

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

ORPHA:2504Malf.
Autosomal dominant

Metaplastic carcinoma of the breast

ORPHA:213531Kr.

Metatropic dysplasia

ORPHA:2635Kr.
Autosomal dominant, Not applicable

Methanol poisoning

ORPHA:31825Kr.
Not applicable

Methimazole embryofetopathy

ORPHA:1923Malf.
Not applicable

Methionine adenosyltransferase I/III deficiency

ORPHA:168598Kr.
Autosomal recessive

Methotrexate toxicity

ORPHA:565782Kr.
Not applicable

Methylcobalamin deficiency type cblDv1

ORPHA:308380Kl. subt.
Autosomal recessive

Methylcobalamin deficiency type cblE

ORPHA:2169Kl. subt.
Autosomal recessive