MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Marginal papular palmoplantar keratoderma

ORPHA:307995Kl. gruppe
Autosomal dominant

Marginal zone lymphoma

ORPHA:300912Kl. gruppe

Marie Unna hereditary hypotrichosis

ORPHA:444Kr.
Autosomal dominant

Marinesco-Sjögren syndrome

ORPHA:559Kr.
Autosomal recessive

Marshall syndrome

ORPHA:560Malf.
Autosomal dominant, Autosomal recessive

Marshall-Smith syndrome

ORPHA:561Malf.
Autosomal dominant

Martinique crinkled retinal pigment epitheliopathy

ORPHA:466718Kr.
Autosomal dominant

Mast cell leukemia

ORPHA:98851Kr.
Not applicable

Mast cell sarcoma

ORPHA:66661Kr.

Mastocytosis

ORPHA:98292Kat.

Maternal hyperthermia-induced birth defects

ORPHA:2216Malf.

Maternal phenylketonuria syndrome

ORPHA:2209Malf.
Autosomal recessive

Maternal riboflavin deficiency

ORPHA:411712Kr.
Autosomal dominant

Maternal uniparental disomy of chromosome 1 syndrome

ORPHA:251009Malf.
Not applicable, Unknown

Maternal uniparental disomy of chromosome 13 syndrome

ORPHA:97678Malf.

Maternal uniparental disomy of chromosome 16 syndrome

ORPHA:96185Malf.

Maternal uniparental disomy of chromosome 2 syndrome

ORPHA:96179Malf.

Maternal uniparental disomy of chromosome 20 syndrome

ORPHA:96186Malf.

Maternal uniparental disomy of chromosome 21 syndrome

ORPHA:96187Malf.

Maternal uniparental disomy of chromosome 22 syndrome

ORPHA:96188Malf.

Maternal uniparental disomy of chromosome 4 syndrome

ORPHA:96180Malf.

Maternal uniparental disomy of chromosome 6 syndrome

ORPHA:96181Malf.

Maternal uniparental disomy of chromosome 9 syndrome

ORPHA:96183Malf.

Maternal uniparental disomy of chromosome X syndrome

ORPHA:261519Malf.