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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Marginal papular palmoplantar keratoderma

ORPHA:307995Clin. grp.
Autosomal dominant

Marginal zone lymphoma

ORPHA:300912Clin. grp.

Marie Unna hereditary hypotrichosis

ORPHA:444Disease
Autosomal dominant

Marinesco-Sjögren syndrome

ORPHA:559Disease
Autosomal recessive

Marshall syndrome

ORPHA:560Malform.
Autosomal dominant, Autosomal recessive

Marshall-Smith syndrome

ORPHA:561Malform.
Autosomal dominant

Martinique crinkled retinal pigment epitheliopathy

ORPHA:466718Disease
Autosomal dominant

Mast cell leukemia

ORPHA:98851Disease
Not applicable

Mast cell sarcoma

ORPHA:66661Disease

Mastocytosis

ORPHA:98292Cat.

Maternal hyperthermia-induced birth defects

ORPHA:2216Malform.

Maternal phenylketonuria syndrome

ORPHA:2209Malform.
Autosomal recessive

Maternal riboflavin deficiency

ORPHA:411712Disease
Autosomal dominant

Maternal uniparental disomy of chromosome 1 syndrome

ORPHA:251009Malform.
Not applicable, Unknown

Maternal uniparental disomy of chromosome 13 syndrome

ORPHA:97678Malform.

Maternal uniparental disomy of chromosome 16 syndrome

ORPHA:96185Malform.

Maternal uniparental disomy of chromosome 2 syndrome

ORPHA:96179Malform.

Maternal uniparental disomy of chromosome 20 syndrome

ORPHA:96186Malform.

Maternal uniparental disomy of chromosome 21 syndrome

ORPHA:96187Malform.

Maternal uniparental disomy of chromosome 22 syndrome

ORPHA:96188Malform.

Maternal uniparental disomy of chromosome 4 syndrome

ORPHA:96180Malform.

Maternal uniparental disomy of chromosome 6 syndrome

ORPHA:96181Malform.

Maternal uniparental disomy of chromosome 9 syndrome

ORPHA:96183Malform.

Maternal uniparental disomy of chromosome X syndrome

ORPHA:261519Malform.