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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Microlissencephaly-micromelia syndrome

ORPHA:50810Порок
Autosomal recessive

Microphthalmia with brain and digit anomalies

ORPHA:139471Порок
Autosomal dominant

Microphthalmia with limb anomalies

ORPHA:1106Порок
Autosomal recessive

Microphthalmia with linear skin defects syndrome

ORPHA:2556Порок
X-linked dominant

Microphthalmia, Lenz type

ORPHA:568Порок
X-linked recessive

Microphthalmia-ankyloblepharon-intellectual disability syndrome

ORPHA:85275Порок
X-linked recessive

Microphthalmia-brain atrophy syndrome

ORPHA:77299Порок
Autosomal recessive

Microphthalmia-microtia-fetal akinesia syndrome

ORPHA:2547Порок

Microspherophakia-metaphyseal dysplasia syndrome

ORPHA:2551Порок
Autosomal dominant

Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

ORPHA:139450Порок
Autosomal dominant

Microtriplication 11q24.1 syndrome

ORPHA:289522Порок

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

ORPHA:688581Порок
X-linked recessive

Mietens syndrome

ORPHA:2557Порок
Autosomal recessive

Mikati-Najjar-Sahli syndrome

ORPHA:2558Порок
Autosomal recessive

Miller-Dieker syndrome

ORPHA:531Порок
Autosomal dominant

Mirror polydactyly-vertebral segmentation-limbs defects syndrome

ORPHA:3004Порок

Mitochondrial DNA-related cardiomyopathy and hearing loss

ORPHA:1349Порок
Mitochondrial inheritance

Mixed cystic lymphatic malformation

ORPHA:458792Порок
Not applicable

Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

ORPHA:2560Порок
Not applicable

Mononen-Karnes-Senac syndrome

ORPHA:2565Порок
X-linked dominant

Monosomy 13q14 syndrome

ORPHA:1587Порок
Not applicable

Monosomy 13q34 syndrome

ORPHA:96168Порок
Not applicable

Monosomy 18q syndrome

ORPHA:1600Порок
Autosomal dominant

Monosomy 22 syndrome

ORPHA:96123Порок