MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

Microlissencephaly-micromelia syndrome

ORPHA:50810Мальформация
Autosomal recessive

Microphthalmia with brain and digit anomalies

ORPHA:139471Мальформация
Autosomal dominant

Microphthalmia with limb anomalies

ORPHA:1106Мальформация
Autosomal recessive

Microphthalmia with linear skin defects syndrome

ORPHA:2556Мальформация
X-linked dominant

Microphthalmia, Lenz type

ORPHA:568Мальформация
X-linked recessive

Microphthalmia-ankyloblepharon-intellectual disability syndrome

ORPHA:85275Мальформация
X-linked recessive

Microphthalmia-brain atrophy syndrome

ORPHA:77299Мальформация
Autosomal recessive

Microphthalmia-microtia-fetal akinesia syndrome

ORPHA:2547Мальформация

Microspherophakia-metaphyseal dysplasia syndrome

ORPHA:2551Мальформация
Autosomal dominant

Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

ORPHA:139450Мальформация
Autosomal dominant

Microtriplication 11q24.1 syndrome

ORPHA:289522Мальформация

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

ORPHA:688581Мальформация
X-linked recessive

Mietens syndrome

ORPHA:2557Мальформация
Autosomal recessive

Mikati-Najjar-Sahli syndrome

ORPHA:2558Мальформация
Autosomal recessive

Miller-Dieker syndrome

ORPHA:531Мальформация
Autosomal dominant

Mirror polydactyly-vertebral segmentation-limbs defects syndrome

ORPHA:3004Мальформация

Mitochondrial DNA-related cardiomyopathy and hearing loss

ORPHA:1349Мальформация
Mitochondrial inheritance

Mixed cystic lymphatic malformation

ORPHA:458792Мальформация
Not applicable

Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

ORPHA:2560Мальформация
Not applicable

Mononen-Karnes-Senac syndrome

ORPHA:2565Мальформация
X-linked dominant

Monosomy 13q14 syndrome

ORPHA:1587Мальформация
Not applicable

Monosomy 13q34 syndrome

ORPHA:96168Мальформация
Not applicable

Monosomy 18q syndrome

ORPHA:1600Мальформация
Autosomal dominant

Monosomy 22 syndrome

ORPHA:96123Мальформация