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

Luscan-Lumish syndrome

ORPHA:597738Мальформация
Autosomal dominant

Lymphedema-atrial septal defects-facial changes syndrome

ORPHA:86915Мальформация
Autosomal recessive

Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome

ORPHA:86914Мальформация

Lymphedema-distichiasis syndrome

ORPHA:33001Мальформация
Autosomal dominant

Lymphedema-posterior choanal atresia syndrome

ORPHA:99141Мальформация
Autosomal recessive

Léri-Weill dyschondrosteosis

ORPHA:240Мальформация
Autosomal dominant

MEHMO syndrome

ORPHA:85282Мальформация
X-linked recessive

MEND syndrome

ORPHA:401973Мальформация
X-linked recessive

MEPAN syndrome

ORPHA:508093Мальформация
Autosomal recessive

MIR140-related spondyloepiphyseal dysplasia

ORPHA:623695Мальформация

MMEP syndrome

ORPHA:3434Мальформация

MOMO syndrome

ORPHA:2563Мальформация
Autosomal recessive

Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome

ORPHA:662175Мальформация
Autosomal dominant

Macrocephaly-developmental delay syndrome

ORPHA:397612Мальформация
Autosomal recessive

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

ORPHA:466791Мальформация
X-linked recessive

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

ORPHA:457485Мальформация
Autosomal dominant

Macrocephaly-short stature-paraplegia syndrome

ORPHA:2427Мальформация
Unknown

Macrocephaly-spastic paraplegia-dysmorphism syndrome

ORPHA:2429Мальформация
Autosomal recessive

Macrocystic lymphatic malformation

ORPHA:79489Мальформация
Not applicable

Macrosomia-microphthalmia-cleft palate syndrome

ORPHA:2432Мальформация

Macrostomia-preauricular tags-external ophthalmoplegia syndrome

ORPHA:83619Мальформация
Autosomal dominant

Macular coloboma-cleft palate-hallux valgus syndrome

ORPHA:91494Мальформация
Autosomal recessive

Malan overgrowth syndrome

ORPHA:420179Мальформация
Autosomal dominant, Unknown

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

ORPHA:2234Мальформация
Unknown