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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Luscan-Lumish syndrome

ORPHA:597738Порок
Autosomal dominant

Lymphedema-atrial septal defects-facial changes syndrome

ORPHA:86915Порок
Autosomal recessive

Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome

ORPHA:86914Порок

Lymphedema-distichiasis syndrome

ORPHA:33001Порок
Autosomal dominant

Lymphedema-posterior choanal atresia syndrome

ORPHA:99141Порок
Autosomal recessive

Léri-Weill dyschondrosteosis

ORPHA:240Порок
Autosomal dominant

MEHMO syndrome

ORPHA:85282Порок
X-linked recessive

MEND syndrome

ORPHA:401973Порок
X-linked recessive

MEPAN syndrome

ORPHA:508093Порок
Autosomal recessive

MIR140-related spondyloepiphyseal dysplasia

ORPHA:623695Порок

MMEP syndrome

ORPHA:3434Порок

MOMO syndrome

ORPHA:2563Порок
Autosomal recessive

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

ORPHA:662175Порок
Autosomal dominant

Macrocephaly-developmental delay syndrome

ORPHA:397612Порок
Autosomal recessive

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

ORPHA:466791Порок
X-linked recessive

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

ORPHA:457485Порок
Autosomal dominant

Macrocephaly-short stature-paraplegia syndrome

ORPHA:2427Порок
Unknown

Macrocephaly-spastic paraplegia-dysmorphism syndrome

ORPHA:2429Порок
Autosomal recessive

Macrocystic lymphatic malformation

ORPHA:79489Порок
Not applicable

Macrosomia-microphthalmia-cleft palate syndrome

ORPHA:2432Порок

Macrostomia-preauricular tags-external ophthalmoplegia syndrome

ORPHA:83619Порок
Autosomal dominant

Macular coloboma-cleft palate-hallux valgus syndrome

ORPHA:91494Порок
Autosomal recessive

Malan overgrowth syndrome

ORPHA:420179Порок
Autosomal dominant, Unknown

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

ORPHA:2234Порок
Unknown