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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Luscan-Lumish syndrome

ORPHA:597738Malform.
Autosomal dominant

Lymphedema-atrial septal defects-facial changes syndrome

ORPHA:86915Malform.
Autosomal recessive

Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome

ORPHA:86914Malform.

Lymphedema-distichiasis syndrome

ORPHA:33001Malform.
Autosomal dominant

Lymphedema-posterior choanal atresia syndrome

ORPHA:99141Malform.
Autosomal recessive

Léri-Weill dyschondrosteosis

ORPHA:240Malform.
Autosomal dominant

MEHMO syndrome

ORPHA:85282Malform.
X-linked recessive

MEND syndrome

ORPHA:401973Malform.
X-linked recessive

MEPAN syndrome

ORPHA:508093Malform.
Autosomal recessive

MIR140-related spondyloepiphyseal dysplasia

ORPHA:623695Malform.

MMEP syndrome

ORPHA:3434Malform.

MOMO syndrome

ORPHA:2563Malform.
Autosomal recessive

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

ORPHA:662175Malform.
Autosomal dominant

Macrocephaly-developmental delay syndrome

ORPHA:397612Malform.
Autosomal recessive

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

ORPHA:466791Malform.
X-linked recessive

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

ORPHA:457485Malform.
Autosomal dominant

Macrocephaly-short stature-paraplegia syndrome

ORPHA:2427Malform.
Unknown

Macrocephaly-spastic paraplegia-dysmorphism syndrome

ORPHA:2429Malform.
Autosomal recessive

Macrocystic lymphatic malformation

ORPHA:79489Malform.
Not applicable

Macrosomia-microphthalmia-cleft palate syndrome

ORPHA:2432Malform.

Macrostomia-preauricular tags-external ophthalmoplegia syndrome

ORPHA:83619Malform.
Autosomal dominant

Macular coloboma-cleft palate-hallux valgus syndrome

ORPHA:91494Malform.
Autosomal recessive

Malan overgrowth syndrome

ORPHA:420179Malform.
Autosomal dominant, Unknown

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

ORPHA:2234Malform.
Unknown