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7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Luscan-Lumish syndrome

ORPHA:597738Мальф.
Autosomal dominant

Lymphedema-atrial septal defects-facial changes syndrome

ORPHA:86915Мальф.
Autosomal recessive

Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome

ORPHA:86914Мальф.

Lymphedema-distichiasis syndrome

ORPHA:33001Мальф.
Autosomal dominant

Lymphedema-posterior choanal atresia syndrome

ORPHA:99141Мальф.
Autosomal recessive

Léri-Weill dyschondrosteosis

ORPHA:240Мальф.
Autosomal dominant

MEHMO syndrome

ORPHA:85282Мальф.
X-linked recessive

MEND syndrome

ORPHA:401973Мальф.
X-linked recessive

MEPAN syndrome

ORPHA:508093Мальф.
Autosomal recessive

MIR140-related spondyloepiphyseal dysplasia

ORPHA:623695Мальф.

MMEP syndrome

ORPHA:3434Мальф.

MOMO syndrome

ORPHA:2563Мальф.
Autosomal recessive

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

ORPHA:662175Мальф.
Autosomal dominant

Macrocephaly-developmental delay syndrome

ORPHA:397612Мальф.
Autosomal recessive

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

ORPHA:466791Мальф.
X-linked recessive

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

ORPHA:457485Мальф.
Autosomal dominant

Macrocephaly-short stature-paraplegia syndrome

ORPHA:2427Мальф.
Unknown

Macrocephaly-spastic paraplegia-dysmorphism syndrome

ORPHA:2429Мальф.
Autosomal recessive

Macrocystic lymphatic malformation

ORPHA:79489Мальф.
Not applicable

Macrosomia-microphthalmia-cleft palate syndrome

ORPHA:2432Мальф.

Macrostomia-preauricular tags-external ophthalmoplegia syndrome

ORPHA:83619Мальф.
Autosomal dominant

Macular coloboma-cleft palate-hallux valgus syndrome

ORPHA:91494Мальф.
Autosomal recessive

Malan overgrowth syndrome

ORPHA:420179Мальф.
Autosomal dominant, Unknown

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

ORPHA:2234Мальф.
Unknown