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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

Keipert syndrome

ORPHA:2662Порок
X-linked recessive

Kenny-Caffey syndrome

ORPHA:2333Порок
Autosomal dominant, Autosomal recessive

Keppen-Lubinsky syndrome

ORPHA:435628Порок
Autosomal dominant, Not applicable

Keratosis follicularis-dwarfism-cerebral atrophy syndrome

ORPHA:2339Порок
X-linked recessive

Keutel syndrome

ORPHA:85202Порок
Autosomal recessive

King-Denborough syndrome

ORPHA:99741Порок
Autosomal dominant

Kleefstra syndrome

ORPHA:261494Порок
Autosomal dominant

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

ORPHA:447974Порок
Autosomal recessive

Knobloch syndrome

ORPHA:1571Порок
Autosomal recessive

Koolen-De Vries syndrome

ORPHA:96169Порок
Autosomal dominant

Kosaki overgrowth syndrome

ORPHA:477831Порок
No data available

Kousseff syndrome

ORPHA:2351Порок

Kuskokwim syndrome

ORPHA:1149Порок
Autosomal recessive

Kyphomelic dysplasia

ORPHA:1801Порок

L1 syndrome

ORPHA:275543Порок
X-linked recessive

LRP5-related primary osteoporosis

ORPHA:498481Порок
Autosomal dominant

LUMBAR syndrome

ORPHA:83628Порок
Unknown

Lacrimoauriculodentodigital syndrome

ORPHA:2363Порок
Autosomal dominant

Lambert syndrome

ORPHA:1296Порок
Unknown

Laminin subunit alpha 2-related congenital muscular dystrophy

ORPHA:258Порок
Autosomal recessive

Langer mesomelic dysplasia

ORPHA:2632Порок
Autosomal recessive

Larsen syndrome

ORPHA:503Порок
Autosomal dominant

Larsen-like osseous dysplasia-short stature syndrome

ORPHA:2370Порок

Larsen-like syndrome, B3GAT3 type

ORPHA:284139Порок
Autosomal recessive