MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

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

Keipert syndrome

ORPHA:2662Мальф.
X-linked recessive

Kenny-Caffey syndrome

ORPHA:2333Мальф.
Autosomal dominant, Autosomal recessive

Keppen-Lubinsky syndrome

ORPHA:435628Мальф.
Autosomal dominant, Not applicable

Keratosis follicularis-dwarfism-cerebral atrophy syndrome

ORPHA:2339Мальф.
X-linked recessive

Keutel syndrome

ORPHA:85202Мальф.
Autosomal recessive

King-Denborough syndrome

ORPHA:99741Мальф.
Autosomal dominant

Kleefstra syndrome

ORPHA:261494Мальф.
Autosomal dominant

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

ORPHA:447974Мальф.
Autosomal recessive

Knobloch syndrome

ORPHA:1571Мальф.
Autosomal recessive

Koolen-De Vries syndrome

ORPHA:96169Мальф.
Autosomal dominant

Kosaki overgrowth syndrome

ORPHA:477831Мальф.
No data available

Kousseff syndrome

ORPHA:2351Мальф.

Kuskokwim syndrome

ORPHA:1149Мальф.
Autosomal recessive

Kyphomelic dysplasia

ORPHA:1801Мальф.

L1 syndrome

ORPHA:275543Мальф.
X-linked recessive

LRP5-related primary osteoporosis

ORPHA:498481Мальф.
Autosomal dominant

LUMBAR syndrome

ORPHA:83628Мальф.
Unknown

Lacrimoauriculodentodigital syndrome

ORPHA:2363Мальф.
Autosomal dominant

Lambert syndrome

ORPHA:1296Мальф.
Unknown

Laminin subunit alpha 2-related congenital muscular dystrophy

ORPHA:258Мальф.
Autosomal recessive

Langer mesomelic dysplasia

ORPHA:2632Мальф.
Autosomal recessive

Larsen syndrome

ORPHA:503Мальф.
Autosomal dominant

Larsen-like osseous dysplasia-short stature syndrome

ORPHA:2370Мальф.

Larsen-like syndrome, B3GAT3 type

ORPHA:284139Мальф.
Autosomal recessive