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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Acromesomelic dysplasia, Hunter-Thompson type

ORPHA:968Порок
Autosomal recessive

Acromesomelic dysplasia, Maroteaux type

ORPHA:40Порок
Autosomal recessive

Acromicric dysplasia

ORPHA:969Порок
Autosomal dominant

Acroosteolysis-keloid-like lesions-premature aging syndrome

ORPHA:363665Заболевание
Autosomal dominant

Acrootoocular syndrome

ORPHA:2980Порок
Autosomal recessive

Acropectoral syndrome

ORPHA:85203Порок
Autosomal dominant

Acropectorovertebral dysplasia

ORPHA:957Порок
Autosomal dominant

Acrorenal syndrome

ORPHA:971Порок
Autosomal recessive

Actinic lichen planus

ORPHA:254395Заболевание

Actinic prurigo

ORPHA:330061Заболевание
Multigenic/multifactorial, Not applicable

Actinomycosis

ORPHA:457095Заболевание
Not applicable

Actinomyopathy-associated syndromic thrombocytopenia

ORPHA:674653Заболевание
Autosomal dominant

Action myoclonus-renal failure syndrome

ORPHA:163696Заболевание
Autosomal recessive

Activated PI3K-delta syndrome

ORPHA:397596Клин. гр.
Autosomal dominant

Activated PI3K-delta syndrome 1

ORPHA:693661Заболевание
Autosomal dominant

Activated PI3K-delta syndrome 2

ORPHA:693681Заболевание
Autosomal dominant

Acute ackee fruit intoxication

ORPHA:73423Заболевание
Not applicable

Acute adrenal insufficiency

ORPHA:95409Clinical syndrome
Autosomal recessive, Not applicable, X-linked dominant

Acute annular outer retinopathy

ORPHA:284460Заболевание
Not applicable

Acute basophilic leukemia

ORPHA:86849Заболевание

Acute bilirubin encephalopathy

ORPHA:529799Clinical syndrome

Acute disseminated encephalomyelitis

ORPHA:83597Заболевание
Not applicable

Acute encephalopathy with biphasic seizures and late reduced diffusion

ORPHA:363549Заболевание

Acute encephalopathy with inflammation-mediated status epilepticus

ORPHA:363567Клин. гр.