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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Carney complex-trismus-pseudocamptodactyly syndrome

ORPHA:319340Заболевание
Not applicable

Carney triad

ORPHA:139411Заболевание

Carney-Stratakis syndrome

ORPHA:97286Заболевание
Autosomal dominant

Carnitine palmitoyl transferase 1A deficiency

ORPHA:156Заболевание
Autosomal recessive

Carnitine palmitoyl transferase II deficiency, myopathic form

ORPHA:228302Клин. подт.
Autosomal recessive

Carnitine palmitoyl transferase II deficiency, neonatal form

ORPHA:228308Клин. подт.
Autosomal recessive

Carnitine palmitoyl transferase II deficiency, severe infantile form

ORPHA:228305Клин. подт.
Autosomal recessive

Carnitine palmitoyltransferase II deficiency

ORPHA:157Заболевание
Autosomal recessive

Carnitine-acylcarnitine translocase deficiency

ORPHA:159Заболевание
Autosomal recessive

Carnosinase deficiency

ORPHA:1361Биоаном.
Autosomal recessive

Caroli disease

ORPHA:53035Порок
Autosomal recessive, Not applicable

Caroli syndrome

ORPHA:480520Порок
Autosomal recessive

Carotid web

ORPHA:698260Заболевание
Not applicable

Carpenter syndrome

ORPHA:65759Порок
Autosomal recessive

Carpotarsal osteochondromatosis

ORPHA:2767Порок
Autosomal dominant

Cartilage-hair hypoplasia

ORPHA:175Заболевание
Autosomal recessive

Carvajal syndrome

ORPHA:65282Заболевание
Autosomal dominant, Autosomal recessive

Castleman disease

ORPHA:160Заболевание
Not applicable

Cat-eye syndrome

ORPHA:195Порок
Not applicable

Cat-scratch disease

ORPHA:50839Заболевание
Not applicable

Cataract-aberrant oral frenula-growth delay syndrome

ORPHA:1373Порок

Cataract-ataxia-deafness syndrome

ORPHA:1368Заболевание
Autosomal recessive

Cataract-congenital heart disease-neural tube defect syndrome

ORPHA:314993Порок

Cataract-deafness-hypogonadism syndrome

ORPHA:1383Порок
Autosomal recessive