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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

Orofaciodigital syndrome type 8

ORPHA:2755Порок
X-linked recessive

Orofaciodigital syndrome type 9

ORPHA:141007Порок
Autosomal recessive

Osteocraniostenosis

ORPHA:2763Порок
Autosomal dominant

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

ORPHA:2773Порок
Unknown

Osteoglosphonic dysplasia

ORPHA:2645Порок
Autosomal dominant

Osteomesopyknosis

ORPHA:2777Порок
Autosomal dominant

Osteopathia striata-cranial sclerosis syndrome

ORPHA:2780Порок
X-linked dominant

Osteopathia striata-pigmentary dermopathy-white forelock syndrome

ORPHA:2779Порок
Autosomal dominant, X-linked dominant

Osteopenia-intellectual disability-sparse hair syndrome

ORPHA:2324Порок
Autosomal recessive

Osteoporosis-oculocutaneous hypopigmentation syndrome

ORPHA:2786Порок
Autosomal recessive

Osteosclerosis-developmental delay-craniosynostosis syndrome

ORPHA:178377Порок
Autosomal dominant

Osteosclerotic bone dysplasia

ORPHA:1832Порок
Autosomal recessive

Osteosclerotic metaphyseal dysplasia

ORPHA:500548Порок
Autosomal recessive

Otodental syndrome

ORPHA:2791Порок
Autosomal dominant

Otofaciocervical syndrome

ORPHA:2792Порок
Autosomal dominant, Autosomal recessive

Otoonychoperoneal syndrome

ORPHA:2793Порок
Autosomal recessive

Otopalatodigital syndrome type 1

ORPHA:90650Порок
X-linked dominant

Otopalatodigital syndrome type 2

ORPHA:90652Порок
X-linked dominant

Overgrowth syndrome with 2q37 translocation

ORPHA:498488Порок

Overgrowth-macrocephaly-facial dysmorphism syndrome

ORPHA:137634Порок
Autosomal dominant

Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome

ORPHA:498485Порок

PAGOD syndrome

ORPHA:991Порок
Not applicable

PAICS deficiency

ORPHA:633099Порок

PARC syndrome

ORPHA:2825Порок
Autosomal dominant