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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

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

Orofaciodigital syndrome type 8

ORPHA:2755Мальф.
X-linked recessive

Orofaciodigital syndrome type 9

ORPHA:141007Мальф.
Autosomal recessive

Osteocraniostenosis

ORPHA:2763Мальф.
Autosomal dominant

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

ORPHA:2773Мальф.
Unknown

Osteoglosphonic dysplasia

ORPHA:2645Мальф.
Autosomal dominant

Osteomesopyknosis

ORPHA:2777Мальф.
Autosomal dominant

Osteopathia striata-cranial sclerosis syndrome

ORPHA:2780Мальф.
X-linked dominant

Osteopathia striata-pigmentary dermopathy-white forelock syndrome

ORPHA:2779Мальф.
Autosomal dominant, X-linked dominant

Osteopenia-intellectual disability-sparse hair syndrome

ORPHA:2324Мальф.
Autosomal recessive

Osteoporosis-oculocutaneous hypopigmentation syndrome

ORPHA:2786Мальф.
Autosomal recessive

Osteosclerosis-developmental delay-craniosynostosis syndrome

ORPHA:178377Мальф.
Autosomal dominant

Osteosclerotic bone dysplasia

ORPHA:1832Мальф.
Autosomal recessive

Osteosclerotic metaphyseal dysplasia

ORPHA:500548Мальф.
Autosomal recessive

Otodental syndrome

ORPHA:2791Мальф.
Autosomal dominant

Otofaciocervical syndrome

ORPHA:2792Мальф.
Autosomal dominant, Autosomal recessive

Otoonychoperoneal syndrome

ORPHA:2793Мальф.
Autosomal recessive

Otopalatodigital syndrome type 1

ORPHA:90650Мальф.
X-linked dominant

Otopalatodigital syndrome type 2

ORPHA:90652Мальф.
X-linked dominant

Overgrowth syndrome with 2q37 translocation

ORPHA:498488Мальф.

Overgrowth-macrocephaly-facial dysmorphism syndrome

ORPHA:137634Мальф.
Autosomal dominant

Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome

ORPHA:498485Мальф.

PAGOD syndrome

ORPHA:991Мальф.
Not applicable

PAICS deficiency

ORPHA:633099Мальф.

PARC syndrome

ORPHA:2825Мальф.
Autosomal dominant