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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Osteopetrosis and related disorders

ORPHA:2781Клин. топ
Autosomal dominant, Autosomal recessive, X-linked recessive

Osteopetrosis with renal tubular acidosis

ORPHA:2785Ауру
Autosomal recessive

Osteopetrosis-hypogammaglobulinemia syndrome

ORPHA:178389Ауру
Autosomal recessive

Osteoporosis-oculocutaneous hypopigmentation syndrome

ORPHA:2786Мальф.
Autosomal recessive

Osteoporosis-pseudoglioma syndrome

ORPHA:2788Ауру
Autosomal recessive

Osteosarcoma

ORPHA:668Ауру
Not applicable

Osteosclerosis-developmental delay-craniosynostosis syndrome

ORPHA:178377Мальф.
Autosomal dominant

Osteosclerosis-ichthyosis-premature ovarian failure syndrome

ORPHA:75325Ауру
Unknown

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

Ovarian dysgerminoma

ORPHA:99912Ауру
Unknown

Ovarian fibroma

ORPHA:314473Ауру
Not applicable

Ovarian fibrothecoma

ORPHA:314478Ауру
Not applicable

Ovarian hyperstimulation syndrome

ORPHA:64739Ауру
Not applicable

Ovarioleukodystrophy

ORPHA:99853Клин. под.
Autosomal recessive

Overgrowth syndrome with 2q37 translocation

ORPHA:498488Мальф.

Overgrowth-macrocephaly-facial dysmorphism syndrome

ORPHA:137634Мальф.
Autosomal dominant

Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome

ORPHA:498485Мальф.

Overhydrated hereditary stomatocytosis

ORPHA:3203Ауру
Autosomal dominant