MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Osteopetrosis and related disorders

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

Osteopetrosis with renal tubular acidosis

ORPHA:2785Заболевание
Autosomal recessive

Osteopetrosis-hypogammaglobulinemia syndrome

ORPHA:178389Заболевание
Autosomal recessive

Osteoporosis-oculocutaneous hypopigmentation syndrome

ORPHA:2786Мальформация
Autosomal recessive

Osteoporosis-pseudoglioma syndrome

ORPHA:2788Заболевание
Autosomal recessive

Osteosarcoma

ORPHA:668Заболевание
Not applicable

Osteosclerosis-developmental delay-craniosynostosis syndrome

ORPHA:178377Мальформация
Autosomal dominant

Osteosclerosis-ichthyosis-premature ovarian failure syndrome

ORPHA:75325Заболевание
Unknown

Osteosclerotic bone dysplasia

ORPHA:1832Мальформация
Autosomal recessive

Osteosclerotic metaphyseal dysplasia

ORPHA:500548Мальформация
Autosomal recessive

Otodental syndrome

ORPHA:2791Мальформация
Autosomal dominant

Otofaciocervical syndrome

ORPHA:2792Мальформация
Autosomal dominant, Autosomal recessive

Otoonychoperoneal syndrome

ORPHA:2793Мальформация
Autosomal recessive

Otopalatodigital syndrome type 1

ORPHA:90650Мальформация
X-linked dominant

Otopalatodigital syndrome type 2

ORPHA:90652Мальформация
X-linked dominant

Ovarian dysgerminoma

ORPHA:99912Заболевание
Unknown

Ovarian fibroma

ORPHA:314473Заболевание
Not applicable

Ovarian fibrothecoma

ORPHA:314478Заболевание
Not applicable

Ovarian hyperstimulation syndrome

ORPHA:64739Заболевание
Not applicable

Ovarioleukodystrophy

ORPHA:99853Клин. подтип
Autosomal recessive

Overgrowth syndrome with 2q37 translocation

ORPHA:498488Мальформация

Overgrowth-macrocephaly-facial dysmorphism syndrome

ORPHA:137634Мальформация
Autosomal dominant

Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome

ORPHA:498485Мальформация

Overhydrated hereditary stomatocytosis

ORPHA:3203Заболевание
Autosomal dominant