MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Osteopetrosis and related disorders

ORPHA:2781Kl. gruppe
Autosomal dominant, Autosomal recessive, X-linked recessive

Osteopetrosis with renal tubular acidosis

ORPHA:2785Kr.
Autosomal recessive

Osteopetrosis-hypogammaglobulinemia syndrome

ORPHA:178389Kr.
Autosomal recessive

Osteoporosis-oculocutaneous hypopigmentation syndrome

ORPHA:2786Malf.
Autosomal recessive

Osteoporosis-pseudoglioma syndrome

ORPHA:2788Kr.
Autosomal recessive

Osteosarcoma

ORPHA:668Kr.
Not applicable

Osteosclerosis-developmental delay-craniosynostosis syndrome

ORPHA:178377Malf.
Autosomal dominant

Osteosclerosis-ichthyosis-premature ovarian failure syndrome

ORPHA:75325Kr.
Unknown

Osteosclerotic bone dysplasia

ORPHA:1832Malf.
Autosomal recessive

Osteosclerotic metaphyseal dysplasia

ORPHA:500548Malf.
Autosomal recessive

Otodental syndrome

ORPHA:2791Malf.
Autosomal dominant

Otofaciocervical syndrome

ORPHA:2792Malf.
Autosomal dominant, Autosomal recessive

Otoonychoperoneal syndrome

ORPHA:2793Malf.
Autosomal recessive

Otopalatodigital syndrome type 1

ORPHA:90650Malf.
X-linked dominant

Otopalatodigital syndrome type 2

ORPHA:90652Malf.
X-linked dominant

Ovarian dysgerminoma

ORPHA:99912Kr.
Unknown

Ovarian fibroma

ORPHA:314473Kr.
Not applicable

Ovarian fibrothecoma

ORPHA:314478Kr.
Not applicable

Ovarian hyperstimulation syndrome

ORPHA:64739Kr.
Not applicable

Ovarioleukodystrophy

ORPHA:99853Kl. subt.
Autosomal recessive

Overgrowth syndrome with 2q37 translocation

ORPHA:498488Malf.

Overgrowth-macrocephaly-facial dysmorphism syndrome

ORPHA:137634Malf.
Autosomal dominant

Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome

ORPHA:498485Malf.

Overhydrated hereditary stomatocytosis

ORPHA:3203Kr.
Autosomal dominant