MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Osteopetrosis and related disorders

ORPHA:2781Clin. grp.
Autosomal dominant, Autosomal recessive, X-linked recessive

Osteopetrosis with renal tubular acidosis

ORPHA:2785Disease
Autosomal recessive

Osteopetrosis-hypogammaglobulinemia syndrome

ORPHA:178389Disease
Autosomal recessive

Osteoporosis-oculocutaneous hypopigmentation syndrome

ORPHA:2786Malform.
Autosomal recessive

Osteoporosis-pseudoglioma syndrome

ORPHA:2788Disease
Autosomal recessive

Osteosarcoma

ORPHA:668Disease
Not applicable

Osteosclerosis-developmental delay-craniosynostosis syndrome

ORPHA:178377Malform.
Autosomal dominant

Osteosclerosis-ichthyosis-premature ovarian failure syndrome

ORPHA:75325Disease
Unknown

Osteosclerotic bone dysplasia

ORPHA:1832Malform.
Autosomal recessive

Osteosclerotic metaphyseal dysplasia

ORPHA:500548Malform.
Autosomal recessive

Otodental syndrome

ORPHA:2791Malform.
Autosomal dominant

Otofaciocervical syndrome

ORPHA:2792Malform.
Autosomal dominant, Autosomal recessive

Otoonychoperoneal syndrome

ORPHA:2793Malform.
Autosomal recessive

Otopalatodigital syndrome type 1

ORPHA:90650Malform.
X-linked dominant

Otopalatodigital syndrome type 2

ORPHA:90652Malform.
X-linked dominant

Ovarian dysgerminoma

ORPHA:99912Disease
Unknown

Ovarian fibroma

ORPHA:314473Disease
Not applicable

Ovarian fibrothecoma

ORPHA:314478Disease
Not applicable

Ovarian hyperstimulation syndrome

ORPHA:64739Disease
Not applicable

Ovarioleukodystrophy

ORPHA:99853Clin. sub.
Autosomal recessive

Overgrowth syndrome with 2q37 translocation

ORPHA:498488Malform.

Overgrowth-macrocephaly-facial dysmorphism syndrome

ORPHA:137634Malform.
Autosomal dominant

Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome

ORPHA:498485Malform.

Overhydrated hereditary stomatocytosis

ORPHA:3203Disease
Autosomal dominant