MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Orofaciodigital syndrome type 8

ORPHA:2755Malf.
X-linked recessive

Orofaciodigital syndrome type 9

ORPHA:141007Malf.
Autosomal recessive

Osteocraniostenosis

ORPHA:2763Malf.
Autosomal dominant

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

ORPHA:2773Malf.
Unknown

Osteoglosphonic dysplasia

ORPHA:2645Malf.
Autosomal dominant

Osteomesopyknosis

ORPHA:2777Malf.
Autosomal dominant

Osteopathia striata-cranial sclerosis syndrome

ORPHA:2780Malf.
X-linked dominant

Osteopathia striata-pigmentary dermopathy-white forelock syndrome

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

Osteopenia-intellectual disability-sparse hair syndrome

ORPHA:2324Malf.
Autosomal recessive

Osteoporosis-oculocutaneous hypopigmentation syndrome

ORPHA:2786Malf.
Autosomal recessive

Osteosclerosis-developmental delay-craniosynostosis syndrome

ORPHA:178377Malf.
Autosomal dominant

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

Overgrowth syndrome with 2q37 translocation

ORPHA:498488Malf.

Overgrowth-macrocephaly-facial dysmorphism syndrome

ORPHA:137634Malf.
Autosomal dominant

Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome

ORPHA:498485Malf.

PAGOD syndrome

ORPHA:991Malf.
Not applicable

PAICS deficiency

ORPHA:633099Malf.

PARC syndrome

ORPHA:2825Malf.
Autosomal dominant