MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Orofaciodigital syndrome type 8

ORPHA:2755Malform.
X-linked recessive

Orofaciodigital syndrome type 9

ORPHA:141007Malform.
Autosomal recessive

Osteocraniostenosis

ORPHA:2763Malform.
Autosomal dominant

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

ORPHA:2773Malform.
Unknown

Osteoglosphonic dysplasia

ORPHA:2645Malform.
Autosomal dominant

Osteomesopyknosis

ORPHA:2777Malform.
Autosomal dominant

Osteopathia striata-cranial sclerosis syndrome

ORPHA:2780Malform.
X-linked dominant

Osteopathia striata-pigmentary dermopathy-white forelock syndrome

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

Osteopenia-intellectual disability-sparse hair syndrome

ORPHA:2324Malform.
Autosomal recessive

Osteoporosis-oculocutaneous hypopigmentation syndrome

ORPHA:2786Malform.
Autosomal recessive

Osteosclerosis-developmental delay-craniosynostosis syndrome

ORPHA:178377Malform.
Autosomal dominant

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

Overgrowth syndrome with 2q37 translocation

ORPHA:498488Malform.

Overgrowth-macrocephaly-facial dysmorphism syndrome

ORPHA:137634Malform.
Autosomal dominant

Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome

ORPHA:498485Malform.

PAGOD syndrome

ORPHA:991Malform.
Not applicable

PAICS deficiency

ORPHA:633099Malform.

PARC syndrome

ORPHA:2825Malform.
Autosomal dominant