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

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

ORPHA:684240Malform.
Autosomal recessive

Neuroectodermal melanolysosomal disease

ORPHA:33445Malform.
Autosomal recessive

Neurofaciodigitorenal syndrome

ORPHA:2673Malform.

Neurofibromatosis-Noonan syndrome

ORPHA:638Malform.
Autosomal dominant

Nicolaides-Baraitser syndrome

ORPHA:3051Malform.
Autosomal dominant

Night blindness-skeletal anomalies-dysmorphism syndrome

ORPHA:1390Malform.

Nijmegen breakage syndrome

ORPHA:647Malform.
Autosomal recessive

Nijmegen breakage syndrome-like disorder

ORPHA:240760Malform.
Autosomal recessive

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome

ORPHA:231720Malform.
Autosomal recessive

Non-distal deletion 10q syndrome

ORPHA:1581Malform.

Non-distal deletion 12q syndrome

ORPHA:96160Malform.

Non-distal duplication 10q syndrome

ORPHA:1695Malform.

Non-distal duplication 13q syndrome

ORPHA:1702Malform.

Non-distal duplication 9q syndrome

ORPHA:96112Malform.

Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome

ORPHA:2972Malform.
No data available

Non-syndromic bilambdoid and sagittal craniosynostosis

ORPHA:1516Malform.
Autosomal recessive

Noonan syndrome

ORPHA:648Malform.
Autosomal dominant, Autosomal recessive

Noonan syndrome with multiple lentigines

ORPHA:500Malform.
Autosomal dominant

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

ORPHA:363972Malform.
Autosomal dominant

Noonan syndrome-like disorder with loose anagen hair

ORPHA:2701Malform.
Autosomal dominant

Norrie disease

ORPHA:649Malform.
X-linked recessive

OBSOLETE: Cleft lip-retinopathy syndrome

ORPHA:1995Malform.

OSLAM syndrome

ORPHA:2760Malform.
Autosomal dominant

Occipital pachygyria and polymicrogyria

ORPHA:280640Malform.
Autosomal recessive