Rare Disease Library

Caudal duplication

Dipygus · Split notochord syndrome

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

NARP syndrome

Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome · Neuropathy-ataxia-retinitis pigmentosa syndrome

Nevo syndrome

Cerebral gigantism, Nevo type

NOCARH syndrome

Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome · Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noonan syndrome

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

SHORT syndrome

Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome

Sotos syndrome

Cerebral gigantism

Spastic paraplegia-severe developmental delay-epilepsy syndrome

SPPRS syndrome · Spastic paraplegia-psychomotor retardation-seizures syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome