Rare Disease Library

Nevus comedonicus syndrome

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

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Proteus syndrome

Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

Sebastian syndrome

Macrothrombocytopenia with leukocyte inclusions

Seckel syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

SERKAL syndrome

Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

Triple A syndrome

2A syndrome · 3A syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome