Rare Disease Library

Linear nevus sebaceus syndrome

Nevus sebaceus of Jadassohn · Nevus sebaceus syndrome

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Acropectorovertebral dysplasia

F syndrome

Aggressive primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Becker nevus syndrome

Pigmented hairy epidermal naevus · Becker naevus syndrome

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

Didymosis aplasticosebacea

Aplasia cutis congenita-nevus sebaceus syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Epidermal nevus syndrome

Epidermal hamartoma syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Focal facial dermal dysplasia type III

FFDD type III · FFDD3

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

H syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Imperforate oropharynx-costovertebral anomalies syndrome

Seghers syndrome

Indolent primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Linear verrucous nevus syndrome

Linear hamartoma syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Moebius syndrome

Möbius syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

NARP syndrome

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

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

Nelson syndrome

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

NESCAV syndrome

Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome

Netherton syndrome

Bamboo hair syndrome · Comèl-Netherton syndrome

Neu-Laxova syndrome

NEVADA syndrome

Nevus epidermicus verrucosus with angiodysplasia and aneurysms

Nevo syndrome

Cerebral gigantism, Nevo type