Rare Disease Library

Linear nevus sebaceus syndrome

Nevus sebaceus of Jadassohn · Nevus sebaceus syndrome

Becker nevus syndrome

Pigmented hairy epidermal naevus · Becker naevus syndrome

Blepharophimosis-intellectual disability syndrome, Ohdo type

BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type

Carcinoid syndrome

Malignant carcinoid syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Chronic atrial and intestinal dysrhythmia syndrome

CAID syndrome · Chronic atrial dysrhythmia-intestinal motility disorder

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

Epidermal nevus syndrome

Epidermal hamartoma syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

KID syndrome

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

Linear verrucous nevus syndrome

Linear hamartoma 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

Nelson syndrome

NESCAV syndrome

Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome

NEVADA syndrome

Nevus epidermicus verrucosus with angiodysplasia and aneurysms

Nevo syndrome

Cerebral gigantism, Nevo type

Nevus comedonicus syndrome

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

Oculofaciocardiodental syndrome

OFCD syndrome · Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Omenn syndrome

Combined immunodeficiency with hypereosinophilia

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Oromandibular-limb hypogenesis syndrome

Oroacral syndrome

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

Subaortic stenosis-short stature syndrome

Onat syndrome

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia