Rare Disease Library

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

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

Nicolau syndrome

Embolia cutis medicamentosa · Livedo-like dermatitis

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

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Al Gazali-Nair syndrome

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

Pelvis-shoulder dysplasia

Kosenow syndrome · Scapuloiliac dysostosis

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

Nova syndrome

Progressive supranuclear palsy

PSP syndrome

Rh deficiency syndrome

Rh-null syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Rowell syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

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

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

SAMS syndrome

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

SOPH syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Syndromic nail anomaly

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

Thrombocytopenia-absent radius syndrome

TAR syndrome

Toxic epidermal necrolysis

Lyell syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

W syndrome

Pallister-W syndrome

Wells syndrome

Eosinophilic cellulitis

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome