Rare Disease Library

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

Nelson syndrome

Netherton syndrome

Bamboo hair syndrome · Comèl-Netherton syndrome

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Orofaciodigital syndrome type 5

Oral-facial-digital syndrome type 5 · Orofaciodigital syndrome, Thurston type

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Pai syndrome

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

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Pierson syndrome

Microcoria-congenital nephrosis syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Progressive supranuclear palsy

PSP syndrome

Pyknoachondrogenesis

Camera syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

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

Severe X-linked intellectual disability, Gustavson type

Gustavson 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

Sneddon syndrome

Ehrmann-Sneddon syndrome · Livedo racemosa-cerebrovascular accident syndrome

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome