Rare Disease Library

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noonan syndrome

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Pai syndrome

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

Painful legs and moving toes syndrome

PLMT syndrome

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Progressive supranuclear palsy

PSP 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

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Sandifer syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Sebastian syndrome

Macrothrombocytopenia with leukocyte inclusions

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

Sheehan 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

Sotos syndrome

Cerebral gigantism

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Thoracolaryngopelvic dysplasia

Barnes syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Tricho-dento-osseous syndrome

TDO syndrome