Rare Disease Library

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye 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

Pemphigus erythematosus

Seborrheic pemphigus · Senear-Usher syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Progressive non-infectious anterior vertebral fusion

PAVF · Copenhagen syndrome

Progressive supranuclear palsy

PSP syndrome

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Ptosis-vocal cord paralysis syndrome

Tucker 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

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Rudiger syndrome

Sagliker syndrome

Sandifer syndrome

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner 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

Stickler syndrome

Hereditary progressive arthroophthalmopathy

Stimmler syndrome

Structural heart defects-renal anomalies syndrome

Severe congenital heart defects-renal anomalies syndome · SHDRA syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Trichodental syndrome

Kersey syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia