Rare Disease Library

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

Blepharophimosis-intellectual disability syndrome, Ohdo type

BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Feingold syndrome

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

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted 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

Oligocone trichromacy

Oligocone syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability 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

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Serotonin syndrome

Serotonergic syndrome · Serotonin storm

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

SOPH syndrome

Subaortic stenosis-short stature syndrome

Onat syndrome