Rare Disease Library

Fragile X-associated tremor/ataxia syndrome

FXTAS syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

FRAXF syndrome

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Fried syndrome

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Growth deficiency-brachydactyly-dysmorphism syndrome

Frias syndrome

H syndrome

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

Holoprosencephaly-craniosynostosis syndrome

Camero-Lituania-Cohen syndrome · Genoa syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Infantile-onset spinocerebellar ataxia

IOSCA · Ohaha syndrome

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Malpuech syndrome

3MC3 syndrome · Malpuech facial clefting syndrome

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

OBSOLETE: Cranioacrofacial syndrome

OBSOLETE: Grosse syndrome

OBSOLETE: Orofaciodigital syndrome type 10

OBSOLETE: Orofaciodigital syndrome with fibular aplasia · OBSOLETE: OFD10

OBSOLETE: Orofaciodigital syndrome type 12

OBSOLETE: OFD12 · OBSOLETE: Moran-Barroso syndrome

OBSOLETE: Orofaciodigital syndrome type 13

OBSOLETE: Degner syndrome · OBSOLETE: Oral-facial-digital syndrome type 13

Occipital horn 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

Oculootodental syndrome

OOD

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Odonto-tricho-ungual-digito-palmar syndrome

OTUDP syndrome · Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type

Ogden syndrome

Premature aging appearance-developmental delay-cardiac arrhythmia syndrome

Oguchi disease

Congenital stationary night blindness, Oguchi type · Oguchi syndrome

Oley syndrome

Congenital hypotrichosis-milia 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

Orofacial clefting syndrome

Orofaciodigital syndrome

OFD · Oral-facial-digital syndrome

Orofaciodigital syndrome type 1

OFD1 · OFDI

Orofaciodigital syndrome type 11

OFD11 · Oral-facial-digital syndrome type 11

Orofaciodigital syndrome type 14

Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14

Orofaciodigital syndrome type 18

OFD18 · Oral-facial-digital syndrome type 18