Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

40 matching diseasesClear search ×

Juberg-Hayward syndrome

Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome

ORPHA:2319

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

ORPHA:915

Catel-Manzke syndrome

Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome · Index finger anomaly-Pierre Robin syndrome

ORPHA:1388

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

ORPHA:1514

Craniofaciofrontodigital syndrome

Cantu craniofaciofrontodigital syndrome

ORPHA:363705

Craniofrontonasal dysplasia

CFND · CFNS

ORPHA:1520

Craniomicromelic syndrome

ORPHA:1524

Fetal iodine syndrome

ORPHA:1910

Flat face-microstomia-ear anomaly syndrome

Blepharophimosis-telecanthus-microstomia syndrome · Simosa-Penchaszadeh-Bustos syndrome

ORPHA:1968

Harrod syndrome

Cranio-facio-digito-genital syndrome

ORPHA:2115

LUMBAR syndrome

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

ORPHA:83628

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

ORPHA:238744

Neurofaciodigitorenal syndrome

Freire Maia-Pinheiro-Opitz syndrome

ORPHA:2673

OBSOLETE: Cerebrorenodigital syndrome

ORPHA:1396

OBSOLETE: DDX59-related orofaciodigital syndrome

ORPHA:369902

OBSOLETE: Orofaciodigital syndrome type 10

OBSOLETE: Orofaciodigital syndrome with fibular aplasia · OBSOLETE: OFD10

ORPHA:2756

OBSOLETE: Orofaciodigital syndrome type 12

OBSOLETE: OFD12 · OBSOLETE: Moran-Barroso syndrome

ORPHA:141327

OBSOLETE: Orofaciodigital syndrome type 13

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

ORPHA:141330

OBSOLETE: Otopalatodigital syndrome

ORPHA:669

Occipital horn syndrome

ORPHA:198

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

ORPHA:2710

Orofaciodigital syndrome

OFD · Oral-facial-digital syndrome

ORPHA:140997

Orofaciodigital syndrome type 1

OFD1 · OFDI

ORPHA:2750

Orofaciodigital syndrome type 11

OFD11 · Oral-facial-digital syndrome type 11

ORPHA:141000

Orofaciodigital syndrome type 14

Microcephaly-cerebral malformation-orofaciodigital syndrome · OFD14

ORPHA:434179

Orofaciodigital syndrome type 18

OFD18 · Oral-facial-digital syndrome type 18

ORPHA:508501

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

ORPHA:2751

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

ORPHA:2752

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome

ORPHA:2753

Orofaciodigital syndrome type 5

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

ORPHA:2919

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

ORPHA:2754

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7

ORPHA:90649

Orofaciodigital syndrome type 8

OFD8 · Oral-facial-digital syndrome type 8

ORPHA:2755

Orofaciodigital syndrome type 9

Oral-facial-digital syndrome type 9 · Oral-facial-digital syndrome with retinal abnormalities

ORPHA:141007

Oromandibular-limb hypogenesis syndrome

Oroacral syndrome

ORPHA:2749

Osteocraniostenosis

Gracile bone dysplasia · Osteocraniosplenic syndrome

ORPHA:2763

Otodental syndrome

Globodontia · Otodental dysplasia

ORPHA:2791

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

ORPHA:90650

Otopalatodigital syndrome type 2

OPD II syndrome · OPD syndrome 2

ORPHA:90652

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

ORPHA:2715