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"

25 matching diseasesClear search ×

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

ORPHA:2754

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

ORPHA:915

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

ORPHA:1454

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

JBTS with JATD · Joubert syndrome with JATD

ORPHA:397715

Joubert syndrome with ocular defect

JS-O · Joubert syndrome with retinopathy

ORPHA:220493

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

ORPHA:2318

Joubert syndrome with renal defect

JS-R

ORPHA:220497

Juberg-Hayward syndrome

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

ORPHA:2319

Neurofaciodigitorenal syndrome

Freire Maia-Pinheiro-Opitz syndrome

ORPHA:2673

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

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 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