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"

22 matching diseasesClear search ×

Orofaciodigital syndrome type 9

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

ORPHA:141007

Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome

ORPHA:652487

Ichthyosis-oral and digital anomalies syndrome

Clayton Smith-Donnai syndrome

ORPHA:2272

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 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

Radio-ulnar synostosis-retinal pigment abnormalities syndrome

Buntinx-Lormans-Martin syndrome

ORPHA:3271

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

ORPHA:97360

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

ORPHA:2704

WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome

DESSH · Desanto-Shinawi syndrome

ORPHA:466943