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"

73 matching diseasesClear search ×

Mosaic trisomy 22 syndrome

Mosaic trisomy chromosome 22 · Trisomy 22 mosaicism

ORPHA:96068

Mosaic trisomy 3 syndrome

Trisomy 3 mosaicism · Mosaic trisomy chromosome 3

ORPHA:100071

Mosaic trisomy 4 syndrome

Mosaic trisomy chromosome 4 · Trisomy 4 mosaicism

ORPHA:96059

Mosaic trisomy 5 syndrome

Trisomy 5 mosaicism · Mosaic trisomy chromosome 5

ORPHA:96060

Mosaic trisomy 7 syndrome

Mosaic trisomy chromosome 7 · Trisomy 7 mosaicism

ORPHA:1747

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

ORPHA:96061

Mosaic trisomy 9 syndrome

Mosaic trisomy chromosome 9 · Trisomy 9 mosaicism

ORPHA:99776

Muenke syndrome

ORPHA:53271

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

ORPHA:588

N syndrome

ORPHA:2608

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

ORPHA:69087

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

ORPHA:623

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

ORPHA:85196

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

ORPHA:3032

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

ORPHA:2717

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

ORPHA:2751

PEHO-like syndrome

ORPHA:99807

Prader-Willi-like syndrome

PWS-like

ORPHA:398073

Proteus-like syndrome

ORPHA:2969

Robinow-like syndrome

Saal-Greenstein syndrome

ORPHA:3105

Sagliker syndrome

ORPHA:300493

Van den Ende-Gupta syndrome

Marden-Walker-like syndrome · VDEGS

ORPHA:2460

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

ORPHA:888

Weaver-like syndrome

ORPHA:3446

Wolfram-like syndrome

ORPHA:411590