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"

10 matching diseasesClear search ×

Silver-Russell syndrome due to 7p11.2p13 microduplication

Silver-Russell syndrome due to 7p11.2-p13 microduplication · Silver-Russell syndrome due to dup(7)(p11.2p13)

ORPHA:231137

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

ORPHA:1672

Silver-Russell syndrome

Silver-Russell dwarfism

ORPHA:813

Silver-Russell syndrome due to 11p15 microduplication

ORPHA:231144

Silver-Russell syndrome due to a point mutation

ORPHA:397590

Silver-Russell syndrome due to an imprinting defect of 11p15

ORPHA:231140

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

UPD(11)mat

ORPHA:231147

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

UPD(7)mat

ORPHA:96182

Trisomy 13 syndrome

Patau syndrome

ORPHA:3378

Trisomy 20p syndrome

Dup(20p) · Duplication of 20p

ORPHA:261318