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"

7 matching diseasesClear search ×

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to del(20)(p12) · Alagille syndrome due to monosomy 20p12

ORPHA:261600

Alagille syndrome

Alagille-Watson syndrome · Arteriohepatic dysplasia

ORPHA:52

Alagille syndrome due to a JAG1 point mutation

Alagille-Watson syndrome due to a JAG1 point mutation · Arteriohepatic dysplasia due to a JAG1 point mutation

ORPHA:261619

Alagille syndrome due to a NOTCH2 point mutation

Alagille-Watson syndrome due to a NOTCH2 point mutation · Arteriohepatic dysplasia due to a NOTCH2 point mutation

ORPHA:261629

Kleefstra syndrome due to 9q34 microdeletion

9q subtelomeric deletion syndrome · 9qSTDS

ORPHA:96147

Mowat-Wilson syndrome due to monosomy 2q22

Hirschsprung disease and intellectual disability due to 2q22 microdeletion · Hirschsprung disease and intellectual disability due to del(2)(q22)

ORPHA:261537

Okihiro syndrome due to 20q13 microdeletion

Duane-radial ray syndrome due to monosomy 20q13 · Okihiro syndrome due to del(20)(q13)

ORPHA:261638