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"

54 matching diseasesClear search ×

Noonan syndrome-like disorder with loose anagen hair

NS/LAH · Mazzanti syndrome

ORPHA:2701

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

ORPHA:2717

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

ORPHA:2751

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome

ORPHA:2753

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

ORPHA:217335

Short stature due to growth hormone qualitative anomaly

Kowarski syndrome

ORPHA:629