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"

8 matching diseasesClear search ×

Familial multinodular goiter

Familial multinodular goiter syndrome · FMNG

ORPHA:276399

Familial articular hypermobility syndrome

Familial joint instability syndrome · Familial joint laxity

ORPHA:2295

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

ORPHA:404560

Familial monosomy 7 syndrome

ORPHA:495930

Familial scaphocephaly syndrome

ORPHA:169163

Multinodular goiter-cystic kidney-polydactyly syndrome

Daneman-Davy-Mancer syndrome · Thyroid-renal-digital anomalies

ORPHA:2091

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

ORPHA:500

Woolly hair

Familial woolly hair syndrome · Familial wooly hair syndrome

ORPHA:170