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"

17 matching diseasesClear search ×

Woolly hair

Familial woolly hair syndrome · Familial wooly hair syndrome

ORPHA:170

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

ORPHA:3453

BIDS syndrome

Amish brittle hair syndrome · Trichothiodystrophy type D

ORPHA:1245

Familial advanced sleep-phase syndrome

FASPS

ORPHA:164736

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 chylomicronemia syndrome

ORPHA:444490

Familial cold urticaria

FCAS · FCU

ORPHA:47045

Familial episodic pain syndrome

FEPS

ORPHA:391384

Familial monosomy 7 syndrome

ORPHA:495930

Familial multinodular goiter

Familial multinodular goiter syndrome · FMNG

ORPHA:276399

Familial scaphocephaly syndrome

ORPHA:169163

Monilethrix

Moniliform hair syndrome

ORPHA:573

Netherton syndrome

Bamboo hair syndrome · Comèl-Netherton syndrome

ORPHA:634

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

ORPHA:500

Syndrome with woolly hair

ORPHA:434809

Uncombable hair syndrome

Pili trianguli et canaliculi

ORPHA:1410