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

Genetic nephrotic syndrome

Hereditary nephrotic syndrome

ORPHA:564127

Hereditary acrokeratotic poikiloderma

Weary syndrome

ORPHA:2907

Hereditary hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract disease · HHCS

ORPHA:163

Hereditary mixed polyposis syndrome

HMPS

ORPHA:157794

Hereditary periodic fever syndrome

ORPHA:324924

Hereditary sick sinus syndrome

ORPHA:166282

Hereditary site-specific ovarian cancer syndrome

ORPHA:213524

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

ORPHA:656

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

ORPHA:63261

Hypertrichosis cubiti

MacDermot-Patton-Williams syndrome · Hairy elbows syndrome

ORPHA:2220

Isolated anterior cervical hypertrichosis

Hairy throat syndrome · Tsukahara-Kajii syndrome

ORPHA:3387

Lowry-Wood syndrome

Epiphyseal dysplasia-microcephaly-nystagmus syndrome

ORPHA:1824

Netherton syndrome

Bamboo hair syndrome · Comèl-Netherton syndrome

ORPHA:634

Syndrome with woolly hair

ORPHA:434809

Syndromic hereditary optic neuropathy

ORPHA:441434

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV

ORPHA:420686