Rare Disease Library

BIDS syndrome

Amish brittle hair syndrome · Trichothiodystrophy type D

Acquired kinky hair syndrome

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

Amish infantile epilepsy syndrome

Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome

Aplastic anemia-intellectual disability-dwarfism syndrome

AMeD syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Brittle cornea syndrome

Ehlers-Danlos syndrome type 6B

Brittle hair syndrome, Sabinas type

Brittle hair-mental deficiency syndrome · Trichothiodystrophy type B

Diaphyseal medullary stenosis-bone malignancy syndrome

Bone dysplasia-medullary fibrosarcoma syndrome · Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Hypertrichosis cubiti

MacDermot-Patton-Williams syndrome · Hairy elbows syndrome

Isolated anterior cervical hypertrichosis

Hairy throat syndrome · Tsukahara-Kajii syndrome

Monilethrix

Moniliform hair syndrome

Netherton syndrome

Bamboo hair syndrome · Comèl-Netherton syndrome

Syndrome with woolly hair

Uncombable hair syndrome

Pili trianguli et canaliculi

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

Woolly hair

Familial woolly hair syndrome · Familial wooly hair syndrome