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"

13 matching diseasesClear search ×

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

ORPHA:453

BIDS syndrome

Amish brittle hair syndrome · Trichothiodystrophy type D

ORPHA:1245

Brittle hair syndrome, Sabinas type

Brittle hair-mental deficiency syndrome · Trichothiodystrophy type B

ORPHA:3123

Congenital myopathy with reduced type 2 muscle fibers

Congenital myopathy with type 2 muscle fiber atrophy · Congenital myopathy with fast-twitch fiber atrophy

ORPHA:544602

Congenital reticular ichthyosiform erythroderma

CRIE · IWC

ORPHA:281190

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

ORPHA:91132

Ichthyosis-prematurity syndrome

Congenital ichthyosis type 4 · IPS

ORPHA:88621

OBSOLETE: Congenital ichthyosis with trichothiodystrophy

ORPHA:281234

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

ORPHA:2739

PIBIDS syndrome

Trichothiodystrophy type F · Trichothiodystrophy-sun sensitivity syndrome

ORPHA:670

Pollitt syndrome

Trichorrhexis nodosa syndrome · Trichothiodystrophy type C

ORPHA:75790

Self-improving collodion baby

Self-healing collodion baby · SHCB

ORPHA:281122

Trichothiodystrophy

ORPHA:33364