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"

27 matching diseasesClear search ×

Hemolytic uremic syndrome

HUS

ORPHA:544458

Hemolytic uremic syndrome with DGKE deficiency

HUS with DGKE deficiency

ORPHA:357008

African tick typhus

ORPHA:101334

Alar cartilages hypoplasia-coloboma-telecanthus syndrome

ORPHA:2007

Blepharophimosis-ptosis-epicanthus inversus syndrome

BPES

ORPHA:126

Epidemic typhus

ORPHA:83314

Epignathus

Oropharyngeal teratoma

ORPHA:141077

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

MMCAT syndrome

ORPHA:369970

Murine typhus

Endemic typhus · Flea-borne typhus

ORPHA:83315

Non-syndromic bridging bronchus

ORPHA:648992

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

ORPHA:261559

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation

ORPHA:261572

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a CNV · OBSOLETE: Blepharophimosis types 1 and 2 due to copy number variations

ORPHA:261579

OBSOLETE: Holoacardius amorphus

ORPHA:2161

OBSOLETE: Indian tick typhus

ORPHA:101335

OBSOLETE: Kenya tick typhus

OBSOLETE: Kenya tick-bite fever

ORPHA:101336

Patent urachus

ORPHA:431341

Pseudotyphus of California

ORPHA:83316

Relapsing epidemic typhus

ORPHA:99991

Scrub typhus

Tsutsugamushi disease · Tsutsugamushi fever

ORPHA:83317

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

ORPHA:140952

Syndromic epicanthus

ORPHA:98574

Syndromic telecanthus

ORPHA:98575

Telecanthus-hypertelorism-strabismus-pes cavus syndrome

ORPHA:3293

Typhus-group rickettsiosis

Typhus-group rickettsiae disease

ORPHA:102023

Shiga toxin-associated hemolytic uremic syndrome

Typical HUS · Typical hemolytic uremic syndrome

ORPHA:90038

Streptococcus pneumoniae-associated hemolytic uremic syndrome

S. pneumoniae-associated HUS · SP-HUS

ORPHA:544493