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"

37 matching diseasesClear search ×

OBSOLETE: Isolated plagiocephaly

OBSOLETE: Synostotic plagiocephaly · OBSOLETE: Non-syndromic unicoronal synostosis

ORPHA:35098

Non-syndromic anal stenosis

Non-syndromic ARM with anal stenosis · Non-syndromic anorectal malformation with anal stenosis

ORPHA:601008

Non-syndromic bicoronal and metopic craniosynostosis

Isolated bicoronal and metopic craniosynostosis · Non-syndromic bilateral coronal and metopic suture synostosis

ORPHA:620198

Non-syndromic bicoronal and sagittal craniosynostosis

Isolated bicoronal and sagittal craniosynostosis · Non-syndromic sagittal and bilateral coronal synostosis

ORPHA:620205

Non-syndromic bicoronal craniosynostosis

Isolated synostotic brachycephaly · Isolated bicoronal craniosynostosis

ORPHA:35099

Non-syndromic bilambdoid craniosynostosis

Isolated bilambdoid craniosynostosis · Non-syndromic bilateral lambdoid synostosis

ORPHA:620178

Non-syndromic craniosynostosis

Isolated craniosynostosis

ORPHA:139390

Non-syndromic metopic craniosynostosis

Isolated metopic craniosynostosis · Non-syndromic metopic suture synostosis

ORPHA:3366

Non-syndromic multisutural craniosynostosis

Isolated multisutural craniosynostosis · Non-syndromic multiple suture synostosis

ORPHA:620152

Non-syndromic pansynostosis

Isolated pansynostosis · Non-syndromic synostosis of all cranial vault sutures

ORPHA:620212

Non-syndromic rectal stenosis

Non-syndromic ARM with rectal stenosis · Non-syndromic anorectal malformation with rectal stenosis

ORPHA:601023

Non-syndromic sagittal craniosynostosis

Isolated scaphocephaly · Isolated sagittal craniosynostosis

ORPHA:35093

Non-syndromic unicoronal and sagittal craniosynostosis

Isolated unicoronal and sagittal craniosynostosis · Non-syndromic unilateral coronal and sagittal suture synostosis

ORPHA:620186

Non-syndromic unicoronal craniosynostosis

Isolated unicoronal craniosynostosis · Non-syndromic unilateral coronal synostosis

ORPHA:620102

Non-syndromic unifrontosphenoidal craniosynostosis

Isolated unifrontosphenoidal craniosynostosis · Non-syndromic unilateral frontosphenoidal suture synostosis

ORPHA:620139

Non-syndromic unilambdoid craniosynostosis

Isolated unilamboid craniosynostosis · Non-syndromic unilateral lambdoid synostosis

ORPHA:620113

Non-syndromic unisquamosal craniosynostosis

Isolated unisquamosal craniosynostosis · Non-syndromic unilateral squamosal suture synostosis

ORPHA:620146

Non-syndromic unisutural craniosynostosis

Isolated unisutural craniosynostosis · Non-syndromic single suture synostosis

ORPHA:620096

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

ORPHA:169446

OBSOLETE: Craniosynostosis-cataract syndrome

ORPHA:1530

OBSOLETE: Craniosynostosis-fibular aplasia syndrome

OBSOLETE: Lowry syndrome

ORPHA:1533

OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome

OBSOLETE: Allain-Babin-Demarquez syndrome · OBSOLETE: Acro-cephalo-synostosis

ORPHA:1526

OBSOLETE: Familial lambdoid synostosis

ORPHA:3267

OBSOLETE: Humero-radial synostosis, unilateral

OBSOLETE: Humero-radial fusion, unilateral

ORPHA:295209

OBSOLETE: Humero-radio-ulnar synostosis, unilateral

OBSOLETE: Humero-radio-ulnar fusion, unilateral

ORPHA:295205

OBSOLETE: Humero-ulnar synostosis, unilateral

OBSOLETE: Humero-ulnar fusion, unilateral

ORPHA:295213

OBSOLETE: Infantile non-syndromic cataract

ORPHA:217052

OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome

OBSOLETE: Novak syndrome

ORPHA:2005

OBSOLETE: Radio-ulnar synostosis, bilateral

OBSOLETE: Radio-ulnar fusion, bilateral

ORPHA:295219

OBSOLETE: Radio-ulnar synostosis, unilateral

OBSOLETE: Radio-ulnar fusion, unilateral

ORPHA:295217

OBSOLETE: Rare non-syndromic cataract

ORPHA:217049

OBSOLETE: Syndromes with synostoses of limbs

ORPHA:294961

OBSOLETE: Syndromic frontonasal dysplasia

OBSOLETE: Syndromic median cleft syndrome

ORPHA:391479

OBSOLETE: Syndromic inherited retinal disorder

OBSOLETE: Syndromic retinal dystrophy

ORPHA:519325

OBSOLETE: Syndromic lymphedema

ORPHA:89832

OBSOLETE: Syndromic myopia

ORPHA:98620

Syndromic craniosynostosis

ORPHA:139393