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 ×

Isolated congenital syngnathia

Isolated congenital maxillomandibular fusion

ORPHA:141214

Congenital megaprepuce

Isolated congenital buried penis

ORPHA:696897

Familial congenital mirror movements

Familial congenital controlateral synkinesia · Hereditary congenital controlateral synkinesia

ORPHA:238722

Familial isolated congenital asplenia

ORPHA:101351

Isolated acheiria

Isolated congenital absence of hand

ORPHA:294983

Isolated apodia

Isolated congenital absence of foot

ORPHA:294986

Isolated congenital aglossia

ORPHA:563951

Isolated congenital alacrima

ORPHA:91416

Isolated congenital anonychia

Isolated anonychia

ORPHA:79143

Isolated congenital anosmia

ORPHA:88620

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

ORPHA:180188

Isolated congenital ectropion

ORPHA:99171

Isolated congenital entropion

ORPHA:519386

Isolated congenital femoral bifurcation

Isolated congenital distal femoral duplication

ORPHA:667589

Isolated congenital hypoglossia

ORPHA:563954

Isolated congenital laryngeal web

ORPHA:2374

Isolated congenital megalocornea

Congenital anterior megalophthalmia

ORPHA:91489

Isolated congenital microcephaly

ORPHA:199642

Isolated congenital radial head dislocation

Isolated congenital elbow dislocation

ORPHA:295032

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

ORPHA:1987

Isolated humero-radial synostosis

Isolated congenital humeroradial fusion

ORPHA:3265

Isolated humero-radio-ulnar synostosis

Isolated congenital humero-radioulnar fusion

ORPHA:3266

Isolated humero-ulnar synostosis

Isolated congenital humeroulnar fusion

ORPHA:94056

Isolated nail clubbing

Isolated congenital acropachy · Isolated congenital digital clubbing

ORPHA:217059

Isolated radio-ulnar synostosis

Isolated congenital radioulnar fusion

ORPHA:3269

Isolated tibio-fibular synostosis

Isolated congenital tibiofibular fusion

ORPHA:295028

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

ORPHA:83471