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 ×

Isolated humero-radio-ulnar synostosis

Isolated congenital humero-radioulnar fusion

ORPHA:3266

Congenital isolated hyperinsulinism

PHHI · Persistent hyperinsulinemic hypoglycemia of infancy

ORPHA:657

Congenital megaprepuce

Isolated congenital buried penis

ORPHA:696897

Familial isolated congenital asplenia

ORPHA:101351

Isolated absence of both forearm and hand

Isolated congenital radio-ulnar terminal transverse meromelia

ORPHA:294979

Isolated absence of upper arm and forearm with hand present

Isolated congenital humero-radio-ulnar intercalary transverse meromelia

ORPHA:294975

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 hepatic fibrosis

Isolated CHF

ORPHA:485426

Isolated congenital hypoglossia

ORPHA:563954

Isolated congenital hypoglossia/aglossia

ORPHA:141152

Isolated congenital laryngeal web

ORPHA:2374

Isolated congenital radial head dislocation

Isolated congenital elbow dislocation

ORPHA:295032

Isolated congenital sclerocornea

ORPHA:91490

Isolated congenital syngnathia

Isolated congenital maxillomandibular fusion

ORPHA:141214

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

ORPHA:1987

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

ORPHA:294973

Isolated humero-radial synostosis

Isolated congenital humeroradial fusion

ORPHA:3265

Isolated humero-ulnar synostosis

Isolated congenital humeroulnar fusion

ORPHA:94056

Isolated hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

ORPHA:294988

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

OBSOLETE: Humero-radial synostosis, bilateral

OBSOLETE: Humero-radial fusion, bilateral

ORPHA:295211

OBSOLETE: Humero-radio-ulnar synostosis, bilateral

OBSOLETE: Humero-radio-ulnar fusion, bilateral

ORPHA:295207

OBSOLETE: Humero-radio-ulnar synostosis, unilateral

OBSOLETE: Humero-radio-ulnar fusion, unilateral

ORPHA:295205

OBSOLETE: Humero-ulnar synostosis, bilateral

OBSOLETE: Humero-ulnar fusion, bilateral

ORPHA:295215

OBSOLETE: Humero-ulnar synostosis, unilateral

OBSOLETE: Humero-ulnar fusion, unilateral

ORPHA:295213

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

ORPHA:83471