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"

49 matching diseasesClear search ×

Isolated congenital femoral bifurcation

Isolated congenital distal femoral duplication

ORPHA:667589

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

ORPHA:96078

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

ORPHA:96072

Congenital elbow dislocation, bilateral

ORPHA:295227

Congenital elbow dislocation, unilateral

ORPHA:295225

Congenital isolated ACTH deficiency

ORPHA:199296

Congenital knee dislocation

ORPHA:295034

Congenital megaprepuce

Isolated congenital buried penis

ORPHA:696897

Congenital patella dislocation

ORPHA:295036

Familial congenital mirror movements

Familial congenital controlateral synkinesia · Hereditary congenital controlateral synkinesia

ORPHA:238722

Familial isolated congenital asplenia

ORPHA:101351

Isolated anal canal duplication

ACD

ORPHA:684752

Isolated apodia

Isolated congenital absence of foot

ORPHA:294986

Isolated colonic duplication

Isolated duplication of the colon

ORPHA:662392

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 hepatic fibrosis

Isolated CHF

ORPHA:485426

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 congenital sclerocornea

ORPHA:91490

Isolated congenital syngnathia

Isolated congenital maxillomandibular fusion

ORPHA:141214

Isolated digestive duplication cyst of the tongue

Enteric duplication cyst of the tongue · Foregut duplication cyst of the tongue

ORPHA:141071

Isolated duodenal duplication

Isolated duplication of the duodenum

ORPHA:662473

Isolated esophageal duplication cyst

ORPHA:100047

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

ORPHA:1987

Isolated gallbladder duplication

ORPHA:662388

Isolated gastric duplication

Isolated stomach duplication

ORPHA:662376

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-radio-ulnar synostosis

Isolated congenital humero-radioulnar fusion

ORPHA:3266

Isolated humero-ulnar synostosis

Isolated congenital humeroulnar fusion

ORPHA:94056

Isolated jejuno-ileal duplication

Isolated duplication of the jejunum and ileum

ORPHA:662480

Isolated nail clubbing

Isolated congenital acropachy · Isolated congenital digital clubbing

ORPHA:217059

Isolated proximal femoral focal deficiency

PFFD · CPFD

ORPHA:633228

Isolated pyloric duplication

Isolated duplication cyst of the pyloric canal · Isolated duplication cyst of the pylorus

ORPHA:662405

Isolated radio-ulnar synostosis

Isolated congenital radioulnar fusion

ORPHA:3269

Isolated rectal duplication

ORPHA:171220

Isolated small intestine duplication

ORPHA:662456

Isolated tibio-fibular synostosis

Isolated congenital tibiofibular fusion

ORPHA:295028

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

ORPHA:631