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"

59 matching diseasesClear search ×

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 proximal femoral focal deficiency

PFFD · CPFD

ORPHA:633228

Isolated pseudoarthrosis of the limbs

Isolated congenital pseudarthrosis of the limbs · Congenital pseudoarthrosis of the limbs

ORPHA:157808

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 tetra-amelia

Isolated total amelia

ORPHA:294971

Isolated tibial hemimelia

Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula

ORPHA:93322

Isolated tibio-fibular synostosis

Isolated congenital tibiofibular fusion

ORPHA:295028

Native American myopathy

Congenital myopathy-cleft palate-malignant hyperthermia syndrome · Bailey-Bloch congenital myopathy

ORPHA:168572

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

ORPHA:631