Orphanet Database · Orphadata CC-BY-4.0

Rare (orphan) diseases

The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.

7,547

Diseases

4 552

Genes

8 700

Phenotypes

140

Regions

Diagnostic assistant Drug search Clinical trials Statistics

All (7,547)Bio anomaly Category Clinical group Clinical subtype Clinical syndrome Disease Etiological subtype Histopathological subtype Malformation Morphological anomaly Clinical situation

1,772 diseases matched (type: Malformation)

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Auriculoosteodysplasia

ORPHA:114Malformation

Autosomal dominant

Neonatal

Autosomal dominant brachyolmia

ORPHA:93304Malformation

Autosomal dominant

Childhood

Autosomal dominant deafness-onychodystrophy syndrome

ORPHA:79499Malformation

Autosomal dominant

Antenatal, Neonatal

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

ORPHA:642763Malformation

Autosomal dominant

Childhood, Infancy

Autosomal dominant multiple pterygium syndrome

ORPHA:65743Malformation

Autosomal dominant

Childhood

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

ORPHA:440354Malformation

Autosomal dominant

Antenatal, Neonatal

Autosomal dominant osteopetrosis type 1

ORPHA:2783Malformation

Autosomal dominant

Adolescent, Childhood

Autosomal dominant otospondylomegaepiphyseal dysplasia

ORPHA:166100Malformation

Autosomal dominant

Infancy, Neonatal

Autosomal dominant popliteal pterygium syndrome

ORPHA:1300Malformation

Autosomal dominant

Antenatal, Neonatal

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

ORPHA:476119Malformation

Autosomal dominant

Neonatal

Autosomal dominant prognathism

ORPHA:2964Malformation

Autosomal dominant

Neonatal

Autosomal dominant spondylocostal dysostosis

ORPHA:1797Malformation

Autosomal dominant

No data available

Autosomal recessive anterior segment dysgenesis

ORPHA:519388Malformation

Autosomal recessive

Adolescent, Adult, Childhood

Autosomal recessive brachyolmia

ORPHA:448242Malformation

Autosomal recessive

Childhood

Autosomal recessive chorioretinopathy-microcephaly syndrome

ORPHA:2518Malformation

Autosomal recessive

Neonatal

Autosomal recessive distal osteolysis syndrome

ORPHA:2776Malformation

Autosomal recessive

Childhood

Autosomal recessive faciodigitogenital syndrome

ORPHA:1974Malformation

Autosomal recessive

Neonatal

Autosomal recessive frontotemporal pachygyria

ORPHA:329329Malformation

Autosomal recessive

Infancy, Neonatal

Autosomal recessive malignant osteopetrosis

ORPHA:667Malformation

Autosomal recessive

Infancy, Neonatal

Autosomal recessive multiple pterygium syndrome

ORPHA:2990Malformation

Autosomal recessive

Antenatal, Infancy, Neonatal

Autosomal recessive spondylocostal dysostosis

ORPHA:2311Malformation

Autosomal recessive

Antenatal, Neonatal

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

ORPHA:401979Malformation

Autosomal recessive

Antenatal

Axenfeld-Rieger syndrome

ORPHA:782Malformation

Autosomal dominant

Infancy, Neonatal

Axial mesodermal dysplasia spectrum

ORPHA:1834Malformation

Antenatal

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Rare diseases

Auriculoosteodysplasia

Autosomal dominant brachyolmia

Autosomal dominant deafness-onychodystrophy syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

Autosomal dominant multiple pterygium syndrome

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Autosomal dominant osteopetrosis type 1

Autosomal dominant otospondylomegaepiphyseal dysplasia

Autosomal dominant popliteal pterygium syndrome

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

Autosomal dominant prognathism

Autosomal dominant spondylocostal dysostosis

Autosomal recessive anterior segment dysgenesis

Autosomal recessive brachyolmia

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive distal osteolysis syndrome

Autosomal recessive faciodigitogenital syndrome

Autosomal recessive frontotemporal pachygyria

Autosomal recessive malignant osteopetrosis

Autosomal recessive multiple pterygium syndrome

Autosomal recessive spondylocostal dysostosis

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

Axenfeld-Rieger syndrome

Axial mesodermal dysplasia spectrum

Rare (orphan) diseases

Auriculoosteodysplasia

Autosomal dominant brachyolmia

Autosomal dominant deafness-onychodystrophy syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

Autosomal dominant multiple pterygium syndrome

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Autosomal dominant osteopetrosis type 1

Autosomal dominant otospondylomegaepiphyseal dysplasia

Autosomal dominant popliteal pterygium syndrome

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

Autosomal dominant prognathism

Autosomal dominant spondylocostal dysostosis

Autosomal recessive anterior segment dysgenesis

Autosomal recessive brachyolmia

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive distal osteolysis syndrome

Autosomal recessive faciodigitogenital syndrome

Autosomal recessive frontotemporal pachygyria

Autosomal recessive malignant osteopetrosis

Autosomal recessive multiple pterygium syndrome

Autosomal recessive spondylocostal dysostosis

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

Axenfeld-Rieger syndrome

Axial mesodermal dysplasia spectrum