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

Autosomal recessive cutis laxa type 1

ORPHA:90349Disease

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cutis laxa type 2

ORPHA:90350Clinical group

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cutis laxa type 2, classic type

ORPHA:357074Clinical subtype

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cutis laxa type 2A

ORPHA:357058Disease

Autosomal recessive

Neonatal

Autosomal recessive cutis laxa type 2B

ORPHA:357064Disease

Autosomal recessive

Infancy, Neonatal

Autosomal recessive degenerative and progressive cerebellar ataxia

ORPHA:98098Category

Autosomal recessive

Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature

ORPHA:308041Category

Autosomal recessive

Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

ORPHA:307804Category

Autosomal recessive

Autosomal recessive disease with focal palmoplantar keratoderma as a major feature

ORPHA:98357Category

Autosomal recessive

Autosomal recessive distal hereditary motor neuropathy

ORPHA:140468Category

Autosomal recessive

Autosomal recessive distal myopathy

ORPHA:206653Category

Autosomal recessive

Autosomal recessive distal nebulin myopathy

ORPHA:399103Disease

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Autosomal recessive distal osteolysis syndrome

ORPHA:2776Malformation

Autosomal recessive

Childhood

Autosomal recessive distal renal tubular acidosis

ORPHA:402041Clinical subtype

Autosomal recessive

Childhood, Infancy

Autosomal recessive dopa-responsive dystonia

ORPHA:101150Disease

Autosomal recessive

Infancy, Neonatal

Autosomal recessive epidermolytic ichthyosis

ORPHA:512103Disease

Autosomal recessive

Autosomal recessive extra-oral halitosis

ORPHA:562538Disease

Autosomal recessive

Autosomal recessive faciodigitogenital syndrome

ORPHA:1974Malformation

Autosomal recessive

Neonatal

Autosomal recessive frontotemporal pachygyria

ORPHA:329329Malformation

Autosomal recessive

Infancy, Neonatal

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

ORPHA:89842Disease

Autosomal recessive

Neonatal

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

ORPHA:79408Disease

Autosomal recessive

Neonatal

Autosomal recessive generalized epidermolysis bullosa simplex

ORPHA:89838Disease

Autosomal recessive

Infancy, Neonatal

Autosomal recessive hereditary chronic pancreatitis

ORPHA:700124Disease

Autosomal recessive

Autosomal recessive hereditary demyelinating motor and sensory neuropathy

ORPHA:140459Category

Autosomal recessive

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Rare diseases

Autosomal recessive cutis laxa type 1

Autosomal recessive cutis laxa type 2

Autosomal recessive cutis laxa type 2, classic type

Autosomal recessive cutis laxa type 2A

Autosomal recessive cutis laxa type 2B

Autosomal recessive degenerative and progressive cerebellar ataxia

Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

Autosomal recessive disease with focal palmoplantar keratoderma as a major feature

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal myopathy

Autosomal recessive distal nebulin myopathy

Autosomal recessive distal osteolysis syndrome

Autosomal recessive distal renal tubular acidosis

Autosomal recessive dopa-responsive dystonia

Autosomal recessive epidermolytic ichthyosis

Autosomal recessive extra-oral halitosis

Autosomal recessive faciodigitogenital syndrome

Autosomal recessive frontotemporal pachygyria

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Autosomal recessive generalized epidermolysis bullosa simplex

Autosomal recessive hereditary chronic pancreatitis

Autosomal recessive hereditary demyelinating motor and sensory neuropathy

Rare (orphan) diseases

Autosomal recessive cutis laxa type 1

Autosomal recessive cutis laxa type 2

Autosomal recessive cutis laxa type 2, classic type

Autosomal recessive cutis laxa type 2A

Autosomal recessive cutis laxa type 2B

Autosomal recessive degenerative and progressive cerebellar ataxia

Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

Autosomal recessive disease with focal palmoplantar keratoderma as a major feature

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal myopathy

Autosomal recessive distal nebulin myopathy

Autosomal recessive distal osteolysis syndrome

Autosomal recessive distal renal tubular acidosis

Autosomal recessive dopa-responsive dystonia

Autosomal recessive epidermolytic ichthyosis

Autosomal recessive extra-oral halitosis

Autosomal recessive faciodigitogenital syndrome

Autosomal recessive frontotemporal pachygyria

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Autosomal recessive generalized epidermolysis bullosa simplex

Autosomal recessive hereditary chronic pancreatitis

Autosomal recessive hereditary demyelinating motor and sensory neuropathy