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

3,968 diseases matched (type: Disease)

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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 distal nebulin myopathy

ORPHA:399103Disease

Autosomal recessive

Adolescent, Adult, 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 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 hyper-IgE syndrome due to ZNF341 deficiency

ORPHA:641368Disease

Autosomal recessive

Infancy

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

ORPHA:79644Disease

Autosomal recessive

Neonatal

Autosomal recessive hyperinsulinism due to SUR1 deficiency

ORPHA:79643Disease

Autosomal recessive

Autosomal recessive hypophosphatemic rickets

ORPHA:289176Disease

Autosomal recessive

Childhood, Infancy

Autosomal recessive infantile hypercalcemia

ORPHA:300547Disease

Autosomal recessive

Infancy, Neonatal

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

ORPHA:217055Disease

Autosomal recessive

Childhood

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

ORPHA:254334Disease

Autosomal recessive

Infancy, Neonatal

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

ORPHA:369867Disease

Autosomal recessive

Adult, All ages, Childhood

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

ORPHA:435998Disease

Autosomal recessive

Childhood

Autosomal recessive isolated optic atrophy

ORPHA:98676Disease

Autosomal recessive

Childhood, Infancy, Neonatal

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

ORPHA:538096Disease

Autosomal recessive

Antenatal

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

ORPHA:314572Disease

Autosomal recessive

Infancy, Neonatal

Autosomal recessive limb-girdle muscular dystrophy, type 28

ORPHA:653725Disease

Autosomal recessive

Adolescent, Adult, Childhood

Autosomal recessive lower motor neuron disease with childhood onset

ORPHA:206580Disease

Autosomal recessive

Childhood

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Rare diseases

Autosomal recessive cutis laxa type 2A

Autosomal recessive cutis laxa type 2B

Autosomal recessive distal nebulin myopathy

Autosomal recessive dopa-responsive dystonia

Autosomal recessive epidermolytic ichthyosis

Autosomal recessive extra-oral halitosis

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 hyper-IgE syndrome due to ZNF341 deficiency

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive hypophosphatemic rickets

Autosomal recessive infantile hypercalcemia

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

Autosomal recessive isolated optic atrophy

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Autosomal recessive limb-girdle muscular dystrophy, type 28

Autosomal recessive lower motor neuron disease with childhood onset

Rare (orphan) diseases

Autosomal recessive cutis laxa type 2A

Autosomal recessive cutis laxa type 2B

Autosomal recessive distal nebulin myopathy

Autosomal recessive dopa-responsive dystonia

Autosomal recessive epidermolytic ichthyosis

Autosomal recessive extra-oral halitosis

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 hyper-IgE syndrome due to ZNF341 deficiency

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive hypophosphatemic rickets

Autosomal recessive infantile hypercalcemia

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

Autosomal recessive isolated optic atrophy

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Autosomal recessive limb-girdle muscular dystrophy, type 28

Autosomal recessive lower motor neuron disease with childhood onset