Rare Disease Library

OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features

OBSOLETE: Ichthyosis associated with ocular features

OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens

OBSOLETE: Lipoma associated with neurospinal dysraphism

OBSOLETE: Metabolic disease associated with ocular features

OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly

OBSOLETE: Multiple epiphyseal dysplasia, unclassified type

OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies

OBSOLETE: Pierre Robin sequence associated with miscellaneous anomalies

OBSOLETE: Platelet function disease associated with renal insufficiency

OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies

OBSOLETE: Primary lymphedema with associated anomalies

OBSOLETE: Progeria-associated arthropathy

OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy

OBSOLETE: Renal cell carcinoma associated with neuroblastoma

OBSOLETE: Renal cell carcinoma after neuroblastoma

OBSOLETE: Sequence or association

OBSOLETE: Sickle cell disease associated with another hemoglobin anomaly

OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly

OBSOLETE: Sucking/swallowing disorder associated to cervicofacial or esophageal malformation

OBSOLETE: Sucking/swallowing disorder associated with a neuromuscular disease

OBSOLETE: Sucking/swallowing disorder associated with an identified syndrome

OBSOLETE: Sucking/swallowing disorder associated with basal ganglia anomalies

OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies

OBSOLETE: Sucking/swallowing disorder associated with neurologic anomalies

OBSOLETE: Sucking/swallowing disorder associated with posterior fossa anomalies

OBSOLETE: Sucking/swallowing disorder associated with suprabulbar anomalies

OBSOLETE: Syndrome associated with a congenital cardiopathy

OBSOLETE: Syndrome associated with Pierre Robin syndrome

OBSOLETE: Syndrome associated with Pierre Robin sequence

OBSOLETE: Syndromic ichthyosis associated with ocular features

OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia

OBSOLETE: Unclassified familial retinal dystrophy

OBSOLETE: Unclassified glomerulonephritis

OBSOLETE: Unclassified metaphyseal chondrodysplasia

OBSOLETE: Unclassified overlapping connective tissue disease

OBSOLETE: Unclassified primitive or secondary maculopathy

OBSOLETE: Unclassified spondylometaphyseal dysplasia

OBSOLETE: Vascular tumor with associated anomalies

OBSOLETE: Vitiligo-associated autoimmune disease

Otomandibular dysplasia associated with monogenic syndromes

Pantothenate kinase-associated neurodegeneration

Hallervorden-Spatz syndrome · NBIA1

Parenteral nutrition-associated cholestasis

PNAC

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

Pelizaeus-Merzbacher disease, classic form

Classic PMD

Peripheral neuropathy associated with monoclonal gammopathy

Pierre Robin syndrome associated with a chromosomal anomaly

Pierre Robin sequence associated with a chromosomal anomaly

Pierre Robin syndrome associated with bone disease

Pierre Robin sequence associated with bone disease

Pierre Robin syndrome associated with branchial archs anomalies

Pierre Robin sequence associated with branchial archs anomalies

Pierre Robin syndrome associated with collagen disease

Pierre Robin sequence associated with collagen disease

PLA2G6-associated neurodegeneration

PLAN