Rare Disease Library

Primary autoimmune enteropathy

Primary avascular necrosis

Primary AVN

Primary basilar invagination

Bull-Nixon syndrome

Primary benign peritoneal tumor

Primary biliary cholangitis

Hanot syndrome · Primary biliary cirrhosis

Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

PBC/PSC and AIH overlap syndrome · Overlap syndromes of autoimmune liver diseases

Primary bone and joint tuberculosis

Primary musculoskeletal tuberculosis

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

Primary bone dysplasia with decreased bone density

Primary osteodysplasia with decreased bone density · Primary skeletal dysplasia with decreased bone density

Primary bone dysplasia with defective bone mineralization

Primary osteodysplasia with defective bone mineralization · Primary skeletal dysplasia with defective bone mineralization

Primary bone dysplasia with disorganized development of skeletal components

Primary osteodysplasia with disorganized development of skeletal components · Primary skeletal dysplasia with disorganized development of skeletal components

Primary bone dysplasia with increased bone density

Primary osteodysplasia with increased bone density · Primary skeletal dysplasia with increased bone density

Primary bone dysplasia with micromelia

Primary osteodysplasia with micromelia · Primary skeletal dysplasia with micromelia

Primary bone dysplasia with multiple joint dislocations

Primary osteodysplasia with multiple joint dislocations · Primary skeletal dysplasia with multiple joint dislocations

Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments · Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

Primary bone lymphoma

Primary CD59 deficiency

Primary central nervous system lymphoma

PCNSL · Primary CNS lymphoma

Primary central precocious puberty in male

Primary central precocious puberty in boy · Primary CPP in boy

Primary ciliary dyskinesia

PCD

Primary ciliary dyskinesia-retinitis pigmentosa syndrome

Primary ciliary dyskinesia, Kartagener type

Dextrocardia-bronchiectasis-sinusitis syndrome · Immotile cilia syndrome, Kartagener type

Primary condylar hyperplasia

Type 1 condylar hyperplasia

Primary congenital hypothyroidism

Primary congenital hypothyroidism without thyroid developmental anomaly

Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma

Berti lymphoma · Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma

Primary cutaneous amyloidosis

PLCA · Primary localized cutaneous amyloidosis

Primary cutaneous anaplastic large cell lymphoma

Primary C-ALCL · Regressive atypical histiocytosis

Primary cutaneous B-cell lymphoma

Primary cutaneous CD30+ T-cell lymphoproliferative disease

Primary cutaneous Ki-1+ T-cell lymphoproliferative disease

Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma

Primary cutaneous diffuse large B-cell lymphoma, leg type

Diffuse large B-cell lymphoma · DLBCL

Primary cutaneous follicle center lymphoma

PCFCL

Primary cutaneous gamma/delta-positive T-cell lymphoma

Primary cutaneous lymphoma

Primary cutaneous marginal zone B-cell lymphoma

PCMZL

Primary cutaneous peripheral T-cell lymphoma not otherwise specified

Primary cutaneous peripheral T-cell lymphoma NOS · Primary cutaneous unspecified peripheral T-cell lymphoma

Primary cutaneous plasmacytosis

Primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Primary cutaneous tuberculosis

Primary skin tuberculosis

Primary cutis verticis gyrata

Primary desmosis coli

Aplastic desmosis coli

Primary dystonia, DYT13 type

DYT13 · Primary dystonia with mixed phenotype

Primary dystonia, DYT17 type

Primary dystonia, DYT2 type

DYT2

Primary dystonia, DYT21 type

DYT21

Primary dystonia, DYT27 type

Primary dystonia, DYT4 type

DYT4 · Hereditary whispering dysphonia