Rare Disease Library

OBSOLETE: Cortada-Koussef-Matsumoto syndrome

OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome

OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome

OBSOLETE: Multiple ventricular septal defects

OBSOLETE: Other immunodeficiency syndrome with predominantly antibody defects

OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk

OBSOLETE: Postsurgical hypopituitarism

OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri

OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome

OBSOLETE: Terminal limb defects

OBSOLETE: Terminal meromelia

OBSOLETE: Terminal transverse defects of arm

OBSOLETE: Congenital limb amputation

Oculoauriculovertebral spectrum with radial defects

Hemifacial microsomia-radial defects syndrome · Moeschler-Clarren syndrome

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

Other immunodeficiency syndromes due to defects in innate immunity

Partial bilateral aplasia of the Müllerian ducts

Incomplete bilateral aplasia of the Müllerian ducts

Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

Piebald trait-neurologic defects syndrome

Telfer-Sugar-Jaeger syndrome

Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome

Pituitary deficiency due to Rathke cleft cysts

Pituitary dermoid and epidermoid cysts

Postsynaptic congenital myasthenic syndrome

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 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 qualitative or quantitative defects of alpha-dystroglycan

Primary alpha-dystroglycanopathy · Primary dystroglycanopathy

PRKAR1B-related neurodegenerative dementia with intermediate filaments

Pulmonary fungal infections in patients deemed at risk

Qualitative or quantitative defects of alpha-actin

Qualitative or quantitative defects of alpha-dystroglycan

Dystroglycanopathy · Alpha-dystroglycanopathy

Qualitative or quantitative defects of alpha-sarcoglycan

Qualitative or quantitative defects of alphaB-cristallin

Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)

Qualitative or quantitative defects of beta-sarcoglycan

Qualitative or quantitative defects of calpain

Qualitative or quantitative defects of caveolin-3

Caveolinopathy

Qualitative or quantitative defects of collagen 6

Qualitative or quantitative defects of delta-sarcoglycan

Qualitative or quantitative defects of desmin

Qualitative or quantitative defects of dysferlin

Dysferlinopathy

Qualitative or quantitative defects of dystrophin

Dystrophinopathy

Qualitative or quantitative defects of emerin

Qualitative or quantitative defects of filamin C

Qualitative or quantitative defects of FKRP

Qualitative or quantitative defects of fukutin

Qualitative or quantitative defects of gamma-sarcoglycan

Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -

Qualitative or quantitative defects of integrin alpha-7

Integrinopathy

Qualitative or quantitative defects of myofibrillar proteins

Qualitative or quantitative defects of myotubularin