Rare Diseases and Related Terms
Rare diseases terms are either (1) terms for which information requests have
been made to the Office of Rare Diseases Research, the Genetic and Rare Diseases
Information Center, or the National Human Genome Research Institute; or (2)
diseases that have been suggested as being rare. The purpose of the Rare
Diseases and Related Terms list is to distribute information; although the list
is updated regularly, it should not be used as a reference or guarantee that a
condition is rare. The prevalence of a rare disease is usually an estimate and
may change over time. A rare (or orphan) disease is generally considered to have
a prevalence of fewer than 200,000 affected individuals in the United States.
Certain diseases with 200,000 or more affected individuals may be included in
this list if certain subpopulations of people who have the disease are equal to
the prevalence standard for rare diseases. We welcome suggestions for additions
to or deletions from the list. Your recommendations may be sent via e-mail to
ord@od.nih.gov
Browse by Condition
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C syndrome
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CACH syndrome
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CADASIL
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Cafe au lait spots, multiple
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Caffey disease
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CAHMR syndrome
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Calabro syndrome
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Calcifying Epithelial Odontogenic Tumor
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Calciphylaxis
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Calloso-genital dysplasia
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Calvarial hyperostosis
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Camera Marugo Cohen syndrome
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CAMFAK syndrome
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Campomelia Cumming type
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Campomelic syndrome
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Camptobrachydactyly
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Camptocormism
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Camptodactyly arthropathy coxa vara pericarditis syndrome
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Camptodactyly joint contractures and facial skeletal dysplasia
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Camptodactyly syndrome Guadalajara type 1
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Camptodactyly syndrome Guadalajara type 2
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Camptodactyly taurinuria
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Camptodactyly vertebral fusion
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Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
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Camptodactyly, tall stature, and hearing loss syndrome
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Camptodactyly-ichthyosis syndrome
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Camptomelic syndrome long limb type
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Camurati Engelmann disease, type 2
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Camurati-Engelmann disease
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Canavan disease
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Candidiasis familial chronic mucocutaneous, autosomal recessive
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CANOMAD syndrome
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Cantalamessa Baldini Ambrosi syndrome
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Cantu Sanchez-Corona Fragoso syndrome
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Cantu Sanchez-Corona Garcia-cruz syndrome
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Cantu Sanchez-Corona Hernandez syndrome
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Cantu syndrome
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Capillary leak syndrome with monoclonal gammopathy
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Capillary venous leptomeningeal angiomatosis
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Carbamoyl phosphate synthase 1 deficiency
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Carbamoyl-phosphate synthase I deficiency disease (ornithine carbamoyl phosphate deficiency)
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Carbon baby syndrome
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Carcinoid syndrome
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Carcinoid tumor
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Carcinoid tumor, Childhood
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Carcinoma of the vocal tract
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Carcinoma of unknown primary site, childhood
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Carcinoma, squamous cell
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Carcinoma, squamous cell of head and neck
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Cardiac and laterality defects
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Cardiac conduction defect, familial
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Cardiac diverticulum
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Cardiac hydatid cysts with intracavitary expansion
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Cardiac rupture
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Cardiac valvular dysplasia, X-linked
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Cardioauditory syndrome of Sanchez Cascos
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Cardiocranial syndrome
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Cardiofacial syndrome short limbs
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Cardiofaciocutaneous syndrome
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Cardiogenital syndrome
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Cardiomelic syndrome Stratton Koehler type
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Cardiomyopathy cataract hip spine disease
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Cardiomyopathy diabetes deafness
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Cardiomyopathy dilated with conduction defect type 1
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Cardiomyopathy dilated with conduction defect type 2
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Cardiomyopathy dilated with Woolly hair and keratoderma
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Cardiomyopathy due to anthracyclines
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Cardiomyopathy hearing loss type t RNA lysine gene mutation
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Cardiomyopathy hypogonadism collagenoma syndrome
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Cardiomyopathy hypogonadism metabolic anomalies
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Cardiomyopathy spherocytosis
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Cardiomyopathy, familial dilated
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Cardiomyopathy, fatal fetal, due to myocardial calcification
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Cardiomyopathy, infantile histiocytoid
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Cardiomyopathy, X-linked, fatal infantile
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Cardioskeletal myopathy-neutropenia
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Cardiospasm
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Carnevale Canun Mendoza syndrome
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Carnevale Hernandez Castillo syndrome
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Carnevale syndrome
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Carney syndrome
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Carnitine palmitoyl transferase 1A deficiency
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Carnitine palmitoyl transferase 2 deficiency
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Carnitine palmitoyltransferase I deficiency , muscle
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Carnitine transporter deficiency
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Carnitine-acylcarnitine translocase deficiency
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Carnosinase deficiency
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Carnosinemia
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Caroli disease
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Carpal deformity migrognathia microstomia
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Carpenter Hunter type
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Carpenter syndrome
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Carpo tarsal osteolysis recessive
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Carpotarsal osteochondromatosis
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Carrington syndrome
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Cartilage hair hypoplasia like syndrome
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Cartilage-hair hypoplasia
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Cartilaginous cancer
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Cartwright Nelson Fryns syndrome
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Caspase-8 deficiency
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Cassavism
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Castleman's disease
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Castro Gago Pombo Novo syndrome
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Cat Eye syndrome
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Cat Rodrigues syndrome
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Cat Scratch Disease
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Catamenial pneumothorax
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Cataplexy
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Cataract and cardiomyopathy
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Cataract and congenital ichthyosis
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Cataract anterior polar dominant
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Cataract ataxia deafness
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Cataract congenital autosomal dominant
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Cataract congenital dominant non nuclear
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Cataract congenital Volkmann type
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Cataract dental syndrome
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Cataract Hutterite type
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Cataract hypertrichosis mental retardation
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Cataract mental retardation hypogonadism
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Cataract microcornea syndrome
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Cataract microphthalmia septal defect
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Cataract skeletal anomalies
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Cataract, alopecia, sclerodactyly
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Cataract, autosomal recessive congenital 2
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Cataract, congenital, with microcornea or slight microphthalmia
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Cataract, congenital, with microphthalmia
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Cataract, microphthalmia and nystagmus
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Cataract, posterior polar, 1
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Cataract, posterior polar, 5
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Cataract, total congenital
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Cataract, zonular
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Cataract,posterior polar, 3
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Cataract,posterior polar, 4
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Cataract-glaucoma
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Cataracts, ataxia, short stature, and mental retardation
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Catastrophic Antiphospholipid Syndrome
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Catatrichy
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Catecholamine hypertension
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Catel Manzke syndrome
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Caudal appendage deafness
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Caudal duplication
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Caudal regression syndrome
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Cavernous lymphangioma
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Cayler cardiofacial syndrome
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CCA syndrome
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Ccge syndrome
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CD3 deficiency
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CD4 deficiency
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CDG syndrome type 3
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CDG syndrome type 4
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CDK4 linked melanoma
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Cecato De lima Pinheiro syndrome
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Celiac disease epilepsy occipital calcifications
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Cennamo Gangemi syndrome
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Central core disease
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Central nervous system lymphoma, primary
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Central nervous system protozoal infections
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Central pontine myelinolysis
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Central serous chorioretinopathy
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Centromeric instability immunodeficiency syndrome
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Centronuclear myopathy, congenital
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Centrotemporal epilepsy
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Cephalopolysyndactyly
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Ceramide trihexosidosis
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Cercarial Dermatitis
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Cerebellar agenesis
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Cerebellar astrocytoma, childhood
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Cerebellar ataxia
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Cerebellar ataxia ectodermal dysplasia
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Cerebellar ataxia infantile with progressive external ophthalmoplegia
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Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
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Cerebellar ataxia, dominant pure
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Cerebellar degeneration
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Cerebellar degeneration, subacute
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Cerebellar hypoplasia
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Cerebellar hypoplasia tapetoretinal degeneration
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Cerebellar hypoplasia with endosteal sclerosis
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Cerebellar parenchymal degeneration
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Cerebelloolivary atrophy
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Cerebelloparenchymal disorder 3
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Cerebellum agenesis hydrocephaly
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Cerebral aneurysm
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Cerebral astrocytoma, adult
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Cerebral astrocytoma, childhood
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Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
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Cerebral calcification cerebellar hypoplasia
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Cerebral calcifications opalescent teeth phosphaturia
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Cerebral cavernous hemangioma
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Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
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Cerebral gigantism jaw cysts
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Cerebral palsy, ataxic
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Cerebral palsy, athetoid
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Cerebral palsy, mixed
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Cerebral palsy, spastic, diplegic
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Cerebral palsy, spastic, hemiplegic
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Cerebral palsy, spastic, monoplegic
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Cerebral palsy, spastic, quadriplegic
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Cerebral sarcoma
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Cerebral ventricle cancer
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Cerebro facio thoracic dysplasia
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Cerebro oculo dento auriculo skeletal syndrome
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Cerebro oculo genital syndrome
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Cerebro oculo skeleto renal syndrome
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Cerebro reno digital syndrome
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Cerebro-costo-mandibular syndrome
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Cerebrocostomandibular-like syndrome
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Cerebro-oculo-facio-skeletal syndrome
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Cerebrospinal fluid leak
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Cerebrotendinous xanthomatosis
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Ceroid lipofuscinosis, neuronal 1
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Ceroid lipofuscinosis, neuronal 10
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Ceroid lipofuscinosis, neuronal 2
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Ceroid lipofuscinosis, neuronal 4
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Ceroid lipofuscinosis, neuronal 5
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Ceroid lipofuscinosis, neuronal 6, late infantile
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Ceroid lipofuscinosis, neuronal 8
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Ceroid lipofuscinosis, neuronal 9
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Ceroid lipofuscinosis, neuronal, infantile
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Ceroid storage disease
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Cerulean cataract
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Cervical hypertrichosis neuropathy
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Cervical hypertrichosis peripheral neuropathy
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Cervical intraepithelial neoplasia
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Cervical ribs sprengel anomaly anal atresia urethral obstruction
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Cervicooculoacoustic syndrome
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Chagas disease
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Chalazion
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Chancroid
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Chandler's syndrome
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CHANDS
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Chang Davidson Carlson syndrome
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Chaotic atrial tachycardia
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Char syndrome
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Charcot-Marie-Tooth disease
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Charcot-Marie-Tooth disease deafness recessive type
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Charcot-Marie-Tooth disease dominant intermediate 1
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Charcot-Marie-Tooth disease dominant intermediate 2
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Charcot-Marie-Tooth disease dominant intermediate 3
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Charcot-Marie-Tooth disease neuronal type A
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Charcot-Marie-Tooth disease neuronal type B
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Charcot-Marie-Tooth disease neuronal type D
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Charcot-Marie-Tooth disease type 1A
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Charcot-Marie-Tooth disease type 1B
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Charcot-Marie-Tooth disease type 1C
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Charcot-Marie-Tooth disease type 1D
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Charcot-Marie-Tooth disease type 1E
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Charcot-Marie-Tooth disease type 1F
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Charcot-Marie-Tooth disease type 2A
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Charcot-Marie-Tooth disease type 2B
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Charcot-Marie-Tooth disease type 2B1
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Charcot-Marie-Tooth disease type 2B2
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Charcot-Marie-Tooth disease type 2C
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Charcot-Marie-Tooth disease type 2D
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Charcot-Marie-Tooth disease type 2E
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Charcot-Marie-Tooth disease type 2F
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Charcot-Marie-Tooth disease type 2G
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Charcot-Marie-Tooth disease type 2H
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Charcot-Marie-Tooth disease type 2I
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Charcot-Marie-Tooth disease type 2J
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Charcot-Marie-Tooth disease type 2K
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Charcot-Marie-Tooth disease type 4A
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Charcot-Marie-Tooth disease type 4B1
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Charcot-Marie-Tooth disease type 4B2
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Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
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Charcot-Marie-Tooth disease type 4C
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Charcot-Marie-Tooth disease type 4E
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Charcot-Marie-Tooth disease with ptosis and parkinsonism
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Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant
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Charcot-Marie-Tooth disease X-linked 1
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Charcot-Marie-Tooth disease X-linked recessive 2
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Charcot-Marie-Tooth disease X-linked recessive 3
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Charcot-Marie-Tooth type 1 aplasia cutis congenita
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CHARGE syndrome
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Charlie M syndrome
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Chavany-Brunhes syndrome
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Chediak-Higashi syndrome
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Cheilitis glandularis
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Chemke Oliver Mallek syndrome
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Cherubism
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Chester porphyria
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Chiari-Frommel syndrome
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Chikungunya
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CHILD syndrome ichthyosis
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Childhood disintegrative disorder
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Childhood medulloblastoma
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Childhood-onset cerebral X-linked adrenoleukodystrophy
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Childhood-Onset Schizophrenia
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Chitayat Haj Chahine syndrome
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Chitayat Meunier Hodgkinson syndrome
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Chitayat Moore Del Bigio syndrome
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Chitty Hall Baraitser syndrome
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Chitty Hall Webb syndrome
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Choanal atresia deafness cardiac defects dysmorphia
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Cholecystitis
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Choledochal cyst, hand malformation
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Cholemia, familial
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Cholera
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Cholestasis
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Cholestasis pigmentary retinopathy cleft palate
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Cholestasis, benign recurrent intrahepatic 1
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Cholestasis, benign recurrent intrahepatic 2
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Cholestasis, intrahepatic of pregnancy
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Cholestasis, progressive familial intrahepatic 1
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Cholestasis, progressive familial intrahepatic 2
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Cholestasis, progressive familial intrahepatic 3
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Cholestasis, progressive familial intrahepatic 4
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Cholestatic jaundice renal tubular insufficiency
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Cholesteatoma
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Cholesterol esterification disorder
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Cholesterol pneumonia
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Chondroblastoma (benign)
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Chondrocalcinosis 1
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Chondrocalcinosis 2
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Chondrocalcinosis due to Apatite crystal deposition
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Chondrodysplasia
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Chondrodysplasia lethal recessive
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Chondrodysplasia pseudohermaphrodism syndrome
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Chondrodysplasia punctata
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Chondrodysplasia punctata 1, X-linked recessive
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Chondrodysplasia punctata with steroid sulfatase deficiency
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Chondrodysplasia punctata, humero-metacarpal type
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Chondrodysplasia punctata, Sheffield type
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Chondrodysplasia situs inversus imperforate anus polydactyly
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Chondrodysplasia, acromesomelic, with genital anomalies
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Chondrodysplasia, blomstrand type
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Chondrodysplasia, Grebe type
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Chondrodystrophy
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Chondroectodermal dysplasia
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Chondroma (benign)
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Chondromalacia
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Chondromatosis (benign)
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Chondrosarcoma
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Chordoma
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Chorea familial benign
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Chorea minor
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Chorea, remitting with nystagmus and cataracts
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Choreoacanthocytosis
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Choreoacanthocytosis amyotrophic
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Choriocarcinoma
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Chorioretinal atrophy, progressive bifocal
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Chorioretinitis
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Chorioretinopathy dominant form microcephaly
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Choroid plexus calcification with mental retardation
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Choroid Plexus cancer
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Choroid plexus cyst
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Choroidal dystrophy central areolar
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Choroideremia
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Choroideremia hypopituitarism
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Choroiditis
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Christian Demyer Franken syndrome
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Christian Johnson Angenieta syndrome
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Christian syndrome
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Chromomycosis
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Chromophil renal cell carcinoma
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Chromophobe renal cell carcinoma
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Chromosomal triplication
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Chromosome 1, deletion q21 q25
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Chromosome 1, duplication 1p21 p32
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Chromosome 1, monosomy 1p
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Chromosome 1, monosomy 1p22 p13
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Chromosome 1, monosomy 1p31 p22
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Chromosome 1, monosomy 1p32
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Chromosome 1, monosomy 1p34 p32
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Chromosome 1, monosomy 1q25 q32
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Chromosome 1, monosomy 1q32 q42
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Chromosome 1, monosomy 1q4
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Chromosome 1, q42 11 q42 12 duplication
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Chromosome 1, ring
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Chromosome 1, trisomy 1q32 qter
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Chromosome 1, trisomy 1q42 qter
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Chromosome 1, uniparental disomy 1q12 q21
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Chromosome 10, distal trisomy 10q
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Chromosome 10, monosomy 10p
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Chromosome 10, monosomy 10q
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Chromosome 10, ring
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Chromosome 10, trisomy 10p
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Chromosome 10, trisomy 10pter p13
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Chromosome 10, uniparental disomy of
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Chromosome 10p terminal deletion syndrome
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Chromosome 11, deletion 11p
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Chromosome 11, partial trisomy 11q
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Chromosome 11;14 translocation
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Chromosome 11p, partial deletion
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Chromosome 11q partial deletion
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Chromosome 11q trisomy
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Chromosome 12, 12p trisomy
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Chromosome 12, ring
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Chromosome 12, trisomy 12q
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Chromosome 12p deletion
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Chromosome 12p partial deletion
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Chromosome 13, partial monosomy 13q
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Chromosome 13, ring
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Chromosome 13p duplication
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Chromosome 13q deletion
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Chromosome 13q trisomy
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Chromosome 13q-mosaicism
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Chromosome 14 deletion
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Chromosome 14 trisomy
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Chromosome 14, deletion 14q, partial duplication 14p
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Chromosome 14, ring
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Chromosome 14, trisomy mosaic
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Chromosome 14;16 translocation
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Chromosome 14q, partial deletions
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Chromosome 14q, proximal duplication
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Chromosome 14q, terminal deletion
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Chromosome 14q, terminal duplication
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Chromosome 15 ring
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Chromosome 15, distal trisomy 15q
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Chromosome 15, trisomy mosaicism
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Chromosome 15q duplication mosaicism
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Chromosome 15q, partial deletion
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Chromosome 15q, tetrasomy
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Chromosome 15q, trisomy
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Chromosome 16, trisomy
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Chromosome 16, trisomy 16p
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Chromosome 16, uniparental disomy
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Chromosome 16q, trisomy
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Chromosome 17, trisomy
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Chromosome 17, deletion
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Chromosome 17, deletion 17q23 q24
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Chromosome 17, duplication
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Chromosome 17, ring
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Chromosome 17, trisomy 17p
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Chromosome 17, trisomy 17p11 2
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Chromosome 17, trisomy 17q22
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Chromosome 18 deletion syndrome
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Chromosome 18 mosaic monosomy
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Chromosome 18, deletion 18q23
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Chromosome 18, ring
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Chromosome 18, tetrasomy 18p
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Chromosome 18, trisomy 18p
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Chromosome 18, trisomy 18q
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Chromosome 18p deletion syndrome
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Chromosome 19 ring syndrome
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Chromosome 19, ring
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Chromosome 19, trisomy 19q
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Chromosome 1p36 deletion syndrome
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Chromosome 1q deletion
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Chromosome 1q, duplication 1q12 q21
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Chromosome 2, monosomy 2p22
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Chromosome 2, monosomy 2pter p24
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Chromosome 2, monosomy 2q
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Chromosome 2, monosomy 2q24
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Chromosome 2, monosomy 2q37
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Chromosome 2, trisomy 2p
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Chromosome 2, trisomy 2p13 p21
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Chromosome 2, trisomy 2pter p24
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Chromosome 2, trisomy 2q
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Chromosome 2, trisomy 2q37
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Chromosome 20 ring
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Chromosome 20, deletion 20p
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Chromosome 20, duplication 20p
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Chromosome 20, trisomy
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Chromosome 21 monosomy
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Chromosome 21 ring
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Chromosome 21, monosomy 21q22
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Chromosome 21, tetrasomy 21q
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Chromosome 21, uniparental disomy of
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Chromosome 22 ring
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Chromosome 22 trisomy mosaic
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Chromosome 22, microdeletion 22 q11
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Chromosome 22, monosome mosaic
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Chromosome 22, trisomy
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Chromosome 22, trisomy q11 q13
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Chromosome 22q deletion
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Chromosome 2q37 deletion syndrome
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Chromosome 3 duplication syndrome
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Chromosome 3, monosomy 3p
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Chromosome 3, monosomy 3p14 p11
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Chromosome 3, monosomy 3p2
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Chromosome 3, monosomy 3p25
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Chromosome 3, monosomy 3q13
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Chromosome 3, monosomy 3q21 23
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Chromosome 3, monosomy 3q27
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Chromosome 3, trisomy 3p
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Chromosome 3, trisomy 3p25
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Chromosome 3, trisomy 3q
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Chromosome 3, trisomy 3q13 2 q25
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Chromosome 3, Trisomy 3q2
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Chromosome 3q29 microduplication syndrome
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Chromosome 4 ring syndrome
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Chromosome 4 short arm deletion
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Chromosome 4, monosomy 4p14 p16
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Chromosome 4, monosomy 4q
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Chromosome 4, monosomy 4q32
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Chromosome 4, monosomy distal 4q
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Chromosome 4, partial trisomy distal 4q
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Chromosome 4, Trisomy 4p
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Chromosome 4, trisomy 4q
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Chromosome 4, trisomy 4q21
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Chromosome 4, trisomy 4q25 qter
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Chromosome 5, monosomy 5q35
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Chromosome 5, trisomy 5p
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Chromosome 5, trisomy 5pter p13 3
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Chromosome 5, trisomy 5q
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Chromosome 5, uniparental disomy
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Chromosome 6 ring syndrome
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Chromosome 6, deletion 6q13 q15
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Chromosome 6, monosomy 6p23
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Chromosome 6, monosomy 6q
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Chromosome 6, monosomy 6q1
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Chromosome 6, monosomy 6q2
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Chromosome 6, partial trisomy 6q
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Chromosome 6, trisomy 6p
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Chromosome 6, trisomy 6q
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Chromosome 7 ring syndrome
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Chromosome 7, monosomy
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Chromosome 7, monosomy 7q2
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Chromosome 7, monosomy 7q21
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Chromosome 7, monosomy 7q3
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Chromosome 7, partial monosomy 7p
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Chromosome 7, trisomy 7p
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Chromosome 7, trisomy 7p13 p12 2
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Chromosome 7, trisomy 7q
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Chromosome 7, trisomy mosaic
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Chromosome 8 deletion
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Chromosome 8 ring
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Chromosome 8, monosomy 8p
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Chromosome 8, monosomy 8p2
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Chromosome 8, monosomy 8p23 1
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Chromosome 8, monosomy 8q
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Chromosome 8, mosaic trisomy
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Chromosome 8, partial trisomy
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Chromosome 8, trisomy
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Chromosome 8, trisomy 8p
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Chromosome 8, trisomy 8q
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Chromosome 9 inversion or duplication
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Chromosome 9 Ring
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Chromosome 9, deletion 9q21.33q22.32
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Chromosome 9, duplication 9q21
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Chromosome 9, monosomy 9p
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Chromosome 9, partial monosomy 9p
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Chromosome 9, partial trisomy 9p
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Chromosome 9, tetrasomy 9p
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Chromosome 9, trisomy
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Chromosome 9, trisomy 9p
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Chromosome 9, trisomy 9q
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Chromosome 9, trisomy 9q32
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Chromosome 9, trisomy mosaic
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Chromosome 9q deletion syndrome
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Chromosome 9q duplication
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Chromosomes 1 and 2, monosomy 2q duplication 1p
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Chronic berylliosis
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Chronic demyelinizing neuropathy with IgM monoclonal
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Chronic erosive gastritis
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Chronic granulomatous disease
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Chronic hiccup
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Chronic inflammatory demyelinating polyneuropathy
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Chronic lymphocytic leukemia
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Chronic myelogenous leukemia
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Chronic myelomonocytic leukemia
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Chronic Myeloproliferative Disorders
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Chronic necrotizing vasculitis
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Chronic neutropenia
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Chronic polyradiculoneuritis
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Chronic recurrent multifocal osteomyelitis
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Chronic, Infantile, Neurological, Cutaneous, Articular syndrome
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Chudley Rozdilsky syndrome
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Chudley-Mccullough syndrome
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Churg-Strauss syndrome
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Chylomicron retention disease
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Chylothorax, congenital
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Chylous ascites
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Cicatricial pemphigoid
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Ciguatera fish poisoning
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Ciliary discoordination, due to random ciliary orientation
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Ciliary dyskinesia, due to transposition of ciliary microtubules
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Ciliary dyskinesia-bronchiectasis
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Cilliers Beighton syndrome
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Circumscribed cutaneous aplasia of the vertex
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Circumscribed disseminated keratosis Jadassohn Lew type
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Citrulline transport defect
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Clark-Baraitser syndrome
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Clasped thumbs, congenital
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Classic citrullinemia
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Classic Kaposi sarcoma
-
Clayton-Smith Donnai syndrome
-
Clear cell renal cell carcinoma
-
Cleft hand absent tibia
-
Cleft lip and palate malrotation cardiopathy
-
Cleft lip and/or palate with mucous cysts of lower
-
Cleft lip palate abnormal thumbs microcephaly
-
Cleft lip palate deafness sacral lipoma
-
Cleft lip palate dysmorphism Kumar type
-
Cleft lip palate ectrodactyly
-
Cleft lip palate incisor and finger anomalies
-
Cleft lip palate mental retardation corneal opacity
-
Cleft lip palate oligodontia syndactyly pili torti
-
Cleft lip palate pituitary deficiency
-
Cleft lip palate-tetraphocomelia
-
Cleft lower lip cleft lateral canthi chorioretinal
-
Cleft palate cardiac defect ectrodactyly
-
Cleft palate colobomata radial synostosis deafness
-
Cleft palate heart disease polydactyly absent tibia
-
Cleft palate lateral synechia syndrome
-
Cleft palate short stature vertebral anomalies
-
Cleft palate stapes fixation oligodontia
-
Cleft palate X-linked
-
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
-
Cleft tongue syndrome
-
Cleft upper lip median cutaneous polyps
-
Cleidocranial dysplasia
-
Cleidorhizomelic syndrome
-
C-like syndrome
-
Cloacal exstrophy
-
Clostridium difficile
-
Clostridium sordellii
-
Cloverleaf skull micromelia thoracic dysplasia
-
Cluttering
-
CMV antenatal infection
-
COACH syndrome
-
Coal worker's pneumoconiosis
-
Coarctation of aorta dominant
-
Coarse face hypotonia constipation
-
Coats disease
-
Cocaine antenatal infection
-
Cocaine fetopathy
-
Coccidioidomycosis
-
Coccygodynia
-
Cochleosaccular degeneration of the inner ear and progressive cataracts
-
Cockayne syndrome type A
-
Cockayne syndrome type B
-
Cockayne syndrome type C
-
Cockayne's syndrome
-
CODAS syndrome
-
Coenzyme Q cytochrome c reductase deficiency of
-
Coenzyme Q10 deficiency
-
Coffin syndrome 1
-
Coffin-Lowry syndrome
-
Coffin-Siris syndrome
-
COFS syndrome
-
Cogan-Reese syndrome
-
Cogan's syndrome
-
Cohen Hayden syndrome
-
Cohen Lockood Wyborney syndrome
-
Cohen syndrome
-
Cold agglutination syndrome
-
Cold agglutinin disease
-
Cold contact urticaria
-
Cole Carpenter syndrome
-
Coleman Randall syndrome
-
Collagenopathy, type 2 alpha 1
-
Collagenous colitis
-
Collecting duct carcinoma
-
Collins Pope syndrome
-
Collins Sakati syndrome
-
Colloid cysts of third ventricle
-
Coloboma chorioretinal cerebellar vermis aplasia
-
Coloboma hair abnormality
-
Coloboma of Alar-nasal cartilages with telecanthus
-
Coloboma of choroid and retina
-
Coloboma of eye lens
-
Coloboma of iris
-
Coloboma of lens ala nasi
-
Coloboma of macula
-
Coloboma of macula type B brachydactyly
-
Coloboma of optic nerve
-
Coloboma of optic papilla
-
Coloboma porencephaly hydronephrosis
-
Coloboma, cleft lip/palate and mental retardation syndrome
-
Colobomata unilobar lung heart defect
-
Colobomatous microphthalmia heart disease hearing
-
Colonic atresia
-
Colonic malakoplakia
-
Colorectal Cancer, Childhood
-
Colorectal cancer, hereditary nonpolyposis, type 1
-
Colpocephaly
-
Colver Steer Godman syndrome
-
Combarros Calleja Leno syndrome
-
Combined hyperlipidemia, familial
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Common mesentery
-
Common variable immunodeficiency
-
Compartment syndrome
-
Complement component 2 deficiency
-
Complement component deficiency
-
Complement component receptor 1
-
Complement receptor deficiency
-
Complete atrioventricular canal
-
Complex 1 mitochondrial respiratory chain deficiency
-
Complex 2 mitochondrial respiratory chain deficiency
-
Complex 3 mitochondrial respiratory chain deficiency
-
Complex 4 mitochondrial respiratory chain deficiency
-
Complex 5 mitochondrial respiratory chain deficiency
-
Conductive deafness malformed external ear
-
Conductive hearing loss
-
Condyloma
-
Cone dystrophy
-
Cone dystrophy, x-linked, with tapetal-like sheen
-
Cone rod dystrophy
-
Cone rod dystrophy amelogenesis imperfecta
-
Congenital absence of the sternocleidomastoid muscle
-
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
-
Congenital adrenal hyperplasia type 2
-
Congenital afibrinogenemia
-
Congenital alopecia X-linked
-
Congenital amegakaryocytic thrombocytopenia
-
Congenital amputation
-
Congenital aneurysms of the great vessels
-
Congenital anosmia
-
Congenital antithrombin deficiency
-
Congenital antithrombin deficiency type 2
-
Congenital antithrombin deficiency type 3
-
Congenital aplastic anemia
-
Congenital arteriovenous shunt
-
Congenital articular rigidity
-
Congenital benign spinal muscular atrophy dominant
-
Congenital bilateral aplasia of vas deferens
-
Congenital bronchobiliary fistula
-
Congenital cardiovascular malformations
-
Congenital cardiovascular shunt
-
Congenital central hypoventilation syndrome
-
Congenital chloride diarrhea
-
Congenital contractural arachnodactyly
-
Congenital contractures
-
Congenital craniosynostosis maternal hyperthyroiditis
-
Congenital cystic eye multiple ocular and intracranial anomalies
-
Congenital cytomegalovirus
-
Congenital deafness
-
Congenital diaphragmatic hernia
-
Congenital dislocation of the patella
-
Congenital disorder of glycosylation type 1A
-
Congenital disorder of glycosylation type 1B
-
Congenital disorder of glycosylation type 1C
-
Congenital disorder of glycosylation type 1D
-
Congenital disorder of glycosylation type 1E
-
Congenital disorder of glycosylation type 1F
-
Congenital disorder of glycosylation type 1G
-
Congenital disorder of glycosylation type 1H
-
Congenital disorder of glycosylation type 1I
-
Congenital disorder of glycosylation type 1J
-
Congenital disorder of glycosylation type 1K
-
Congenital disorder of glycosylation type 1L
-
Congenital disorder of glycosylation type 1X
-
Congenital disorder of glycosylation type 2A
-
Congenital disorder of glycosylation type 2D
-
Congenital disorder of glycosylation type 2E
-
Congenital disorder of glycosylation, type 2C
-
Congenital disorder of glycosylation, type 2G
-
Congenital ectodermal dysplasia with hearing loss
-
Congenital fiber type disproportion
-
Congenital generalized fibromatosis
-
Congenital generalized lipodystrophy type 1
-
Congenital generalized lipodystrophy type 2
-
Congenital giant megaureter
-
Congenital heart block
-
Congenital heart disease ptosis hypodontia craniostosis
-
Congenital heart disease radio ulnar synostosis mental retardation
-
Congenital heart septum defect
-
Congenital hemidysplasia with ichtyosiform erythroderma and limbs defects
-
Congenital hemolytic anemia
-
Congenital hepatic fibrosis
-
Congenital herpes simplex
-
Congenital human immunodeficiency virus
-
Congenital hypomyelination neuropathy
-
Congenital hypothyroidism
-
Congenital hypotrichosis milia
-
Congenital ichthyosis, microcephalus, quadriplegia
-
Congenital ichtyosiform erythroderma
-
Congenital megacolon
-
Congenital megalo-ureter
-
Congenital mesoblastic nephroma
-
Congenital microvillous atrophy
-
Congenital mitral malformation
-
Congenital mitral stenosis
-
Congenital mixovirus
-
Congenital mumps
-
Congenital Muscular dystrophy
-
Congenital muscular dystrophy syringomyelia
-
Congenital myasthenic syndrome with episodic apnea
-
Congenital myotonic dystrophy
-
Congenital nephrotic syndrome, Finnish type
-
Congenital nonhemolytic jaundice
-
Congenital pseudoarthrosis
-
Congenital short femur
-
Congenital spherocytic anemia
-
Congenital spherocytic hemolytic anemia
-
Congenital stenosis of cervical medullary canal
-
Congenital sucrose isomaltose malabsorption
-
Congenital thrombotic disease, due to Protein C deficiency
-
Congenital torticollis
-
Congenital unilateral pulmonary hypoplasia
-
Congenital vagal hyperreflexivity
-
Congenital varicella syndrome
-
Congenitally corrected transposition of the great arteries
-
Conjunctivitis ligneous
-
Conjunctivitis with Pseudomembrane
-
Connective tissue dysplasia Spellacy type
-
Connexin 26 anomaly
-
Conn's syndrome
-
Conorenal Syndrome
-
Conotruncal anomaly face syndrome
-
Conotruncal heart malformations
-
Conradi-Hunermann syndrome
-
Constrictive bronchiolitis
-
Continuous muscle fiber activity hereditary
-
Continuous spike-wave during slow sleep syndrome
-
Contractures ectodermal dysplasia cleft lip palate
-
Conversion disorder
-
Convulsions benign familial neonatal dominant form
-
Convulsions, benign familial infantile, 1
-
Copper deficiency, familial benign
-
Coproporphyria
-
CoQ-responsive OXPHOS deficiency
-
Cor biloculare
-
Cor triatriatum
-
Cormier Rustin Munnich syndrome
-
Cornea guttata with anterior polar cataract
-
Corneal anesthesia deafness mental retardation
-
Corneal cerebellar syndrome
-
Corneal crystals myopathy neuropathy
-
Corneal dystrophy
-
Corneal dystrophy and perceptive deafness
-
Corneal dystrophy Avellino type
-
Corneal dystrophy crystalline of Schnyder
-
Corneal dystrophy Fuchs' endothelial 1
-
Corneal dystrophy ichthyosis microcephaly mental retardation
-
Corneal dystrophy of Bowman layer type 1
-
Corneal dystrophy pigmentary anomaly malabsorption
-
Corneal dystrophy Thiel Behnke type
-
Corneal dystrophy, epithelial basement membrane
-
Corneal dystrophy, Fuchs' endothelial, 2
-
Corneal dystrophy, gelatinous drop-like
-
Corneal dystrophy, juvenile epithelial of Meesmann
-
Corneal dystrophy, lattice, type 2
-
Corneal endothelial dystrophy type 2
-
Corneal hypesthesia, familial
-
Cornelia de Lange syndrome 1
-
Cornelia de Lange syndrome 2
-
Cornelia de Lange syndrome 3
-
Corneodermatoosseous syndrome
-
Coronal synostosis, syndactyly and jejunal atresia
-
Coronaro-cardiac fistula
-
Coronary arteries congenital malformation
-
Coronary artery aneurysm
-
Corpus callosum agenesis
-
Corpus callosum agenesis double urinary collecting
-
Corpus callosum agenesis neuronopathy
-
Corpus callosum agenesis of blepharophimosis Robin type
-
Corpus callosum agenesis polysyndactyly
-
Corpus callosum dysgenesis cleft spasm
-
Corpus callosum dysgenesis hypopituitarism
-
Corpus callosum dysgenesis X-linked recessive
-
Corsello Opitz syndrome
-
Cortada Koussef Matsumoto syndrome
-
Cortes Lacassie syndrome
-
Cortical blindness mental retardation polydactyly
-
Cortical defects, wormian bones, and dentinogenesis imperfecta
-
Cortical hyperostosis syndactyly
-
Corticobasal degeneration
-
Cortisone reductase deficiency
-
Costello syndrome
-
Costocoracoid ligament congenitally short
-
Cote Katsantoni syndrome
-
Cousin Walbraum Cegarra syndrome
-
Covesdem syndrome
-
Cowchock syndrome
-
Cowden's disease
-
Coxa vara, congenital
-
Coxoauricular syndrome
-
Cramer Niederdellmann syndrome
-
Cramp-fasciculations syndrome
-
Crandall syndrome
-
Crane-Heise syndrome
-
Cranio osteoarthropathy
-
Cranioacrofacial syndrome
-
Craniodiaphyseal dysplasia
-
Craniodigital syndrome mental retardation
-
Cranioectodermal dysplasia
-
Craniofacial and skeletal defects
-
Craniofacial deafness hand syndrome
-
Craniofacial dysostosis arthrogryposis progeroid appearence
-
Craniofacial dysostosis type 1
-
Craniofacial dyssynostosis
-
Craniofaciocardioskeletal syndrome
-
Craniofaciocervical osteoglyphic dysplasia
-
Craniofrontonasal dysplasia
-
Craniofrontonasal syndrome Teebi type
-
Craniometaphyseal dysplasia, autosomal dominant
-
Craniometaphyseal dysplasia, autosomal recessive type
-
Craniomicromelic syndrome
-
Craniopharyngioma
-
Craniorachischisis
-
Craniostenosis cataract
-
Craniostenosis with congenital heart disease mental retardation
-
Craniosynostosis
-
Craniosynostosis alopecia brain defect
-
Craniosynostosis arthrogryposis cleft palate
-
Craniosynostosis autosomal dominant
-
Craniosynostosis cleft lip palate arthrogryposis
-
Craniosynostosis contractures cleft
-
Craniosynostosis exostoses nevus epibulbar dermoid
-
Craniosynostosis fibular aplasia
-
Craniosynostosis Fontaine type
-
Craniosynostosis Maroteaux Fonfria type
-
Craniosynostosis mental retardation clefting syndrome
-
Craniosynostosis mental retardation heart defects
-
Craniosynostosis Philadelphia type
-
Craniosynostosis radial aplasia syndrome
-
Craniosynostosis synostoses hypertensive nephropathy
-
Craniosynostosis Warman type
-
Craniosynostosis, anal anomalies, and porokeratosis
-
Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus
-
Craniosynostosis-mental retardation syndrome of Lin and Gettig
-
Craniotelencephalic dysplasia
-
Crawfurd syndrome
-
Creatine deficiency, X-linked
-
Creeping disease
-
CREST syndrome
-
Cretinism
-
Cretinism athyreotic
-
Creutzfeldt-Jakob disease
-
Cri du chat syndrome
-
Crigler Najjar syndrome, type 1
-
Crigler Najjar syndrome, type 2
-
Crisponi syndrome
-
Crohn's disease of the esophagus
-
Crome syndrome
-
Cronkhite-Canada disease
-
Crossed polydactyly type 1
-
Crossed polysyndactyly
-
Crumpled helices and small mouth
-
Cryofibrinogenemia
-
Cryptococcosis
-
Cryptogenic organized pneumopathy
-
Cryptomicrotia brachydactyly syndrome
-
Cryptophthalmos
-
Cryptorchidism arachnodactyly mental retardation
-
Cryptosporidiosis
-
Crystal deposit disease
-
Culler Jones syndrome
-
Curly hair ankyloblepharon nail dysplasia syndrome
-
Curly hair-acral keratoderma-caries syndrome
-
Currarino triad
-
Curry Hall syndrome
-
Curtis Rogers Stevenson syndrome
-
Cushing syndrome, familial
-
Cushing's symphalangism
-
Cushing's syndrome
-
Cutaneous anthrax
-
Cutaneous larva migrans
-
Cutaneous lupus erythematosus
-
Cutaneous photosensitivity and colitis, lethal
-
Cutaneous T-cell lymphoma
-
Cutaneous vascularitis
-
Cutis Gyrata syndrome of Beare and Stevenson
-
Cutis gyratum acanthosis nigricans craniosynostosis
-
Cutis laxa
-
Cutis laxa corneal clouding mental retardation
-
Cutis laxa osteoporosis
-
Cutis laxa with joint laxity and retarded development
-
Cutis laxa, dominant type
-
Cutis laxa, recessive
-
Cutis laxa, recessive type 2
-
Cutis marmorata telangiectatica congenita
-
Cutis verticis gyrata
-
Cutis verticis gyrata mental deficiency
-
Cutler Bass Romshe syndrome
-
Cyclic neutropenia
-
Cyclic vomiting syndrome
-
Cyclosporiasis
-
Cyclosporosis
-
Cyprus facial neuromusculoskeletal syndrome
-
Cystic adenomatoid malformation of lung
-
Cystic fibrosis
-
Cystic fibrosis gastritis megaloblastic anemia
-
Cystic hamartoma of lung and kidney
-
Cystic hygroma
-
Cystic hygroma lethal cleft palate
-
Cystic medial necrosis of aorta
-
Cysticercosis
-
Cystin transport, protein defect of
-
Cystinosis
-
Cystinosis, ocular nonnephropathic
-
Cystinuria
-
Cystinuria-lysinuria
-
Cystosarcoma phyllodes
-
Cytochrome C oxidase deficiency
-
Cytokine deficiency
-
Cytokine receptor deficiency
-
Cytomegalic inclusion disease
-
Cytomegalovirus
-
Cytomegalovirus retinitis
-
Cytoplasmic body myopathy
-
Czech dysplasia, metatarsal type
-
Czeizel Losonci syndrome
-
Czeizel syndrome
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