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Disease Synonyms Description Articles Phenotypes
Burkitt lymphoma
Burkitt lymphoma/leukaemia; Burkitt's Lymphoma; Bu.. [+]
A mature B-cell neoplasm of B-cells found in the g..[+]
Buruli ulcer disease
Bairnsdale ulcer; Daintree ulcer; Mossman ulcer; S.. [+]
A primary bacterial infectious disease that result..[+]
C-P angle neurinoma
Cerebellopontine Angle Neurinoma;
n_a
C1 inhibitor deficiency
Quincke edema;
A complement deficiency that is a functional defic..[+]
CADASIL
cerebral autosomal dominant arteriopathy with subc.. [+]
An autosomal dominant cerebrovascular disorder cha..[+]
CADASIL 1
autosomal dominant cerebral arteriopathy with subc.. [+]
A CADASIL characterized by migraine, strokes, and ..[+]
CADASIL 2
autosomal dominant cerebral arteriopathy with subc.. [+]
A CADASIL characterized by stroke, transient ische..[+]
CAKUT
Congenital anomalies of the kidney and urinary tra.. [+]
A urinary system disease characterized by structur..[+]
CAKUT1
A CAKUT that has_material_ basis_in heterozygous m..[+]
CAKUT2
A CAKUT that has_material_basis_in heterozygous mu..[+]
CD3delta deficiency
CD3D;
A severe combined immunodeficiency that is charact..[+]
CD3epsilon deficiency
A severe combined immunodeficiency that is an auto..[+]
CD3gamma deficiency
A severe combined immunodeficiency an autosomal re..[+]
CD3zeta deficiency
A severe combined immunodeficiency that affects th..[+]
CD40 deficiency
hyper-IgM syndrome due to CD40 deficiency; immunod.. [+]
A combined T cell and B cell immunodeficiency that..[+]
CD40 ligand deficiency
HIGMX-1; X-linked hyper-IgM syndrome;
A combined T cell and B cell immunodeficiency that..[+]
CD45 deficiency
A severe combined immunodeficiency that is an auto..[+]
CEDNIK syndrome
cerebral dysgenesis, neuropathy, ichthyosis and ke.. [+]
An autosomal recessive disease that has material b..[+]
CHARGE syndrome
CHARGE association;
A syndrome that is acterized by a pattern of conge..[+]
CINCA Syndrome
chronic infantile neurological cutaneous articular.. [+]
A hypersensitivity reaction type II disease charac..[+]
CLL/SLL
chronic lymphocytic leukemia/small lymphocytic lym.. [+]
A chronic lymphocytic leukemia that is characteriz..[+]
COL4A1-related familial vascular leukoencephalopathy
autosomal dominant retinal arteriolar tortuosity, .. [+]
A brain disease characterized by autosomal dominan..[+]
CREST syndrome
A syndrome characterized by calcinosis, Raynaud's ..[+]
CST3-related cerebral amyloid angiopathy
Amyloidosis VI; Amyloidosis, Cerebroarterial, Icel.. [+]
A cerebral amyloid angiopathy that has_material_ba..[+]
Caffey disease
cortical congenital hyperostosis; infantile cortic.. [+]
A bone inflammation disease that causes bone chang..[+]
Camurati-Engelmann disease
Diaphyseal dysplasia; Engelman's disease; progress.. [+]
An osteosclerosis that has_material_basis_in mutat..[+]
Canavan disease
CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degen.. [+]
n_a
Capgras syndrome
Capgras delusion theory;
A delusional disorder in which a person holds a de..[+]
Caplan's syndrome
Caplan syndrome; Caplan's disease; Caplans syndrom.. [+]
A pneumoconiosis that results_in humans that also ..[+]
Carey-Fineman-Ziter syndrome
A syndrome characterized by hypotonia, Moebius seq..[+]
Carney complex
Carney complex variant; Carney Complex, Type 1; Ca.. [+]
An autosomal dominant disease characterized by myx..[+]
Caroli disease
A bile duct disease that is characterized by abnor..[+]
Carpenter syndrome
acrocephalopolysyndactyly type II;
An acrocephalosyndactylia characterized by cranios..[+]
Carrion's disease
Carrion disease; Oroya fever;
A bartonellosis that results_in infection located_..[+]
Castleman disease
angiofollicular lymph hyperplasia; angiofollicular.. [+]
A lymphoproliferative syndrome characterized by on..[+]
Cauda equina syndrome
A peripheral nervous system disease that involves ..[+]
Cayman type cerebellar ataxia
Cayman cerebellar ataxia;
A cerebellar ataxia characterized by marked autoso..[+]
Cenani-Lenz syndactyly syndrome
syndactyly type 7;
A dysostosis characterized by syndactyly, malforma..[+]
Chagas disease
American trypanosomiasis; Chagas' disease; chagas'.. [+]
A trypanosomiasis that is a tropical parasitic dis..[+]
Chandler syndrome
Chandler's syndrome (disorder); Dystrophy of corne.. [+]
n_a
Chapare hemorrhagic fever
A viral infectious disease that is a hemorrhagic f..[+]
Char syndrome
A patent ductus arteriosus with facial dysmorphism..[+]
Charcot-Marie-Tooth disease
Charcot Marie Tooth muscular atrophy; CMT - Charco.. [+]
A neuromuscular disease that is characterized by a..[+]
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth neuropathy X-linked dominant 1.. [+]
A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth neuropathy X-linked dominant 6.. [+]
A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
Charcot-Marie-Tooth disease X-linked recessive 2
Charcot-Marie-Tooth neuropathy X-linked recessive .. [+]
A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
Charcot-Marie-Tooth disease X-linked recessive 3
Charcot-Marie-Tooth neuropathy X-linked recessive .. [+]
A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
Charcot-Marie-Tooth disease X-linked recessive 4
axonal motor sensory neuropathy with deafness and .. [+]
A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth neuropathy X-linked recessive .. [+]
A Charcot-Marie-Tooth disease X-linked that has_ma..[+]
Charcot-Marie-Tooth disease axonal type 2C
autosomal cominant axonal Charcot-Marie-Tooth dise.. [+]
A Charcot-Marie-Tooth disease type 2 that has_mate..[+]

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