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Disease	Synonyms	Description	Articles	Phenotypes
CD45 deficiency		A severe combined immunodeficiency that is an auto..[+] A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. [-]
CD3delta deficiency	CD3D	A severe combined immunodeficiency that is charact..[+] A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. [-]
CD3epsilon deficiency		A severe combined immunodeficiency that has_materi..[+] A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. [-]
CD3gamma deficiency		A severe combined immunodeficiency that has_materi..[+] A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. [-]
coronin-1A deficiency		A severe combined immunodeficiency that is an acti..[+] A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. [-]
CD40 ligand deficiency	X-linked hyper-IgM syndrome; HIGMX-1	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. [-]
cell type benign neoplasm		A benign neoplasm that is classified by the type o..[+] A benign neoplasm that is classified by the type of cell or tissue from which it is derived. [-]		4 matches
central nervous system benign neoplasm		A nervous system benign neoplasm that is character..[+] A nervous system benign neoplasm that is characterized by lack of malignancy. [-]
cardiovascular organ benign neoplasm		An organ system benign neoplasm disease located_in..[+] An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. [-]		4 matches
cartilage cancer		A connective tissue tumor that can be a benign cho..[+] A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. [-]
central nervous system embryonal tumor	CNS embryonal tumour, NEC/NOS; central nervous sys.. [+] CNS embryonal tumour, NEC/NOS; central nervous system primitive neuroectodermal neoplasm [-]	A central nervous system cancer of children and yo..[+] A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. [-]
cerebellar medulloblastoma		A cerebellum cancer that begins in the lower part ..[+] A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. [-]
cervical benign neoplasm		A female reproductive organ benign neoplasm that i..[+] A female reproductive organ benign neoplasm that is located_in the cervix. [-]
connective tissue benign neoplasm	soft tissue benign neoplasm; tumor of the soft tis.. [+] soft tissue benign neoplasm; tumor of the soft tissue; neoplasm of soft tissue; neoplasm of soft tissues; mesenchymal tissue neoplasm [-]	A musculoskeletal system benign neoplasm that is l..[+] A musculoskeletal system benign neoplasm that is located_in connective tissue. [-]
color agnosia		An agnosia that is a loss of the ability to recogn..[+] An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. [-]
cortical deafness		An agnosia that is a loss of the ability to percei..[+] An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. [-]
childhood spinal muscular atrophy	spinal muscular atrophies of childhood; survival m.. [+] spinal muscular atrophies of childhood; survival motor neuron spinal muscular atrophy [-]	A spinal muscular atrophy that is associated with ..[+] A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. [-]
colitis		An inflammatory bowel disease that involves inflam..[+] An inflammatory bowel disease that involves inflammation located_in colon. [-]
collagenous colitis		A colitis characterized by a distinctive thickenin..[+] A colitis characterized by a distinctive thickening of the subepithelial collagen table. [-]
Clostridium difficile colitis	Pseudomembranous colitis	A colitis characterized by an overgrowth of Clostr..[+] A colitis characterized by an overgrowth of Clostridium difficile bacteria. [-]
chemical colitis		A colitis caused_by introduction of various chemic..[+] A colitis caused_by introduction of various chemicals. [-]
Crohn's colitis		An inflammatory bowel disease characterized by inf..[+] An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. [-]
Cogan syndrome	Cogan's syndrome; diffuse interstitual keratitis	An eye disease characterized by nonsyphilitic inte..[+] An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. [-]
Cogan-Reese syndrome		An eye disease characterized by variable iris atro..[+] An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. [-]
CREST syndrome		A syndrome characterized by calcinosis, Raynaud's ..[+] A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. [-]
cardiofaciocutaneous syndrome	CFC syndrome; cardio-facial-cutaneous syndrome	A RASopathy characterized by unusually sparse, bri..[+] A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. [-]	1 articles
Carpenter syndrome	acrocephalopolysyndactyly type II	An acrocephalosyndactylia characterized by cranios..[+] An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. [-]
carnitine palmitoyltransferase II deficiency	CPT-II; infantile carnitine palmitoyltransferase I.. [+] CPT-II; infantile carnitine palmitoyltransferase II deficiency; late-onset carnitine palmitoyltransferase II deficiency; lethal neonatal carnitine palmitoyltransferase II deficiency [-]	A lipid metabolism disorder characterized by an en..[+] A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. [-]
congenital ptosis		A ptosis characterized by eyelid drop present at b..[+] A ptosis characterized by eyelid drop present at birth. [-]
combined oxidative phosphorylation deficiency		A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. [-]
cornea plana	flat cornea	A corneal disease that is characterized by a flat ..[+] A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D. [-]
cold-induced sweating syndrome	Crisponi syndrome; Sohar-Crisponi syndrome	A syndrome that is characterized by profuse sweati..[+] A syndrome that is characterized by profuse sweating induced by cold ambient temperature. [-]
complement component 2 deficiency		A complement deficiency that is characterized by r..[+] A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene. [-]
congenital secretory chloride diarrhea 1	congenital secretory chloride diarrhoea 1; congeni.. [+] congenital secretory chloride diarrhoea 1; congenital chloridorrhea; congenital chloride diarrhea finnish type; congenital chloride diarrhoea finnish type [-]	A secretory diarrhea characterized by excretion of..[+] A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome 7q31. [-]	3 articles
complement component 4a deficiency		A complement deficiency that is characterized by r..[+] A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency. [-]
complement component 4b deficiency		A complement deficiency that is characterized by r..[+] A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency. [-]
complement component 6 deficiency		A complement deficiency that is characterized by r..[+] A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. [-]
complement component 7 deficiency		A complement deficiency that is characterized by r..[+] A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene. [-]
complement component 9 deficiency		A complement deficiency that is characterized by r..[+] A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. [-]
cardiac arrest	circulatory arrest; cardiopulmonary arrest	A congestive heart failure characterized by a sudd..[+] A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. [-]	3 articles
cervical polyp		A cervix disease characterized by a benign polyp o..[+] A cervix disease characterized by a benign polyp on the surface of the cervical canal. [-]
CEDNIK syndrome	cerebral dysgenesis, neuropathy, ichthyosis and ke.. [+] cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome [-]	A syndrome that has_material_basis_in homozygous m..[+] A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. [-]
chronic atrial and intestinal dysrhythmia	CAID syndrome	A syndrome characterized by a unique combination o..[+] A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). [-]
ciliopathy		A syndrome associated with mutations encoding defe..[+] A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. [-]	25 articles	74 matches
chylomicron retention disease	CMRD; Anderson disease	A lipid metabolism disorder characterized by malnu..[+] A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. [-]
Chilblain lupus		A cutaneous form of systemic lupus erythermatosus ..[+] A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene. [-]
chondrodysplasia Blomstrand type	Blomstrand lethal chondrodysplasia	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. [-]
chromosomal deletion syndrome		A chromosomal disease that has_material_basis_in p..[+] A chromosomal disease that has_material_basis_in partial deletion of chromosomes. [-]		19 matches
chromosome 10q23 deletion syndrome		A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2. [-]
chromosome 13q14 deletion syndrome	deletion 13q14	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. [-]

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