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Disease	Synonyms	Description	Articles	Phenotypes
combined oxidative phosphorylation deficiency 47	COXPD47;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. [-]
combined oxidative phosphorylation deficiency 48	COXPD48;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. [-]
combined oxidative phosphorylation deficiency 49	COXPD49;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2. [-]
combined oxidative phosphorylation deficiency 5	COXPD5; hypotonia with lactic acidemia and hyperam.. [+] COXPD5; hypotonia with lactic acidemia and hyperammonemia; [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. [-]
combined oxidative phosphorylation deficiency 50	COXPD50;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. [-]
combined oxidative phosphorylation deficiency 51	COXPD51;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. [-]
combined oxidative phosphorylation deficiency 52	COXPD52;	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. [-]
combined oxidative phosphorylation deficiency 53	COXPD53;	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. [-]
combined oxidative phosphorylation deficiency 54	COXPD54;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. [-]
combined oxidative phosphorylation deficiency 55	COXPD55;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. [-]
combined oxidative phosphorylation deficiency 56	COXPD56;	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. [-]
combined oxidative phosphorylation deficiency 57	COXPD57;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. [-]
combined oxidative phosphorylation deficiency 6	COXPD6; Mitochondrial encephalomyopathy due to com.. [+] COXPD6; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6; Mitochondrial encephalomyopathy due to COXPD6; severe X-linked mitochondrial encephalomyopathy; [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. [-]
combined oxidative phosphorylation deficiency 7	COXPD7; severe C12ORF65-related combined oxidative.. [+] COXPD7; severe C12ORF65-related combined oxidative phosphorylation defect; severe C12ORF65-related COXPD; [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. [-]
combined oxidative phosphorylation deficiency 8	COXPD8;	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. [-]
combined oxidative phosphorylation deficiency 9	COXPD9;	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. [-]
combined saposin deficiency	combined SAP deficiency; encephalopathy due to pro.. [+] combined SAP deficiency; encephalopathy due to prosaposin deficiency; PSAPD; [-]	A sphingolipidosis characterized by absence of exp..[+] A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1. [-]
combined thymoma		n_a
comedo carcinoma	Comedocarcinoma;	A ductal carcinoma in situ that is characterized b..[+] A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells. [-]
commensal bacterial infectious disease		A bacterial infectious disease that results_in inf..[+] A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. [-]	1 articles
common bile duct disease		A bile duct disease that is located_in the common ..[+] A bile duct disease that is located_in the common bile duct. [-]
common bile duct neoplasm	neoplasm of common bile duct (disorder); neoplasm .. [+] neoplasm of common bile duct (disorder); neoplasm of common bile duct; [-]	n_a
common cold	acute coryza; acute nasopharyngitis [common cold];.. [+] acute coryza; acute nasopharyngitis [common cold]; acute rhinitis; Acute viral rhinopharyngitis; rhino-sinusitis; Nasopharyngitis - acute; acute Nasopharyngitis; Nasopharyngitis, acute; acute nasopharyngitis; [-]	An upper respiratory tract disease which involves ..[+] An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. [-]
common peroneal nerve lesion		n_a
common variable immunodeficiency	acquired agammaglobulinemia; acquired hypogammaglo.. [+] acquired agammaglobulinemia; acquired hypogammaglobulinemia; CVID; sporadic hypogammaglobulinemia; common variable agammaglobulinemia; [-]	An agammaglobulinemia that is characterized by low..[+] An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens. [-]
common variable immunodeficiency 1		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33. [-]
common variable immunodeficiency 10		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. [-]
common variable immunodeficiency 11		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27. [-]
common variable immunodeficiency 12		A common variable immunodeficiency that is charact..[+] A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. [-]
common variable immunodeficiency 13		A common variable immunodeficiency that is charact..[+] A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. [-]
common variable immunodeficiency 14		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42. [-]
common variable immunodeficiency 2		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. [-]
common variable immunodeficiency 3		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2. [-]
common variable immunodeficiency 4		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. [-]
common variable immunodeficiency 5		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13. [-]
common variable immunodeficiency 6		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p. [-]
common variable immunodeficiency 7		A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32. [-]
common variable immunodeficiency 8	common variable immunodeficiency-8 (CVID8) with au.. [+] common variable immunodeficiency-8 (CVID8) with autoimmunity; [-]	A common variable immunodeficiency that has_materi..[+] A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31. [-]
common wart		A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body. [-]
communicating hydrocephalus		n_a	1 articles	4 matches
communication disorder		A specific developmental disorder that involves sp..[+] A specific developmental disorder that involves specific developmental disorders of speech and language. [-]	4 articles
compartment syndrome	Compartment syndrome; Compartment syndrome (disord.. [+] Compartment syndrome; Compartment syndrome (disorder); Compartmental syndrome, NOS; Compartmental syndrome; [-]	n_a
compensatory emphysema		A pulmonary emphysema that is characterized by ove..[+] A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung. [-]
complement component 2 deficiency		n_a
complement component 3 deficiency	C3 deficiency;	A complement deficiency that is characterized by d..[+] A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections. [-]
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 5 deficiency	C5 deficiency;	A complement deficiency that is characterized by s..[+] A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system. [-]
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. [-]

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