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Disease	Synonyms	Description
chronic spontaneous urticaria	chronic idiopathic urticaria	A chronic urticaria that is characterized by urtic..[+] A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. [-]
childhood acute megakaryoblastic leukemia	pediatric non-Down syndrome acute megakaryoblastic.. [+] pediatric non-Down syndrome acute megakaryoblastic leukemia [-]	An acute megakaryocytic leukemia that is character..[+] An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. [-]
cranioectodermal dysplasia 2		A cranioectodermal dysplasia that has_material_bas..[+] A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24. [-]
cerebrooculofacioskeletal syndrome 1		A cerebrooculofacioskeletal syndrome that has_mate..[+] A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. [-]
cerebrooculofacioskeletal syndrome 3		A cerebrooculofacioskeletal syndrome that has_mate..[+] A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33. [-]
Cowden syndrome 5		A Cowden syndrome that has_material_basis_in heter..[+] A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. [-]
Cowden syndrome 7		A Cowden syndrome that has_material_basis_in heter..[+] A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11. [-]
central conducting lymphatic anomaly	lymphatic malformation-7	A lymphatic system disease that is characterized b..[+] A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22. [-]
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	Cerebrofaciothoracic dysplasia; Cerebro-facio-thor.. [+] Cerebrofaciothoracic dysplasia; Cerebro-facio-thoracic dysplasia; Pascual-Castroviejo syndrome; TMCO1 defect syndrome [-]	A syndrome that is characterized by abnormal devel..[+] A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. [-]
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1		A craniofacial dysmorphism, skeletal anomalies, an..[+] A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. [-]
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 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 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. [-]
cauda equina neuroendocrine tumor	Cauda equina neuroendocrine tumour; Spinal neuroen.. [+] Cauda equina neuroendocrine tumour; Spinal neuroendocrine tumors [-]	A cauda equina neoplasm that is a slow-growing, we..[+] A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. [-]
chronic traumatic encephalopathy		A tauopathy that is characterized by an abundance ..[+] A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves. [-]
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	Autosomal dominant multiple pterygium syndrome	A contractures, pterygia, and spondylocarpotarsal ..[+] A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. [-]
congenital myopathy 2C		A congenital myopathy that is characterized by sev..[+] A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B). [-]
congenital myopathy 9B		A congenital myopathy that is neonatal hypotonia f..[+] A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A. [-]
congenital myopathy 19		A congenital myopathy that is characterized by inf..[+] A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36. [-]
congenital myopathy 21		A congenital myopathy that is characterized by dia..[+] A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. [-]
Cenani-Lenz syndactyly syndrome	syndactyly type 7	A dysostosis characterized by syndactyly, malforma..[+] A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. [-]
chromosome 5q deletion syndrome	5q- syndrome, refractory macrocytic anemia due to .. [+] 5q- syndrome, refractory macrocytic anemia due to 5q deletion; myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality [-]	A chromosome deletion syndrome characterized by se..[+] A chromosome deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. [-]
CINCA Syndrome	cryopyrin-associated periodic syndrome 3; chronic .. [+] cryopyrin-associated periodic syndrome 3; chronic neurologic cutaneous and articular syndrome; chronic infantile neurological cutaneous articular syndrome; infantile-onset multisystem inflammatory disease; IOMID syndrome; neonatal-onset multisystem inflammatory disease; NOMID syndrome; Prieur-Griscelli syndrome [-]	An autoimmune disease characterized by neonatal on..[+] An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. [-]
corticosteroid-binding globulin deficiency	CBG deficiency; transcortin deficiency	An adrenal gland disease characterized by decrease..[+] An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. [-]
childhood onset GLUT1 deficiency syndrome 2		A dystonia that is characterized by paroxysmal exe..[+] A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. [-]
congenital amegakaryocytic thrombocytopenia	congenital amegakaryocytic thrombocytopenic purpur.. [+] congenital amegakaryocytic thrombocytopenic purpura; CAMT [-]	A thrombocytopenia characterized by a severe reduc..[+] A thrombocytopenia characterized by a severe reduction in megakaryocyte and platelet numbers that has_material_basis_in homozygous or compound heterozygous mutation in the MPL gene on chromosome 1p34. [-]
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	congenital familial hypertrophic synovitis; CAP sy.. [+] congenital familial hypertrophic synovitis; CAP syndrome; camptodactyly-arthropathy-pericarditis syndrome; CACP syndrome; CACP; arthropathy-camptodactyly syndrome; familial fibrosing serositis; Jacobs syndrome; PAC syndrome; pericarditis-arthropathy-camptodactyly syndrome [-]	A syndrome that is characterized by congenital or ..[+] A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. [-]
carnitine palmitoyltransferase I deficiency	CPT I deficiency; CPT1A deficiency; carnitine palm.. [+] CPT1A deficiency; CPT I deficiency; carnitine palmitoyl transferase IA deficiency; carnitine palmitoyl transferase 1A deficiency; hepatic carnitine palmitoyl transferase 1 deficiency; hepatic carnitine palmitoyl transferase I deficiency; hepatic CPT deficiency type I; L-CPT1 deficiency [-]	A lipid metabolism disorder characterized by autos..[+] A lipid metabolism disorder characterized by autosomal recessive inheritance of impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the CPT1A gene on chromosome 11q13. [-]
cortical dysplasia-focal epilepsy syndrome	CDFES; CDFE syndrome	A brain disease characterized by cortical dysplasi..[+] A brain disease characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in homozygous or compound heterozygous mutation in the CNTNAP2 gene on chromosome 7q35-q36. [-]
complex cortical dysplasia with other brain malformations	CDCBM	A brain disease characterized by aberrant neuronal..[+] A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations including; polymicrogyria, gyral disorganization, fusion of the basal ganglia, thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis and behavioral phenotypes including; intellectual disablility, strabismus, axial hypotonia, and spasticity. [-]
complex cortical dysplasia with other brain malformations 7	CDCBM7; polymicrogyria due to TUBB2B mutation	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. [-]
complex cortical dysplasia with other brain malformations 2	CDCBM2	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the KIF5C gene on chromosome 2q23. [-]
complex cortical dysplasia with other brain malformations 3	CDCBM3	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the KIF2A gene on chromosome 5q12. [-]
complex cortical dysplasia with other brain malformations 5	CDCBM5	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBB2A gene on chromosome 6p25. [-]
complex cortical dysplasia with other brain malformations 6	CDCBM56	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21. [-]
complex cortical dysplasia with other brain malformations 1	cortical dysgenesis with pontocerebellar hypoplasi.. [+] cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation; CDCBM1 [-]	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.3. [-]
complex cortical dysplasia with other brain malformations 4	CDCBM4	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBG1 gene on chromosome 17q21. [-]
cortisone reductase deficiency	CORTRD	An endocrine system disease characterized by failu..[+] An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. [-]
cortisone reductase deficiency 2	CORTRD2	A cortisone reductase deficiency that has_material..[+] A cortisone reductase deficiency that has_material_basis_in heterozygous mutation in the HSD11B1 gene on chromosome 1q32. [-]
cortisone reductase deficiency 1	CORTRD1	A cortisone reductase deficiency that has_material..[+] A cortisone reductase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the H6PD gene on chromosome 1p36. [-]
cystathioninuria	cystathione gamma-lyase deficiency syndrome; cysta.. [+] cystathione gamma-lyase deficiency syndrome; cystathionase deficiency; gamma-cystathionase deficiency [-]	An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. [-]
Charcot-Marie-Tooth disease type 1A	Charcot-Marie-Tooth neuropathy type 1A; CMT1A; aut.. [+] CMT1A; Charcot-Marie-Tooth neuropathy type 1A; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A; hereditary motor and sensory neuropathy 1A; HMSN1A; microduplication 17p12 [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). [-]
Charcot-Marie-Tooth disease type 1F	CMT1F; Charcot-Marie-Tooth neuropathy type 1F	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. [-]
Charcot-Marie-Tooth disease type 1D	Charcot-Marie-Tooth neuropathy type 1D; CMT1D; her.. [+] CMT1D; Charcot-Marie-Tooth neuropathy type 1D; hereditary motor and sensory neuropathy 1D; HMSN ID; HMSN1D [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). [-]
Charcot-Marie-Tooth disease type 1C	CMT slow nerve conduction type C; CMT1C; Charcot-M.. [+] CMT1C; CMT slow nerve conduction type C; Charcot-Marie-Tooth neuropathy type 1C; HMSN IC; HMSN1C; neuropathy hereditary motor and sensory type 1C [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. [-]
Charcot-Marie-Tooth disease type 1B	Charcot-Marie-Tooth neuropathy type 1B; CMT1B; Cha.. [+] CMT1B; Charcot-Marie-Tooth neuropathy type 1B; Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B; hereditary motor and sensory neuropathy IB; HMSN IB; HMSN1B; peroneal muscular atrophy [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). [-]
Charcot-Marie-Tooth disease type 1E	Charcot-Marie-Tooth disease-deafness; CMT1E; Charc.. [+] CMT1E; Charcot-Marie-Tooth disease-deafness; Charcot-Marie-Tooth disease demyelinating type 1E; Charcot-Marie-Tooth disease and deafness; autosomal dominant Charcot-Marie-Tooth neuropathy and deafness [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22) [-]
Charcot-Marie-Tooth disease type 2A1	Charcot-Marie-Tooth neuropathy type 2A1; CMT2A1; C.. [+] CMT2A1; Charcot-Marie-Tooth neuropathy type 2A1; Charcot-Marie-Tooth disease neuronal type 2A1; autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1; hereditary motor and sensory neuropathy IIA1; HMSN IIA1; HMSN2A1 [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. [-]
Charcot-Marie-Tooth disease type 2A2A	CMT2A2; CMT2A2A; Charcot-Marie-Tooth neuropathy ty.. [+] CMT2A2A; CMT2A2; Charcot-Marie-Tooth neuropathy type 2A2; Charcot-Marie-Tooth neuronal type 2A2; autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2; hereditary motor and sensory neuropathy IIA2; HMSN IIA2; HMSN2A2 [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. [-]
Charcot-Marie-Tooth disease type 2B1	Charcot-Marie-Tooth neuropathy type 2B1; CMT2B1; C.. [+] CMT2B1; Charcot-Marie-Tooth neuropathy type 2B1; Charcot-Marie-Tooth disease neuronal type 2B1; autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1; autosomal recessive axonal CMT4C1; autosomal recessive Charcot-Marie-Tooth disease type 2B1 [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. [-]

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