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Disease	Synonyms	Description	Articles
congenital myopathy 16		A congenital myopathy that is characterized by ons..[+] A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. [-]
congenital myopathy 17		A congenital myopathy that is characterized by hyp..[+] A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15. [-]
congenital myopathy 18		A congenital myopathy that is characterized by the..[+] A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. [-]
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 20		A congenital myopathy that has_material_basis_in h..[+] A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. [-]
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. [-]
congenital myopathy 22A		A congenital myopathy that is characterized by ons..[+] A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. [-]
congenital myopathy 22B		A congenital myopathy that is characterized by in ..[+] A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. [-]
COX deficiency, benign infantile mitochondrial myopathy	Isolated cytochrome C oxidase deficiency	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. [-]
corticobasal degeneration syndrome		A frontotemporal dementia that characterized by th..[+] A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. [-]
Caroli syndrome		A syndrome that is characterized by the presence o..[+] A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. [-]
childhood sarcoma with BCOR genetic alterations		A sarcoma with BCOR genetic alterations that occur..[+] A sarcoma with BCOR genetic alterations that occurs during childhood. [-]
childhood round cell sarcoma with EWSR1-non-ETS fusion		A round cell sarcoma with EWSR1-non-ETS fusion tha..[+] A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. [-]
childhood renal cell carcinoma with MiT translocations		A renal cell carcinoma with MiT translocations tha..[+] A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood. [-]
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities	DYSTONIA 29, CHILDHOOD-ONSET; DYTOABG; MECR-relate.. [+] DYSTONIA 29, CHILDHOOD-ONSET; DYTOABG; MECR-related neurologic disorder; MEPAN syndrome; Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration [-]	A dystonia that is characterized by characterized ..[+] A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later. [-]
cone-rod dystrophy 21		A cone-rod dystrophy that has_material_basis_in ho..[+] A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. [-]
cone-rod dystrophy 22		A cone-rod dystrophy that is characterized by loss..[+] A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. [-]
cone-rod dystrophy 24		A cone-rod dystrophy that is characterized by nigh..[+] A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. [-]
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 chromosomal deletion syndrome characterized by s..[+] A chromosomal 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. [-]	1 articles
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; neonatal-onset multisystem inflammatory disease; NOMID syndrome; Prieur-Griscelli syndrome; IOMID syndrome; infantile-onset multisystem inflammatory disease [-]	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. [-]	1 articles
congenital amegakaryocytic thrombocytopenia	congenital amegakaryocytic thrombocytopenic purpur.. [+] congenital amegakaryocytic thrombocytopenic purpura; CAMT [-]	A thrombocytopenia that is characterized by a seve..[+] A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34. [-]
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	CAP syndrome; camptodactyly-arthropathy-pericardit.. [+] CAP syndrome; camptodactyly-arthropathy-pericarditis syndrome; congenital familial hypertrophic synovitis; CACP syndrome; CACP; familial fibrosing serositis; PAC syndrome; pericarditis-arthropathy-camptodactyly syndrome; arthropathy-camptodactyly syndrome; Jacobs 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. [-]
Carvajal syndrome	Carvajal syndrome; palmoplantar keratoderma with l.. [+] Carvajal syndrome; palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; DCWHK; dilated cardiomyopathy with woolly hair and keratoderma [-]	A Naxos disease that is characterized by dilated c..[+] A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. [-]
carnitine palmitoyltransferase I deficiency	carnitine palmitoyl transferase IA deficiency; CPT.. [+] carnitine palmitoyl transferase IA deficiency; CPT1A deficiency; CPT I deficiency; carnitine palmitoyl transferase 1A deficiency; hepatic carnitine palmitoyl transferase 1 deficiency; hepatic CPT deficiency type I; L-CPT1 deficiency; hepatic carnitine palmitoyl transferase I deficiency [-]	A lipid metabolism disorder that is characterized ..[+] A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. [-]
cortical dysplasia-focal epilepsy syndrome	CDFE syndrome; CDFES; Pitt-Hopkins-like syndrome-1.. [+] CDFES; CDFE syndrome; Pitt-Hopkins-like syndrome-1; PTHSL1 [-]	A brain disease that is characterized by cortical ..[+] A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (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. [-]
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 autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (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 autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (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 autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (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 autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (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 autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 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 is character..[+] A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. [-]
cortisone reductase deficiency 1	CORTRD1	A cortisone reductase deficiency that is character..[+] A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) 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	CMT1A; Charcot-Marie-Tooth neuropathy type 1A; aut.. [+] Charcot-Marie-Tooth neuropathy type 1A; CMT1A; 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; HMS.. [+] CMT1D; Charcot-Marie-Tooth neuropathy type 1D; HMSN ID; HMSN1D; hereditary motor and sensory neuropathy 1D [-]	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	CMT1C; CMT slow nerve conduction type C; Charcot-M.. [+] CMT slow nerve conduction type C; CMT1C; 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 disease slow nerve conduction .. [+] Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy; CMT1B; Charcot-Marie-Tooth neuropathy type 1B; 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). [-]	1 articles
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	CMT2A1; Charcot-Marie-Tooth neuropathy type 2A1; C.. [+] Charcot-Marie-Tooth neuropathy type 2A1; CMT2A1; 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	Charcot-Marie-Tooth neuronal type 2A2; CMT2A2A; CM.. [+] CMT2A2A; Charcot-Marie-Tooth neuronal type 2A2; CMT2A2; Charcot-Marie-Tooth neuropathy 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. [-]
Charcot-Marie-Tooth disease type 2J	Charcot-Marie-Tooth neuropathy type 2J; CMT2J; Cha.. [+] CMT2J; Charcot-Marie-Tooth neuropathy type 2J; Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities [-]	A Charcot-Marie-Tooth disease type 2 characterized..[+] A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. [-]

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