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Disease	Synonyms	Description	Articles	Phenotypes
brain small vessel disease 1	infantile hemiparesis; brain small vessel disease .. [+] infantile hemiparesis; brain small vessel disease with Axenfeld-Riegar anomaly; brain small vessel disease with hemorrhage; brain small vessel disease with or without ocular anomalies; BSVD; COL4A1-related brain small vessel disease with hemorrhage; leukoencephalopathy with Axenfeld-Riegar anomaly; autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; BSVD1; COL4A1-related familial vascular leukoencephalopathy; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome [-]	A brain small vessel disease that is characterized..[+] A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. [-]
3-methylglutaconic aciduria type 3	Iraqi-Jewish optic atrophy plus; infantile optic a.. [+] Iraqi-Jewish optic atrophy plus; infantile optic atrophy with chorea and spastic paraplegia; 3-methylglutaconic aciduria type III; autosomal recessive optic atrophy plus syndrome; Costeff optic atrophy syndrome; Costeff syndrome; MGA3; autosomal recessive optic atrophy type 3 [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. [-]
neurodegeneration with brain iron accumulation 2a	INAD1; Infantile Neuroaxonal Dystrophy 1; NBIA2a; .. [+] Infantile Neuroaxonal Dystrophy 1; INAD1; NBIA2a; Neurodegeneration, Pla2g6-Associated; Seitelberger Disease [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life. [-]
type 1 diabetes mellitus 2	Insulin-Dependent Diabetes Mellitus 2; IDDM2	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. [-]
type 1 diabetes mellitus 3	Insulin-Dependent Diabetes Mellitus 3; IDDM3	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26. [-]
type 1 diabetes mellitus 4	Insulin-Dependent Diabetes Mellitus 4; IDDM4	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13. [-]
type 1 diabetes mellitus 5	IDDM5; Insulin-Dependent Diabetes Mellitus 5	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1. [-]
type 1 diabetes mellitus 6	Insulin-Dependent Diabetes Mellitus 6; IDDM6	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21. [-]
type 1 diabetes mellitus 7	Insulin-Dependent Diabetes Mellitus 7; IDDM7	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31. [-]
type 1 diabetes mellitus 8	IDDM8; Insulin-Dependent Diabetes Mellitus 8	A type 1 diabetes mellituss that has_material_basi..[+] A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27. [-]
type 1 diabetes mellitus 10	Insulin-Dependent Diabetes Mellitus 10; IDDM10	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1. [-]
type 1 diabetes mellitus 11	IDDM11; Insulin-Dependent Diabetes Mellitus 11	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31. [-]
type 1 diabetes mellitus 12	Insulin-Dependent Diabetes Mellitus 12; IDDM12	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. [-]
type 1 diabetes mellitus 13	Insulin-Dependent Diabetes Mellitus 13; IDDM13	A type 1 diabetes mellituss that has_material_basi..[+] A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34. [-]
type 1 diabetes mellitus 15	Insulin-Dependent Diabetes Mellitus 15; IDDM15	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21. [-]
type 1 diabetes mellitus 17	Insulin-Dependent Diabetes Mellitus 17; IDDM17	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25. [-]
type 1 diabetes mellitus 18	Insulin-Dependent Diabetes Mellitus 18; IDDM18	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1. [-]
type 1 diabetes mellitus 19	IDDM19; Insulin-Dependent Diabetes Mellitus 19	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3. [-]
type 1 diabetes mellitus 20	Insulin-Dependent Diabetes Mellitus 20; IDDM20	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31. [-]
type 1 diabetes mellitus 21	Insulin-Dependent Diabetes Mellitus 21; IDDM21	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25. [-]
type 1 diabetes mellitus 22	Insulin-Dependent Diabetes Mellitus 22; IDDM22	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31. [-]
type 1 diabetes mellitus 23	Insulin-Dependent Diabetes Mellitus 23; IDDM23	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27. [-]
type 1 diabetes mellitus 24	Insulin-Dependent Diabetes Mellitus 24; IDDM24	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31. [-]
hereditary spastic paraplegia 18	intellectual disability, motor dysfunction and joi.. [+] intellectual disability, motor dysfunction and joint contractures; IDMDC; autosomal recessive spastic paraplegia 18; autosomal recessive spastic paraplegia type 18; SPG18 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. [-]
leukocyte adhesion deficiency 3	IADD; integrin activation deficiency disease; LAD1.. [+] integrin activation deficiency disease; IADD; LAD1 variant; LAD3; leukocyte adhesion deficiency 1 variant; leukocyte adhesion deficiency type III; LAD1V [-]	A leukocyte adhesion deficiency that is characteri..[+] A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12. [-]
autosomal recessive osteopetrosis 5	infantile malignant osteopetrosis 3; OPTB5	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. [-]
autosomal recessive osteopetrosis 1	infantile malignant osteopetrosis 1; autosomal rec.. [+] infantile malignant osteopetrosis 1; autosomal recessive Albers-Schonberg disease; OPTB1 [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. [-]
autosomal recessive osteopetrosis 4	infantile malignant osteopetrosis 2; OPTB4	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. [-]
Gaucher's disease type II	Infantile Cerebral Gaucher Disease; Gaucher Diseas.. [+] Infantile Cerebral Gaucher Disease; Gaucher Disease, Acute Neuronopathic Type; GD II; GD2 [-]	A Gaucher's disease characterized by rapid neurolo..[+] A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. [-]
African iron overload	iron overload in Africa; Bantu siderosis	A hemochromatosis characterized by a predispositio..[+] A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. [-]
congenital bile acid synthesis defect 4	intrahepatic cholestasis with defective conversion.. [+] intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid; CBAS4; trihydroxycoprostanic acid in bile [-]	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. [-]
nephronophthisis 2	infantile nephronophthisis 2; NPHP2; NPH2	A nephronophthisis that has_material_basis_in homo..[+] A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. [-]	2 articles	21 matches
congenital mirror movement disorder	isolated congenital mirror movements; isolated con.. [+] isolated congenital mirror movements; isolated congenital controlateral synkinesia; familial congenital controlateral synkinesia; familial congenital mirror movements; hereditary congenital controlateral synkinesia; hereditary congenital mirror movements [-]	A movement disease characterized by involuntary mo..[+] A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. [-]
postural orthostatic tachycardia syndrome	irritable heart; familial orthostatic tachycardia .. [+] irritable heart; familial orthostatic tachycardia due to norepinephrine transporter deficiency; mitral valve prolapse syndrome; neurocirculatory asthenia; orhtostatic intolerance; orthostatic intolerance due to NET deficiency; postural tachycardia syndrome due to NET deficiency; soldiers heart [-]	A heart conduction disease characterized by orthos..[+] A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. [-]
adermatoglyphia	Isolated congenital adermatoglyphia; Immigration d.. [+] Isolated congenital adermatoglyphia; Immigration delay disease; Absence of fingerprints; ADERM; ADG; Congenital absence of fingerprints [-]	A skin disease characterized by lack of epidermal ..[+] A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3. [-]
combined oxidative phosphorylation deficiency 16	infantile hypertrophic cardiomyopathy due to MRPL4.. [+] infantile hypertrophic cardiomyopathy due to MRPL44 deficiency; COXPD16 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. [-]
combined oxidative phosphorylation deficiency 10	infantile hypertrophic mitochondrial cardiomyopath.. [+] infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis; COXPD10; mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. [-]
combined oxidative phosphorylation deficiency 11	infantile encephaloneuromyopathy due to mitochondr.. [+] infantile encephaloneuromyopathy due to mitochondrial translation defect; COXPD11 [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. [-]
bilateral optic nerve hypoplasia	isolated optic nerve hypoplasia/aplasia; familial .. [+] isolated optic nerve hypoplasia/aplasia; familial bilateral optic nerve hypoplasia; ONH [-]	An optic nerve disease characterized by isolated o..[+] An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. [-]
multicentric carpotarsal osteolysis syndrome	idiopathic multicentric osteolysis with or without.. [+] idiopathic multicentric osteolysis with or without nephropathy; autosomal dominant multicentric osteolysis; hereditary osteolysis of carpal bones with or without nephropathy; MCTO; multicentric carpo-tarsal osteolysis with or without nephropathy; multicentric osteolysis nephropathy [-]	A syndrome characterized by progressive loss of bo..[+] A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. [-]
prolidase deficiency	imidodipeptidase deficiency; hyperimidodipeptiduri.. [+] imidodipeptidase deficiency; hyperimidodipeptiduria; peptidase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. [-]
autosomal recessive spinocerebellar ataxia 6	infantile-onset autosomal recessive nonprogressive.. [+] infantile-onset autosomal recessive nonprogressive cerebellar ataxia; autosomal recessive spinocerebellar ataxia type 6; SCAR6 [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. [-]
hyaline fibromatosis syndrome	inherited systemic hyalinosis; HFS; puretic syndro.. [+] inherited systemic hyalinosis; HFS; puretic syndrome; systemic hyalinosis [-]	A connective tissue disease characterized by abnor..[+] A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. [-]
focal nonepidermolytic palmoplantar keratoderma	isolated focal non-epidermolytic palmoplantar kera.. [+] isolated focal non-epidermolytic palmoplantar keratoderma; FNEPPK [-]	A nonepidermolytic palmoplantar keratoderma charac..[+] A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. [-]
partial cryptophthalmia	incomplete cryptophthalmos	An isolated cryptophthalmia characterized by an il..[+] An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea. [-]
X-linked spinal muscular atrophy 2	infantile-onset X-linked spinal muscular atrophy; .. [+] infantile-onset X-linked spinal muscular atrophy; X-linked distal arthrogryposis multiplex congenita; X-linked spinal muscular atrophy type 2; SMAX2; spinal muscular atrophy with arthrogryposis [-]	A spinal muscular atrophy characterized by neonata..[+] A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. [-]
Tonne-Kalscheuer syndrome	intellectual developmental disorder with or withou.. [+] intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia; MRX61; TOKAS; X-linked mental retardation 61 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. [-]
X-Linked immunodeficiency 74	IMD74; respiratory insufficiency due to SARS-CoV-2.. [+] IMD74; respiratory insufficiency due to SARS-CoV-2 viral infection; TLR7 deficiency; X-linked immunodeficiency 74,COVID-19-related [-]	A T cell deficiency characterized by severe respir..[+] A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. [-]
SHOX-related short stature	idiopathic familial short stature	A bone development disease characterized by height..[+] A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. [-]
severe congenital neutropenia 3	infantile agranulocytosis; Kostmann disease; Kostm.. [+] infantile agranulocytosis; Kostmann disease; Kostmann syndrome; SCN3 [-]	A severe congenital neutropenia characterized by b..[+] A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. [-]

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