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Disease	Synonyms	Description
type 1 diabetes mellitus 8	Insulin-Dependent Diabetes Mellitus 8; IDDM8	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	Insulin-Dependent Diabetes Mellitus 11; IDDM11	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	Insulin-Dependent Diabetes Mellitus 19; IDDM19	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; LAD1V; LAD3; leukocyte adhesion deficiency 1 variant; leukocyte adhesion deficiency type III [-]	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 [-]	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 an autosomal recessive mutation of GBA 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; NPH2; NPHP2	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. [-]
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. [-]
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 capsal 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. [-]
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. [-]
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. [-]
thyroid dyshormonogenesis 4	iodotyrosine dehalogenase deficiency; deiodinase d.. [+] iodotyrosine dehalogenase deficiency; deiodinase deficiency; genetic defect in thyroid hormonogenesis 4; TDH4 [-]	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. [-]

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