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primary hyperoxaluria type 2
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DOID_0111671 |
[A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2.] |
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osteogenesis imperfecta type 2
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DOID_0110341 |
[An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.] |
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primary hyperoxaluria type 3
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DOID_0111672 |
[A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2.] |
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primary hyperoxaluria type 1
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DOID_0111670 |
[A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3.] |
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glutamate formiminotransferase deficiency
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DOID_0111679 |
[A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3.] |
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osteogenesis imperfecta type 12
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DOID_0110348 |
[An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13.] |
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osteogenesis imperfecta type 9
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DOID_0110349 |
[An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22.] |
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osteogenesis imperfecta type 10
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DOID_0110346 |
[An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13.] |
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familial benign fleck retina
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DOID_0111677 |
[A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13.] |
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hereditary folate malabsorption
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DOID_0111678 |
[A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2.] |
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osteogenesis imperfecta type 15
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DOID_0110347 |
[An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13.] |
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osteogenesis imperfecta type 5
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DOID_0110344 |
[An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15.] |
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neurooculocardiogenitourinary syndrome
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DOID_0111675 |
[A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3.] |
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osteogenesis imperfecta type 16
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DOID_0110345 |
[An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11.] |
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high molecular weight kininogen deficiency
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DOID_0111676 |
[A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene.] |
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Saul-Wilson syndrome
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DOID_0111673 |
[A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1.] |
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osteogenesis imperfecta type 13
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DOID_0110342 |
[An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21.] |
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intellectual developmental disorder with short stature and behavioral abnormalities
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DOID_0111674 |
[A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1.] |
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osteogenesis imperfecta type 14
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DOID_0110343 |
[An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31.] |
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ectodermal dysplasia 7
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DOID_0111660 |
[A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13.] |
