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autosomal recessive nonsyndromic deafness 15
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DOID_0110470 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13.] |
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autosomal recessive nonsyndromic deafness 16
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DOID_0110471 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15.] |
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autosomal recessive nonsyndromic deafness 20
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DOID_0110478 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter.] |
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autosomal recessive nonsyndromic deafness 21
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DOID_0110479 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3.] |
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autosomal recessive nonsyndromic deafness 1B
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DOID_0110476 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12.] |
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autosomal recessive nonsyndromic deafness 2
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DOID_0110477 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13.] |
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autosomal recessive nonsyndromic deafness 18B
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DOID_0110474 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15.] |
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autosomal recessive nonsyndromic deafness 1A
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DOID_0110475 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12.] |
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obsolete immunodeficiency 130
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DOID_0061095 |
[A T cell deficiency that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21.] |
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immunodeficiency 133
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DOID_0061096 |
[A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21.] |
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immunodeficiency 132B
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DOID_0061097 |
[A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32.] |
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Carpenter syndrome 1
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DOID_0061098 |
[A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11.] |
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Carpenter syndrome
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DOID_0060234 |
[An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.] |
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Carpenter syndrome 2
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DOID_0061099 |
[A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13.] |
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severe combined immunodeficiency 124
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DOID_0061090 |
[A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35.] |
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immunodeficiency 125
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DOID_0061091 |
[A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that has_material_basis_in homozygous mutation in the FLT3LG gene on chromosome 19q13.] |
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immunodeficiency 127
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DOID_0061092 |
[A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21.] |
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immunodeficiency 128
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DOID_0061093 |
[A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21.] |
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immunodeficiency 129
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DOID_0061094 |
[A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14.] |
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costochondral joint
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UBERON_0002293 |
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