|
autosomal recessive intellectual developmental disorder 60
|
DOID_0081222 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13.] |
|
glycosylphosphatidylinositol biosynthesis defect 16
|
DOID_0081223 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23.] |
|
autosomal recessive intellectual developmental disorder 63
|
DOID_0081224 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32.] |
|
autosomal recessive intellectual developmental disorder 64
|
DOID_0081225 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24.] |
|
spermatogenic failure 73
|
DOID_0070572 |
[A spermatogenic failure characterized by nonobstructive azoospermia due to meiotic arrest that has_material_basis_in homozygous or compound heterozygous mutation in the MOV10L1 gene on chromosome 22q13.33.] |
|
spermatogenic failure 74
|
DOID_0070573 |
[A spermatogenic failure characterized by nonobstructive azoospermia due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.33.] |
|
spermatogenic failure 71
|
DOID_0070570 |
[A spermatogenic failure characterized by nonobstructive azoospermia that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12.] |
|
spermatogenic failure 72
|
DOID_0070571 |
[A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in lack of sperm motility, that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.] |
|
spermatogenic failure 79
|
DOID_0070578 |
[A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23.] |
|
spermatogenic failure 80
|
DOID_0070579 |
[A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in reduced or absent progressive sperm motility, that has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.3.] |
|
spermatogenic failure 77
|
DOID_0070576 |
[A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23.] |
|
spermatogenic failure 78
|
DOID_0070577 |
[A spermatogenic failure characterized by sperm with abnormal acrosome structure due to a manchette assembly defect that has_material_basis_in homozygous mutation in the IQCN gene on chromosome 19p13.11.] |
|
spermatogenic failure 75
|
DOID_0070574 |
[A spermatogenic failure characterized by nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the SHOC1 gene on chromosome 9q31.3.] |
|
spermatogenic failure 76
|
DOID_0070575 |
[A spermatogenic failure characterized by oligoasthenoteratozoospermia that has_material_basis_in homozygous mutation in the CCDC34 gene on chromosome 11p14.1.] |
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Mitral stenosis
|
HP_0001718 |
|
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Abnormal mitral valve physiology
|
HP_0031481 |
|
|
autosomal recessive intellectual developmental disorder 58
|
DOID_0081220 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12.] |
|
autosomal recessive intellectual developmental disorder 59
|
DOID_0081221 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21.] |
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Rowavirales
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NCBITaxon_2732559 |
|
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Pharingeaviricetes
|
NCBITaxon_3412727 |
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