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susceptibility to celiac disease 6
|
MIM_611598 |
|
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spermatogenic failure 91
|
DOID_0070590 |
[A spermatogenic failure characterized by teratozoospermia, consisting of a misshapen rounded sperm head and detachment of the acrosome, and sperm that fail to attach to the zona pellucida that has_material_basis_in homozygous or compound heterozygous mutation in the CCIN gene on chromosome 9p13.3.] |
|
spermatogenic failure 92
|
DOID_0070591 |
[A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous mutation in the LRRC23 gene on chromosome 12p13.31.] |
|
X-linked spermatogenic failure 7
|
DOID_0070598 |
[A spermatogenic failure characterized by sperm with insufficient individualization, excessive residual cytoplasm, acrosome defects, and abnormalities of the head and flagella, resulting in significantly reduced sperm concentration and progressive motility, that has_material_basis_in hemizygous mutation in the CT55 gene on chromosome Xq26.3.] |
|
X-linked spermatogenic failure 8
|
DOID_0070599 |
[A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that has_material_basis_in hemizygous mutation in the CYLC1 gene on chromosome Xq21.1.] |
|
X-linked spermatogenic failure 5
|
DOID_0070596 |
[A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the SSX1 gene on chromosome Xp11.23.] |
|
X-linked spermatogenic failure 6
|
DOID_0070597 |
[A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the USP26 gene on chromosome Xq26.2.] |
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peroxisome biogenesis disorder 1B
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DOID_0081240 |
[A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.] |
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peroxisome biogenesis disorder 3B
|
DOID_0081241 |
[A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17.] |
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autoimmune interstitial lung, joint, and kidney disease
|
DOID_0081242 |
[An autoimmune disease that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23.] |
|
rhizomelic chondrodysplasia punctate type 4
|
DOID_0081243 |
[A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.] |
|
rhizomelic chondrodysplasia punctata
|
DOID_2580 |
[A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.] |
|
autosomal recessive intellectual developmental disorder 52
|
DOID_0081215 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11.] |
|
autosomal recessive intellectual developmental disorder 54
|
DOID_0081216 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26.] |
|
autosomal recessive intellectual developmental disorder 56
|
DOID_0081217 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31.] |
|
autosomal recessive intellectual developmental disorder 74
|
DOID_0081218 |
[An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported.] |
|
autosomal recessive intellectual developmental disorder 47
|
DOID_0081211 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43.] |
|
autosomal recessive intellectual developmental disorder 48
|
DOID_0081212 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13.] |
|
autosomal recessive intellectual developmental disorder 50
|
DOID_0081213 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24.] |
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susceptibility to otitis media
|
MIM_166760 |
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