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autosomal recessive intellectual developmental disorder 51
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DOID_0081214 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22.] |
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susceptibility to idiopathic generalized epilepsy 8
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MIM_612899 |
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glucose transporter type 1 deficiency syndrome 1
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DOID_0070561 |
[A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders.] |
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glucose transporter type 1 deficiency syndrome
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DOID_0070560 |
[A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 on chromosome 1p34.2.] |
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Fanconi-Bickel syndrome
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DOID_0070562 |
[A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2.] |
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autosomal recessive intellectual developmental disorder 57
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DOID_0081219 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13.] |
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spermatogenic failure 70
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DOID_0070569 |
[A spermatogenic failure characterized by azoospermia or sperm immotility and necrozoospermia that has_material_basis_in homozygous mutation in the PDHA2 gene on chromosome 4q22.3.] |
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spermatogenic failure 68
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DOID_0070567 |
[A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the C2CD6 gene on chromosome 2q33.1.] |
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spermatogenic failure 69
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DOID_0070568 |
[A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the GGN on chromosome 19q13.2.] |
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spermatogenic failure 66
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DOID_0070565 |
[A spermatogenic failure characterized by total globozoospermia that has_material_basis_in homozygous mutation in the ZPBP gene on chromosome 7p12.2.] |
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spermatogenic failure 67
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DOID_0070566 |
[A spermatogenic failure characterized by globozoospermia that has_material_basis_in homozygous mutation in the CCDC62 gene on chromosome 12q24.31.] |
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glucose-galactose malabsorption
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DOID_0070563 |
[A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3.] |
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dialysis disequilibrium syndrome
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DOID_0070564 |
[A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma.] |
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autosomal recessive intellectual developmental disorder 46
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DOID_0081210 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33.] |
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cell cluster organ
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UBERON_0010001 |
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cell cluster
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UBERON_0034922 |
|
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autosomal recessive intellectual developmental disorder 65
|
DOID_0081226 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32.] |
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autosomal recessive intellectual developmental disorder 66
|
DOID_0081227 |
[An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13.] |
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autosomal recessive intellectual developmental disorder 67
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DOID_0081228 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15.] |
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autosomal recessive intellectual developmental disorder 68
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DOID_0081229 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13.] |
