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neuronal ceroid lipofuscinosis 10
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DOID_0110725 |
[A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.] |
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jujube fruit (raw)
|
FOODON_00002487 |
|
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jujube fruit
|
FOODON_00003652 |
|
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congenital hypotrichosis with juvenile macular dystrophy
|
DOID_0110711 |
[A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1.] |
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endo-epithelium
|
UBERON_0005911 |
|
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Oguchi disease-1
|
DOID_0110712 |
[A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37.] |
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hypotrichosis 13
|
DOID_0110710 |
[A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13.] |
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transient hypogammaglobulinemia
|
DOID_625 |
|
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obsolete congenital disorder of natural immunity
|
DOID_629 |
|
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Warburg micro syndrome 4
|
DOID_0110719 |
[A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13.] |
|
Warburg micro syndrome
|
DOID_0060237 |
[A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.] |
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Warburg micro syndrome 2
|
DOID_0110717 |
[A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.] |
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Warburg micro syndrome 3
|
DOID_0110718 |
[A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12.] |
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congenital stationary night blindness autosomal dominant 3
|
DOID_0110715 |
[A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21.] |
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transient hypogammaglobulinemia of infancy
|
DOID_624 |
|
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duct of male reproductive system
|
UBERON_0005904 |
|
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Warburg micro syndrome 1
|
DOID_0110716 |
[A Warburg micro syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severely impaired intellectual development, spastic diplegia, and hypogonadism that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21.] |
|
Oguchi disease-2
|
DOID_0110713 |
[A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34.] |
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obsolete Lentivirus infectious disease
|
DOID_622 |
[A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound.] |
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congenital stationary night blindness 1G
|
DOID_0110714 |
[A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21.] |
