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familial cold autoinflammatory syndrome 3
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DOID_0090064 |
[A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q.] |
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familial cold autoinflammatory syndrome 4
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DOID_0090065 |
[A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22.] |
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familial cold autoinflammatory syndrome 1
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DOID_0090062 |
[A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44.] |
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familial cold autoinflammatory syndrome 2
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DOID_0090063 |
[A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13.] |
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obsolete vessel leiomyosarcoma
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DOID_5294 |
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giant axonal neuropathy 1
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DOID_0090068 |
[An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23.] |
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axonal neuropathy
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DOID_7319 |
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extrahepatic bile duct leiomyosarcoma
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DOID_5293 |
[A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver.] |
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giant axonal neuropathy 2
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DOID_0090069 |
[An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23.] |
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liver leiomyosarcoma
|
DOID_5296 |
[A leiomyosarcoma and sarcoma of liver that is located_in the liver.] |
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Fanconi-like syndrome
|
DOID_0090066 |
[A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.] |
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Fuhrmann syndrome
|
DOID_0090067 |
[A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25.] |
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rectum leiomyosarcoma
|
DOID_5297 |
[A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum.] |
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endometrial clear cell adenocarcinoma
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DOID_5299 |
[An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm.] |
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St. Louis encephalitis virus
|
NCBITaxon_11080 |
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Orthoflavivirus louisense
|
NCBITaxon_3052468 |
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West Nile virus
|
NCBITaxon_11082 |
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Orthoflavivirus nilense
|
NCBITaxon_3048448 |
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dystonia 27
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DOID_0090050 |
[A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37.] |
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segmental dystonia
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DOID_0050838 |
[A dystonia that affects two or more adjacent parts of the body.] |
