|
severe congenital neutropenia 2
|
DOID_0112131 |
[An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1.] |
|
autosomal dominant severe congenital neutropenia
|
DOID_0112130 |
[A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene.] |
|
bladder leiomyoma
|
DOID_13109 |
[A bladder benign neoplasm that derives_from smooth muscle cells.] |
|
nuclear type mitochondrial complex I deficiency 35
|
DOID_0112139 |
[A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3.] |
|
primary coenzyme Q10 deficiency 9
|
DOID_0112138 |
[A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31.] |
|
combined oxidative phosphorylation deficiency 51
|
DOID_0112137 |
[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2.] |
|
severe congenital neutropenia 4
|
DOID_0112136 |
[A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31.] |
|
severe congenital neutropenia 8
|
DOID_0112135 |
[An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2.] |
|
sclerosing keratitis
|
DOID_14444 |
[A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection.] |
|
mechanical entropion
|
DOID_13112 |
|
|
autosomal dominant nonsyndromic deafness 76
|
DOID_0112167 |
[An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23.] |
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Abnormal granulocyte count
|
HP_0032309 |
|
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chronic closed-angle glaucoma
|
DOID_14445 |
[A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.] |
|
primary angle-closure glaucoma
|
DOID_1405 |
[An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.] |
|
autosomal dominant nonsyndromic deafness 75
|
DOID_0112166 |
[An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1.] |
|
bladder squamous papilloma
|
DOID_13110 |
|
|
autosomal dominant nonsyndromic deafness 74
|
DOID_0112165 |
[An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3.] |
|
spermatogenic failure 46
|
DOID_0112164 |
[A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2.] |
|
46,XY complete gonadal dysgenesis
|
DOID_14448 |
[A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.] |
|
spermatogenic failure 45
|
DOID_0112163 |
[A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1.] |
