|
obsolete primary Legionellaceae infectious disease
|
DOID_0050319 |
|
|
obsolete breast soft tissue tumor
|
DOID_1624 |
|
|
obsolete primary Burkholderiaceae infectious disease
|
DOID_0050318 |
|
|
obsolete breast papillomatosis
|
DOID_1634 |
|
|
benign breast phyllodes tumor
|
DOID_1631 |
[A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast.] |
|
obsolete Deltavirus infectious disease
|
DOID_0050300 |
[A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus.] |
|
autosomal recessive nonsyndromic deafness 9
|
DOID_0110535 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23.] |
|
trichothiodystrophy
|
DOID_0111866 |
[A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections.] |
|
autosomal recessive nonsyndromic deafness 91
|
DOID_0110536 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25.] |
|
autosomal recessive congenital bilateral absence of vas deferens
|
DOID_0111864 |
[A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2.] |
|
congenital bilateral absence of vas deferens
|
DOID_0111862 |
[A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility.] |
|
autosomal recessive nonsyndromic deafness 88
|
DOID_0110533 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11.] |
|
MEND syndrome
|
DOID_0111865 |
[A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23.] |
|
autosomal recessive nonsyndromic deafness 89
|
DOID_0110534 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23.] |
|
autosomal recessive nonsyndromic deafness 85
|
DOID_0110531 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2.] |
|
autosomal recessive nonsyndromic deafness 86
|
DOID_0110532 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13.] |
|
X-linked congenital bilateral absence of vas deferens
|
DOID_0111863 |
[A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13.] |
|
AMME complex
|
DOID_0111860 |
[A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3.] |
|
autosomal recessive nonsyndromic deafness 84B
|
DOID_0110530 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21.] |
|
Meester-Loeys syndrome
|
DOID_0111861 |
[A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28.] |
