|
autosomal recessive nonsyndromic deafness 35
|
DOID_0110493 |
[An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24.] |
|
obsolete single episode mild major depression
|
DOID_1597 |
|
|
obsolete Acinetobacter baumannii pneumonia
|
DOID_0050386 |
|
|
autosomal recessive nonsyndromic deafness 31
|
DOID_0110490 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32.] |
|
depressive disorder
|
DOID_1596 |
[A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.] |
|
obsolete commensal Helicobacter infectious disease
|
DOID_0050385 |
|
|
autosomal recessive nonsyndromic deafness 32
|
DOID_0110491 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2.] |
|
major depressive disorder
|
DOID_1470 |
[A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.] |
|
obsolete Bacteroides fragilis peritonitis
|
DOID_0050388 |
|
|
nonpapillary renal cell carcinoma
|
DOID_0050387 |
[A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences.] |
|
obsolete metastasis to the peritoneum
|
DOID_1593 |
|
|
autosomal dominant intellectual developmental disorder 64
|
DOID_0061037 |
[An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14.] |
|
obsolete secondary malignant neoplasm of retroperitoneum and peritoneum
|
DOID_1592 |
|
|
autosomal dominant intellectual developmental disorder 65
|
DOID_0061038 |
[An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13.] |
|
renovascular hypertension
|
DOID_1591 |
|
|
autosomal dominant intellectual developmental disorder 66
|
DOID_0061039 |
[An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21.] |
|
autosomal recessive nonsyndromic deafness 4
|
DOID_0110498 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22.] |
|
autosomal recessive nonsyndromic deafness 40
|
DOID_0110499 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1.] |
|
obsolete Campylobacter coli infectious disease
|
DOID_0050380 |
|
|
autosomal recessive nonsyndromic deafness 38
|
DOID_0110496 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27.] |
