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autosomal recessive nonsyndromic deafness 39
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DOID_0110497 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21.] |
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autosomal dominant intellectual developmental disorder 57
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DOID_0061031 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23.] |
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autosomal dominant intellectual developmental disorder 58
|
DOID_0061032 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34.] |
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autosomal dominant intellectual developmental disorder 59
|
DOID_0061033 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22.] |
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autosomal dominant intellectual developmental disorder 61
|
DOID_0061034 |
[An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23.] |
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autosomal dominant intellectual developmental disorder 62
|
DOID_0061035 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13.] |
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autosomal dominant intellectual developmental disorder 63 with macrocephaly
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DOID_0061036 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15.] |
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obsolete Capnocytophaga canimorsus meningitis
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DOID_0050389 |
|
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obsolete calculus of gallbladder and bile duct with acute and chronic cholecystitis
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DOID_1568 |
|
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dermatomycosis
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DOID_1563 |
[A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes.] |
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chromoblastomycosis
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DOID_1562 |
[A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.] |
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immunodeficiency 92
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DOID_0061062 |
[A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16.] |
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immunodeficiency 93
|
DOID_0061063 |
[A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31.] |
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immunodeficiency 94
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DOID_0061064 |
[A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11.] |
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immunodeficiency 95
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DOID_0061065 |
[A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24.] |
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immunodeficiency 96
|
DOID_0061066 |
[A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13.] |
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immunodeficiency 97
|
DOID_0061067 |
[A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22.] |
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obsolete primary Klebsiella infectious disease
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DOID_2890 |
|
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immunodeficiency 98
|
DOID_0061068 |
[A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22.] |
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immunodeficiency 99
|
DOID_0061069 |
[A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11.] |
