|
alveolus of lung
|
UBERON_0002299 |
|
|
alveolus
|
UBERON_0003215 |
|
|
obsolete Elizabethkingia meningoseptica meningitis
|
DOID_0050391 |
|
|
obsolete Capnocytophaga canimorsus endocarditis
|
DOID_0050390 |
|
|
autosomal dominant intellectual developmental disorder 67
|
DOID_0061040 |
[An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33.] |
|
autosomal dominant intellectual developmental disorder 68
|
DOID_0061041 |
[An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly, poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13.] |
|
autosomal dominant intellectual developmental disorder 69
|
DOID_0061042 |
[An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11.] |
|
autosomal dominant intellectual developmental disorder 70
|
DOID_0061043 |
[An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21.] |
|
autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities
|
DOID_0061044 |
[An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21.] |
|
autosomal dominant intellectual developmental disorder 72
|
DOID_0061045 |
[An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13.] |
|
autosomal dominant intellectual developmental disorder 73
|
DOID_0061046 |
[An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13.] |
|
autosomal dominant intellectual developmental disorder 74
|
DOID_0061047 |
[An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11.] |
|
glandular tularemia
|
DOID_0050382 |
[A tularemia that results_in swelling of regional lymph glands.] |
|
autosomal recessive nonsyndromic deafness 36
|
DOID_0110494 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36.] |
|
obsolete Chlamydia trachomatis epididymitis
|
DOID_0050381 |
|
|
autosomal recessive nonsyndromic deafness 37
|
DOID_0110495 |
[An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14.] |
|
obsolete single episode moderate major depression
|
DOID_1599 |
|
|
obsolete commensal Helicobacteraceae infectious disease
|
DOID_0050384 |
|
|
autosomal recessive nonsyndromic deafness 33
|
DOID_0110492 |
[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1.] |
|
typhoidal tularemia
|
DOID_0050383 |
[A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss.] |
