|
autosomal dominant intellectual developmental disorder 40
|
DOID_0070070 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34.] |
|
schizophrenia 1
|
DOID_0070077 |
[A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35.] |
|
schizophrenia 2
|
DOID_0070078 |
[A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21.] |
|
obsolete Kleefstra Syndrome
|
DOID_0070075 |
[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the EHMT1 gene on chromosome 9q34.3.] |
|
obsolete Koolen-De Vries syndrome
|
DOID_0070076 |
[An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the KANSL1 gene on chromosome 17q21.31.] |
|
autosomal dominant intellectual developmental disorder 43
|
DOID_0070073 |
[An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2.] |
|
autosomal dominant intellectual developmental disorder 44
|
DOID_0070074 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2.] |
|
autosomal dominant intellectual developmental disorder 41
|
DOID_0070071 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32.] |
|
autosomal dominant intellectual developmental disorder 42
|
DOID_0070072 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33.] |
|
schizophrenia 3
|
DOID_0070079 |
[A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23.] |
|
susceptibility to hirschsprung disease 8
|
MIM_608462 |
|
|
Trombiculoidea
|
NCBITaxon_92088 |
|
|
Parasitengona
|
NCBITaxon_83141 |
|
|
Coffin-Siris syndrome 2
|
DOID_0070044 |
[A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11.] |
|
Coffin-Siris syndrome
|
DOID_1925 |
[An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.] |
|
Coffin-Siris syndrome 3
|
DOID_0070045 |
[A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.] |
|
Coffin-Siris syndrome 1
|
DOID_0070042 |
[A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.] |
|
autosomal dominant intellectual developmental disorder 13
|
DOID_0070043 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31.] |
|
autosomal dominant intellectual developmental disorder 10
|
DOID_0070040 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3.] |
|
autosomal dominant intellectual developmental disorder 11
|
DOID_0070041 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23.] |
