|
oculocutaneous albinism type IA
|
DOID_0070094 |
[An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.] |
|
autosomal dominant intellectual developmental disorder 36
|
DOID_0070066 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41.] |
|
autosomal dominant intellectual developmental disorder
|
DOID_0060307 |
[A intellectual disability characterized by an autosomal dominant inheritance pattern.] |
|
White-Sutton syndrome
|
DOID_0070067 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3.] |
|
autosomal dominant intellectual developmental disorder 34
|
DOID_0070064 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3.] |
|
autosomal dominant intellectual developmental disorder 35
|
DOID_0070065 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.] |
|
Arboleda-Tham syndrome
|
DOID_0070062 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21.] |
|
Abnormality of the lymphatic system
|
HP_0100763 |
|
|
Abnormality of the immune system
|
HP_0002715 |
|
|
autosomal dominant intellectual developmental disorder 33
|
DOID_0070063 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2.] |
|
autosomal dominant intellectual developmental disorder 30
|
DOID_0070060 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3.] |
|
Abnormality of the tonsils
|
HP_0100765 |
|
|
autosomal dominant intellectual developmental disorder 31
|
DOID_0070061 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3.] |
|
autosomal dominant intellectual developmental disorder 38
|
DOID_0070068 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33.] |
|
autosomal dominant intellectual developmental disorder 39
|
DOID_0070069 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3.] |
|
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.] |
