|
oculocutaneous albinism type IV
|
DOID_0070098 |
[An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2.] |
|
oculocutaneous albinism type IB
|
DOID_0070095 |
[An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.] |
|
digenic disease
|
DOID_0080578 |
[A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes.] |
|
oculocutaneous albinism type II
|
DOID_0070096 |
[An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13.] |
|
schizophrenia 18
|
DOID_0070093 |
[A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2.] |
|
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.] |
