|
obsolete Noonan syndrome 4
|
DOID_0070104 |
[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS1 gene on chromosome 2p22.1.] |
|
obsolete Noonan syndrome 1
|
DOID_0070101 |
[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the PTPN11 gene on chromosome 12q24.13.] |
|
obsolete Noonan syndrome 2
|
DOID_0070102 |
[A Noonan syndrome that has_material_basis_in an autosomal recessive mutation.] |
|
Vascular dilatation
|
HP_0002617 |
|
|
Abnormal blood vessel morphology
|
HP_0033353 |
|
|
obsolete Noonan syndrome 9
|
DOID_0070109 |
[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS2 gene on chromosome 14q21.3.] |
|
obsolete Noonan syndrome 10
|
DOID_0070110 |
[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the LZTR1 gene on chromosome 22q11.21.] |
|
Niemann-Pick disease type A
|
DOID_0070111 |
[A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.] |
|
Niemann-Pick disease
|
DOID_14504 |
[A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.] |
|
Meckel syndrome 4
|
DOID_0070118 |
[A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.] |
|
Meckel syndrome 5
|
DOID_0070119 |
[A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2.] |
|
Meckel syndrome 2
|
DOID_0070116 |
[A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2.] |
|
Meckel syndrome 3
|
DOID_0070117 |
[A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1.] |
|
Niemann-Pick disease type C2
|
DOID_0070114 |
[A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.] |
|
Meckel syndrome 1
|
DOID_0070115 |
[A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22.] |
|
Niemann-Pick disease type B
|
DOID_0070112 |
[A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.] |
|
Niemann-Pick disease type C1
|
DOID_0070113 |
[A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.] |
|
immunodeficiency with hyper IgM type 5
|
DOID_0060759 |
[A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.] |
|
hyper IgM syndrome
|
DOID_0080544 |
[A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM.] |
|
susceptibility to autoimmune disease 3
|
MIM_608392 |
|
