|
familial adult myoclonic epilepsy 4
|
DOID_0111693 |
[A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1.] |
|
familial adult myoclonic epilepsy
|
DOID_0111689 |
[An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities.] |
|
retinitis pigmentosa 58
|
DOID_0110362 |
[A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23.] |
|
familial adult myoclonic epilepsy 7
|
DOID_0111694 |
[A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1.] |
|
retinitis pigmentosa 71
|
DOID_0110363 |
[A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23.] |
|
familial adult myoclonic epilepsy 5
|
DOID_0111691 |
[A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1.] |
|
retinitis pigmentosa 39
|
DOID_0110360 |
[A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41.] |
|
familial adult myoclonic epilepsy 2
|
DOID_0111692 |
[A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2.] |
|
retinitis pigmentosa 75
|
DOID_0110361 |
[A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23.] |
|
obsolete secondary syphilitic uveitis
|
DOID_1487 |
|
|
familial adult myoclonic epilepsy 1
|
DOID_0111690 |
[A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12.] |
|
obsolete secondary syphilitic chorioretinitis
|
DOID_1486 |
|
|
cystic fibrosis
|
DOID_1485 |
[A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.] |
|
retinitis pigmentosa 26
|
DOID_0110368 |
[A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31.] |
|
Van den Ende-Gupta syndrome
|
DOID_0111699 |
[A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21.] |
|
retinitis pigmentosa 47
|
DOID_0110369 |
[A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37.] |
|
cleft palate, cardiac defects, and intellectual disability
|
DOID_0111697 |
[A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14.] |
|
retinitis pigmentosa 33
|
DOID_0110366 |
[A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11.] |
|
proprotein convertase 1/3 deficiency
|
DOID_0111698 |
[A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15.] |
|
retinitis pigmentosa 38
|
DOID_0110367 |
[A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13.] |
