|
bruxism
|
DOID_2846 |
[A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping.] |
|
obsolete residual schizophrenia chronic state with acute exacerbation
|
DOID_1511 |
|
|
obsolete melancholia
|
DOID_2848 |
|
|
retinitis pigmentosa 3
|
DOID_0110414 |
[A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.] |
|
cerebellar ataxia type 43
|
DOID_0111745 |
[An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.] |
|
Endocardial fibrosis
|
HP_0006685 |
|
|
Abnormal endocardium morphology
|
HP_0004306 |
|
|
cerebellar ataxia type 48
|
DOID_0111746 |
[An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3.] |
|
retinitis pigmentosa 2
|
DOID_0110415 |
[A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3.] |
|
cerebellar ataxia type 47
|
DOID_0111743 |
[An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2.] |
|
retinitis pigmentosa 23
|
DOID_0110412 |
[A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22.] |
|
cerebellar ataxia type 41
|
DOID_0111744 |
[An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27.] |
|
retinitis pigmentosa 6
|
DOID_0110413 |
[A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2.] |
|
retinitis pigmentosa 69
|
DOID_0110410 |
[A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11.] |
|
X-linked deafness 5
|
DOID_0111741 |
[A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1.] |
|
retinitis pigmentosa 60
|
DOID_0110411 |
[A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33.] |
|
cerebellar ataxia type 42
|
DOID_0111742 |
[An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21.] |
|
X-linked deafness 6
|
DOID_0111740 |
[An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3.] |
|
mitochondrial complex V (ATP synthase) deficiency nuclear type 6
|
DOID_0111749 |
[A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33.] |
|
retinitis pigmentosa Y-linked
|
DOID_0110418 |
[A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome.] |
