Optic disc pallor

Symptom Information:

Symptom ID: HPO:0000543
Synonyms:
DISC PALLOR [HPO:0000543]
OPTIC DISK PALLOR [HPO:0000543]
Pale optic disc [HPO:0000543]
PALE OPTIC DISCS [HPO:0000543]
Pale optic disk [HPO:0000543]
Disc pallor [OMIM:Disc pallor]
Optic disc pallor [OMIM:Optic disc pallor]
Pale optic disc [OMIM:Pale optic disc]
Pale optic discs [OMIM:Pale optic discs]
Optic disc pallor (in older patients) [OMIM:Optic disc pallor (in older patients)]
Optic disc pallor (in some patients) [OMIM:Optic disc pallor (in some patients)]
Optic disc pallor (less common) [OMIM:Optic disc pallor (less common)]
Pale optic discs (1/4 patients) [OMIM:Pale optic discs (1/4 patients)]
Pale optic disks [OMIM:Pale optic disks]
Quality:
Cross references:
OMIM: "Disc pallor" [OMIM:Disc pallor]
OMIM: "Optic disc pallor" [OMIM:Optic disc pallor]
OMIM: "Pale optic disc" [OMIM:Pale optic disc]
OMIM: "Pale optic discs" [OMIM:Pale optic discs]
OMIM: "Optic disc pallor (in older patients)" [OMIM:Optic disc pallor (in older patients)]
OMIM: "Optic disc pallor (in some patients)" [OMIM:Optic disc pallor (in some patients)]
OMIM: "Optic disc pallor (less common)" [OMIM:Optic disc pallor (less common)]
OMIM: "Pale optic discs (1/4 patients)" [OMIM:Pale optic discs (1/4 patients)]
OMIM: "Pale optic disks" [OMIM:Pale optic disks]
Is a (Direct Parents):
HPO         Abnormality of the optic nerve
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of the posterior segment of the globe(HPO:0004329)
                   Abnormality of the fundus(HPO:0001098)
                      Abnormality of the optic nerve(HPO:0000587)
                         Optic disc pallor(HPO:0000543)
MedDRA:
Database Frequency: 67 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES (OMIM:300887)
Alström syndrome (Orphanet:64)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive optic atrophy, OPA7 type (Orphanet:227976)
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
COMPLEX I, SUBUNIT ND2 (OMIM:516001)
COMPLEX I, SUBUNIT ND5 (OMIM:516005)
COMPLEX I, SUBUNIT ND6 (OMIM:516006)
COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I (OMIM:516030)
CONE-ROD DYSTROPHY 16 (OMIM:614500)
CONE-ROD DYSTROPHY 17 (OMIM:615163)
CYTOCHROME b OF COMPLEX III (OMIM:516020)
CYTOCHROME c OXIDASE III (OMIM:516050)
Cerebrotendinous xanthomatosis (Orphanet:909)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Friedreich ataxia 1 (OMIM:229300)
Hereditary motor and sensory neuropathy type 6 (Orphanet:90120)
Hyperimmunoglobulinemia D with periodic fever (Orphanet:343)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
Jalili syndrome (Orphanet:1873)
Leber congenital amaurosis 14 (OMIM:613341)
Leber congenital amaurosis 15 (OMIM:613843)
Leber congenital amaurosis 4 (OMIM:604393)
Leber congenital amaurosis 9 (OMIM:608553)
Leber hereditary optic neuropathy (Orphanet:104)
Leber plus disease (Orphanet:99718)
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
PERIPHERAL CONE DYSTROPHY (OMIM:609021)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELLABNORMALITIES (OMIM:616079)
RETINITIS PIGMENTOSA 19 (OMIM:601718)
RETINITIS PIGMENTOSA 26 (OMIM:608380)
RETINITIS PIGMENTOSA 28 (OMIM:606068)
RETINITIS PIGMENTOSA 33 (OMIM:610359)
RETINITIS PIGMENTOSA 36 (OMIM:610599)
RETINITIS PIGMENTOSA 38 (OMIM:613862)
RETINITIS PIGMENTOSA 43 (OMIM:613810)
RETINITIS PIGMENTOSA 46 (OMIM:612572)
RETINITIS PIGMENTOSA 50 (OMIM:613194)
RETINITIS PIGMENTOSA 57 (OMIM:613582)
RETINITIS PIGMENTOSA 58 (OMIM:613617)
RETINITIS PIGMENTOSA 62 (OMIM:614181)
RETINITIS PIGMENTOSA 63 (OMIM:614494)
RETINITIS PIGMENTOSA 66 (OMIM:615233)
RETINITIS PIGMENTOSA 70 (OMIM:615922)
RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Ramon syndrome (Orphanet:3019)
Retinitis pigmentosa 10 (OMIM:180105)
Retinohepatoendocrinologic syndrome (Orphanet:3087)
SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA (OMIM:182830)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 (OMIM:616204)
Spastic paraplegia-optic atrophy-neuropathy syndrome (Orphanet:320406)
Spinocerebellar ataxia type 1 (Orphanet:98755)
Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448)
Triose phosphate-isomerase deficiency (Orphanet:868)
USHER SYNDROME, TYPE IIIB (OMIM:614504)
Wolfram syndrome 1 (OMIM:222300)
Wolfram-like syndrome (ORPHA:411590)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked spinocerebellar ataxia type 3 (Orphanet:85297)
Zellweger syndrome (Orphanet:912)