Optic nerve hypoplasia

Symptom Information:

Symptom ID: HPO:0000609
Synonyms:
Hypoplastic optic nerves [HPO:0000609]
Hypoplastic optic nerves [OMIM:Hypoplastic optic nerves]
Optic nerve hypoplasia [OMIM:Optic nerve hypoplasia]
Optic nerve hypoplasia (1 patient) [OMIM:Optic nerve hypoplasia (1 patient)]
Optic nerve hypoplasia (WWS) [OMIM:Optic nerve hypoplasia (WWS)]
Optic nerve hypoplasia (in 1 patient) [OMIM:Optic nerve hypoplasia (in 1 patient)]
Optic nerve hypoplasia (in some patients) [OMIM:Optic nerve hypoplasia (in some patients)]
Optic nerve hypoplasia (less common) [OMIM:Optic nerve hypoplasia (less common)]
Optic nerve hypoplasia [MedDRA:10062942]
Quality:
Cross references:
OMIM: "Hypoplastic optic nerves" [OMIM:Hypoplastic optic nerves]
OMIM: "Optic nerve hypoplasia" [OMIM:Optic nerve hypoplasia]
OMIM: "Optic nerve hypoplasia (1 patient)" [OMIM:Optic nerve hypoplasia (1 patient)]
OMIM: "Optic nerve hypoplasia (WWS)" [OMIM:Optic nerve hypoplasia (WWS)]
OMIM: "Optic nerve hypoplasia (in 1 patient)" [OMIM:Optic nerve hypoplasia (in 1 patient)]
OMIM: "Optic nerve hypoplasia (in some patients)" [OMIM:Optic nerve hypoplasia (in some patients)]
OMIM: "Optic nerve hypoplasia (less common)" [OMIM:Optic nerve hypoplasia (less common)]
Is a (Direct Parents):
MedDRA Optic nerve disorders NEC
HPO         Aplasia/Hypoplasia of the optic nerve
HPO         Aplasia/Hypoplasia involving the central nervous system
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)
                         Aplasia/Hypoplasia of the optic nerve(HPO:0008058)
                            Optic nerve hypoplasia(HPO:0000609)
                      Aplasia/Hypoplasia affecting the fundus(HPO:0008057)
                         Aplasia/Hypoplasia of the optic nerve(HPO:0008058)
                            Optic nerve hypoplasia(HPO:0000609)
                Aplasia/Hypoplasia affecting the eye(HPO:0008056)
                   Aplasia/Hypoplasia affecting the fundus(HPO:0008057)
                      Aplasia/Hypoplasia of the optic nerve(HPO:0008058)
                         Optic nerve hypoplasia(HPO:0000609)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Cranial nerve disorders (excl neoplasms)(MedDRA:10011305)
       Optic nerve disorders NEC(MedDRA:10030933)
          Optic nerve hypoplasia(HPO:0000609)
Database Frequency: 26 / 7739
Resource:

All diseases associated with this symptom:

2p15p16.1 microdeletion syndrome (Orphanet:261349)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Autosomal recessive spastic paraplegia type 54 (Orphanet:320380)
CARDIOFACIOCUTANEOUS SYNDROME 4 (OMIM:615280)
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Craniotelencephalic dysplasia (Orphanet:1528)
GLUTEAL MUSCLES, ABSENCE OF (OMIM:231970)
HOLOPROSENCEPHALY 9 (OMIM:610829)
Hyperlysinemia, type I (OMIM:238700)
Isolated aniridia (Orphanet:250923)
Isolated optic nerve hypoplasia (Orphanet:137902)
MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES (OMIM:607597)
MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11 (OMIM:615181)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
Muscle-eye-brain disease (Orphanet:588)
PHACE syndrome (Orphanet:42775)
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis (Orphanet:65288)
Polymicrogyria with optic nerve hypoplasia (Orphanet:250972)
Septo-optic dysplasia (Orphanet:3157)
Timothy syndrome (Orphanet:65283)
UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE5 (OMIM:615133)
Wolfram syndrome 1 (OMIM:222300)
X-linked cone dysfunction syndrome with myopia (Orphanet:90001)
X-linked intellectual deficit, Najm type (Orphanet:163937)