Abnormality of the pupil

Symptom Information:

Symptom ID: HPO:0000615
Pupillary abnormalities [HPO:0000615]
Pupillary anomaly [Orphanet:4120]
Pupil Malformations [Orphanet:4120]
Pupillary anomalies/mydriasis/myosis/tonic pupil [Orphanet:4120]
Pupillary abnormalities (M)(reported in 1 family) [OMIM:Pupillary abnormalities (M)(reported in 1 family)]
Cross references:
Orphanet:4120 "Pupillary anomalies/mydriasis/myosis/tonic pupil" [Orphanet:4120]
OMIM: "Pupillary abnormalities (M)(reported in 1 family)" [OMIM:Pupillary abnormalities (M)(reported in 1 family)]
UMLS:C0034123 "Pupil Malformations" [Orphanet:4120]
Is a (Direct Parents):
HPO         Abnormality of the iris
Orphanet Abnormality of the eye
Is a (Whole tree): HPO:
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of the anterior segment of the globe(HPO:0004328)
                   Abnormality of the iris(HPO:0000525)
                      Abnormality of the pupil(HPO:0000615)
                Abnormality of the uvea(HPO:0000553)
                   Abnormality of the iris(HPO:0000525)
                      Abnormality of the pupil(HPO:0000615)
Database Frequency: 39 / 7739

All diseases associated with this symptom:

Alagille syndrome (Orphanet:52)
Aniridia - ptosis - intellectual deficit - familial obesity (Orphanet:1067)
Autosomal dominant cerebellar ataxia (Orphanet:99)
Botulism (Orphanet:1267)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Duane retraction syndrome (Orphanet:233)
Ectopia lentis - chorioretinal dystrophy - myopia (Orphanet:1884)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Familial dysautonomia (Orphanet:1764)
Foodborne botulism (Orphanet:228371)
HEC syndrome (Orphanet:2119)
Hirschsprung disease - ganglioneuroblastoma (Orphanet:2151)
Iatrogenic botulism (Orphanet:254509)
Infant botulism (Orphanet:178478)
Inhalational botulism (Orphanet:254504)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intestinal botulism (Orphanet:178481)
Isolated ectopia lentis (Orphanet:1885)
Microcornea - corectopia - macular hypoplasia (Orphanet:2535)
Norrie disease (Orphanet:649)
Ocular albinism (Orphanet:284804)
Oculocerebrorenal syndrome (Orphanet:534)
Orofaciodigital syndrome type 3 (Orphanet:2752)
Osteoporosis - pseudoglioma (Orphanet:2788)
Pelvis-shoulder dysplasia (Orphanet:2839)
Proteus-like syndrome (Orphanet:2969)
Ptosis - strabismus - ectopic pupils (Orphanet:2999)
Refsum disease (Orphanet:773)
SHORT syndrome (Orphanet:3163)
Spastic ataxia with congenital miosis (Orphanet:1182)
Stormorken-Sjaastad-Langslet syndrome (Orphanet:3204)
Toxin-mediated infectious botulism (Orphanet:230800)
Triopia (Orphanet:3374)
Trisomy 9p (Orphanet:236)
Tubular aggregate myopathy (Orphanet:2593)
Woolly hair (Orphanet:170)
Wound botulism (Orphanet:178475)
X-linked corneal dermoid (Orphanet:1661)
X-linked recessive ocular albinism (Orphanet:54)