Heterochromia iridis

Symptom Information:

Symptom ID: HPO:0001100
Synonyms:
Heterochromia irides [HPO:0001100]
Heterochromic iris (finding) [Orphanet:4200]
heterochromia [HPO:0001100]
Heterochromia iridis [Orphanet:4200]
Heterochromia irides [OMIM:Heterochromia irides]
Heterochromia iridis [OMIM:Heterochromia iridis]
Heterochromia/mixed colouring of iris [Orphanet:4200]
Heterochromia iridis [MedDRA:10066799]
Sectoral heterochromia iridis [MedDRA:10066799]
Heterochromia iridis (complete or partial) [OMIM:Heterochromia iridis (complete or partial)]
Quality:
Cross references:
HPO:0007818 "Central heterochromia" [Orphanet:4200]
Orphanet:4200 "Heterochromia/mixed colouring of iris" [Orphanet:4200]
OMIM: "Heterochromia irides" [OMIM:Heterochromia irides]
OMIM: "Heterochromia iridis" [OMIM:Heterochromia iridis]
OMIM: "Heterochromia iridis (complete or partial)" [OMIM:Heterochromia iridis (complete or partial)]
UMLS:C0423318 "heterochromia" [HPO:0001100]
UMLS:C0423318 "Heterochromia iridis" [Orphanet:4200]
Is a (Direct Parents):
MedDRA Iris and choroid disorders congenital
Orphanet Abnormality of the eye
HPO         Abnormal iris pigmentation
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 anterior segment of the globe(HPO:0004328)
                   Abnormality of the iris(HPO:0000525)
                      Abnormal iris pigmentation(HPO:0008034)
                         Heterochromia iridis(HPO:0001100)
                Abnormality of the uvea(HPO:0000553)
                   Abnormality of the iris(HPO:0000525)
                      Abnormal iris pigmentation(HPO:0008034)
                         Heterochromia iridis(HPO:0001100)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Iris and choroid disorders congenital(MedDRA:10022946)
          Heterochromia iridis(HPO:0001100)
Database Frequency: 31 / 7739
Resource:

All diseases associated with this symptom:

Albinism-deafness syndrome (Orphanet:998)
Baraitser-Winter syndrome (Orphanet:2995)
Congenital Horner syndrome (Orphanet:91413)
Duane retraction syndrome (Orphanet:233)
Familial dysautonomia (Orphanet:1764)
HETEROCHROMIA IRIDIS (OMIM:142500)
Ito hypomelanosis (Orphanet:435)
Neurofibromatosis type 1 (Orphanet:636)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Night blindness - skeletal anomalies - dysmorphism (Orphanet:1390)
Otodental syndrome (Orphanet:2791)
Piebald trait - neurologic defects (Orphanet:2885)
Piebaldism (Orphanet:2884)
Progressive hemifacial atrophy (Orphanet:1214)
Proteus syndrome (Orphanet:744)
Proteus-like syndrome (Orphanet:2969)
Sensorineural hearing loss - early graying - essential tremor (Orphanet:66633)
Sturge-Weber syndrome (Orphanet:3205)
Trichomegaly - retina pigmentary degeneration - dwarfism (Orphanet:3363)
WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
WAARDENBURG SYNDROME, TYPE 2B (OMIM:600193)
WAARDENBURG SYNDROME, TYPE 2D (OMIM:608890)
WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Waardenburg syndrome (Orphanet:3440)
Waardenburg syndrome type 1 (Orphanet:894)
Waardenburg syndrome type 2 (Orphanet:895)
Waardenburg syndrome type 3 (Orphanet:896)
Waardenburg-Shah syndrome (Orphanet:897)