Iris coloboma

Symptom Information:

Symptom ID: HPO:0000612
Synonyms:
Coloboma of iris [HPO:0000612]
Coloboma of the iris [HPO:0000612]
Keyhole iris [HPO:0000612]
Coloboma of iris [Orphanet:4180]
Coloboma of iris (disorder) [Orphanet:4180]
Congenital coloboma of iris [Orphanet:4180]
Coloboma of iris [OMIM:Coloboma of iris]
Coloboma of the iris [OMIM:Coloboma of the iris]
Iris coloboma [OMIM:Iris coloboma]
Iris coloboma [Orphanet:4180]
Iris coloboma [MedDRA:10052642]
Coloboma of iris (1 of 5 patients) [OMIM:Coloboma of iris (1 of 5 patients)]
Coloboma of the iris (in some patients) [OMIM:Coloboma of the iris (in some patients)]
Coloboma of the iris (rare) [OMIM:Coloboma of the iris (rare)]
Coloboma, iris [OMIM:Coloboma, iris]
Quality:
Cross references:
Orphanet:4180 "Coloboma of iris" [Orphanet:4180]
OMIM: "Coloboma of iris" [OMIM:Coloboma of iris]
OMIM: "Coloboma of the iris" [OMIM:Coloboma of the iris]
OMIM: "Iris coloboma" [OMIM:Iris coloboma]
OMIM: "Coloboma of iris (1 of 5 patients)" [OMIM:Coloboma of iris (1 of 5 patients)]
OMIM: "Coloboma of the iris (in some patients)" [OMIM:Coloboma of the iris (in some patients)]
OMIM: "Coloboma of the iris (rare)" [OMIM:Coloboma of the iris (rare)]
OMIM: "Coloboma, iris" [OMIM:Coloboma, iris]
UMLS:C0266551 "Congenital coloboma of iris" [Orphanet:4180]
Is a (Direct Parents):
HPO         Coloboma
Orphanet Abnormality of the eye
MedDRA Iris and choroid disorders congenital
HPO         Abnormality of the iris
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)
                      Iris coloboma(HPO:0000612)
                Abnormality of the uvea(HPO:0000553)
                   Abnormality of the iris(HPO:0000525)
                      Iris coloboma(HPO:0000612)
             Coloboma(HPO:0000589)
                Iris coloboma(HPO:0000612)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Iris and choroid disorders congenital(MedDRA:10022946)
          Iris coloboma(HPO:0000612)
Database Frequency: 116 / 7739
Resource:

All diseases associated with this symptom:

15q24 microdeletion syndrome (Orphanet:94065)
1q21.1 microdeletion syndrome (Orphanet:250989)
2q31.1 microdeletion syndrome (Orphanet:251014)
3C syndrome (Orphanet:7)
3q29 microduplication (Orphanet:251038)
8p11.2 deletion syndrome (Orphanet:251066)
ALG2-CDG (Orphanet:79326)
ALG3-CDG (Orphanet:79321)
ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM,AND TRACHEAL STENOSIS (OMIM:601427)
Abruzzo-Erickson syndrome (Orphanet:921)
Acro-renal-ocular syndrome (Orphanet:959)
Acroosteolysis, dominant type (Orphanet:955)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies (Orphanet:1101)
Anophthalmia plus syndrome (Orphanet:1104)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Arrhinia (Orphanet:1134)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BRESEK syndrome (Orphanet:85284)
Baraitser-Winter syndrome (Orphanet:2995)
Biemond syndrome type 2 (Orphanet:141333)
Blepharoptosis - myopia - ectopia lentis (Orphanet:1259)
Brachydactyly - nystagmus - cerebellar ataxia (Orphanet:1246)
Branchio-oculo-facial syndrome (Orphanet:1297)
CATARACT 21, MULTIPLE TYPES (OMIM:610202)
CATARACT 9, MULTIPLE TYPES (OMIM:604219)
CHARGE syndrome (Orphanet:138)
Cat-eye syndrome (Orphanet:195)
Cataract-microcornea syndrome (Orphanet:1377)
Cohen syndrome (Orphanet:193)
Congenital blindness due to retinal non-attachment (Orphanet:300337)
Crouzon disease (Orphanet:207)
Curry-Jones syndrome (Orphanet:1553)
Deaf blind hypopigmentation syndrome, Yemenite type (Orphanet:3214)
Distal monosomy 13q (Orphanet:1590)
Distal trisomy 18q (Orphanet:1716)
Donnai-Barrow syndrome (Orphanet:2143)
Dubowitz syndrome (Orphanet:235)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
FRONTOFACIONASAL DYSPLASIA (OMIM:229400)
Focal dermal hypoplasia (Orphanet:2092)
Fronto-facio-nasal dysostosis (Orphanet:1791)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Gorlin syndrome (Orphanet:377)
Hallermann-Streiff syndrome (Orphanet:2108)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - radial heart renal anomalies (Orphanet:3186)
Humero-radial synostosis (Orphanet:3265)
Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism (Orphanet:2250)
Intellectual deficit - athetosis - microphthalmia (Orphanet:1236)
Ito hypomelanosis (Orphanet:435)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome (Orphanet:475)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Joubert syndrome with renal defect (Orphanet:220497)
KAHRIZI SYNDROME (OMIM:612713)
Kallmann syndrome (Orphanet:478)
Kapur-Toriello syndrome (Orphanet:2328)
Lateral meningocele syndrome (Orphanet:2789)
Laurence-Moon syndrome (Orphanet:2377)
Linear nevus sebaceus syndrome (Orphanet:2612)
Linear verrucous nevus syndrome (Orphanet:2611)
Loose anagen syndrome (Orphanet:168)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma (Orphanet:231736)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia, Lenz type (Orphanet:568)
Microtia - eye coloboma - imperforation of the nasolacrimal duct (Orphanet:139450)
Monosomy 13q14 (Orphanet:1587)
Mowat-Wilson syndrome (Orphanet:2152)
Mycophenolate mofetil embryopathy (Orphanet:268249)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Ocular coloboma (Orphanet:194)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculofaciocardiodental syndrome (Orphanet:2712)
Okihiro syndrome (Orphanet:93293)
Osteocraniostenosis (Orphanet:2763)
Otodental syndrome (Orphanet:2791)
PHACE syndrome (Orphanet:42775)
Pai syndrome (Orphanet:1993)
Pelvis-shoulder dysplasia (Orphanet:2839)
Peters-plus syndrome (Orphanet:709)
Preaxial polydactyly - colobomata - intellectual deficit (Orphanet:2921)
Progressive retinal dystrophy due to retinol transport defect (Orphanet:352718)
Renpenning syndrome (Orphanet:3242)
Scalp-ear-nipple syndrome (Orphanet:2036)
Short stature - intellectual deficit - eye anomalies - cleft lip/palate (Orphanet:2649)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Sturge-Weber syndrome (Orphanet:3205)
Syngnathia multiple anomalies (Orphanet:3262)
Temtamy syndrome (Orphanet:1777)
Terminal osseous dysplasia - pigmentary defects (Orphanet:88630)
Tetraamelia - multiple malformations (Orphanet:3301)
Townes-Brocks syndrome (Orphanet:857)
Treacher-Collins syndrome (Orphanet:861)
Triopia (Orphanet:3374)
Triple A syndrome (Orphanet:869)
Triploidy (Orphanet:3376)
Trisomy 13 (Orphanet:3378)
Trisomy 18 (Orphanet:3380)
Tuberous sclerosis (Orphanet:805)
Uveal coloboma - cleft lip and palate - intellectual deficit (Orphanet:1473)
Walker-Warburg syndrome (Orphanet:899)
Wolf-Hirschhorn syndrome (Orphanet:280)