Iris coloboma
Symptom Information:
Symptom ID: | HPO:0000612 | |||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the eye(HPO:0000478) Abnormal eye morphology(HPO:0012372) Coloboma(HPO:0000589) Iris coloboma(HPO:0000612) Abnormality of the globe(HPO:0012374) Abnormality of the uvea(HPO:0000553) Abnormality of the iris(HPO:0000525) Iris coloboma(HPO:0000612) Abnormality of the anterior segment of the globe(HPO:0004328) Abnormality of the iris(HPO:0000525) 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) |
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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) |