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Disease Coloboma

Name Coloboma
Synonyms COI | Coloboma, Ocular | COLOBOMA, OCULAR, AUTOSOMAL DOMINANT | COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | Coloboma Of Iris, Choroid, And Retina | Colobomas | Coloboma, Uveoretinal | Ocular Coloboma | Uveoretinal Coloboma
Definition Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
Categories Congenital abnormality | Eye disease
MeSH® ID D003103
OMIM® IDs 120200 | 216820
External Links

Top ↑ Ancestors

1. DiseasesEye Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Eye Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Coloboma Has associated chemicals Has associated genes Has associated phenotype references
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Eye Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Coloboma Has associated chemicals Has associated genes Has associated phenotype references

Top ↑ Descendants

Coloboma Has associated chemicals Has associated genes Has associated phenotype references
  Alsing syndrome
  Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma
  Arima syndrome
  Baraitser Rodeck Garner syndrome
  Biemond syndrome II
  Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
  Calloso-genital dysplasia
  COACH syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Coloboma, cleft lip-palate and mental retardation syndrome
  Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
  COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION Has associated chemicals Has associated genes Has associated phenotype references
  Coloboma of Alar-nasal cartilages with telecanthus
  Coloboma of Macula and Skeletal Anomalies
  Coloboma of macula type B brachydactyly
  Coloboma of optic nerve Has associated chemicals Has associated genes Has associated phenotype references
  COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS Has associated chemicals Has associated genes Has associated phenotype references
  Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation
  Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Has associated chemicals Has associated genes Has associated phenotype references
  Hereditary macular coloboma Has associated chemicals Has associated genes Has associated phenotype references
  Hittner Hirsch Kreh syndrome
  Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
  Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
  Kahrizi Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Macrosomia obesity macrocephaly ocular abnormalities
  Marles Greenberg Persaud syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Median cleft lip, corpus callosum, lipoma, and skin polyps
  Microphthalmia and mental deficiency
  Microphthalmia associated with colobomatous cyst
  Microphthalmia, Cataracts, and Iris Abnormalities
  Microphthalmia, Isolated, with Coloboma 1
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 Has associated chemicals Has associated genes Has associated phenotype references
  Microphthalmia, Isolated, with Coloboma 2
  Microphthalmia, Isolated, with Coloboma 3 Has associated chemicals Has associated genes Has associated phenotype references
  Microphthalmia, Isolated, with Coloboma 4
  Microphthalmia, Isolated, with Coloboma 5 Has associated chemicals Has associated genes Has associated phenotype references
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 Has associated chemicals Has associated genes Has associated phenotype references
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 Has associated chemicals Has associated genes Has associated phenotype references
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 Has associated chemicals Has associated genes Has associated phenotype references
  Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
  Nasopalpebral lipoma coloboma syndrome
  Otodental Dysplasia
  Papillorenal syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Pfeiffer Mayer syndrome
  RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT Has associated chemicals Has associated genes Has associated phenotype references
  RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  Temtamy syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
  Yim Ebbin syndrome
  Zunich neuroectodermal syndrome Has associated chemicals Has associated genes Has associated phenotype references