Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandBrachydactyly (D059327)
Parent Node:
expandCleft Palate (D002972)
Parent Node:
expandColoboma (D003103)
..Starting node
..expandColoboma of Macula and Skeletal Anomalies (C565686)

       Child Nodes:



 Sister Nodes: 
..expandAlsing syndrome (C536588)
..expandAortic Arch Interruption, Facial Palsy, and Retinal Coloboma (C566271)
..expandArima syndrome (C537430)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandBiemond Syndrome II (C565902)
..expandBiemond syndrome type 2 (C535439)
..expandBrachydactyly, Coloboma, And Anterior Segment Dysgenesis (C566484)
..expandCalloso-genital dysplasia (C537962)
..expandCOACH syndrome (C536430)
..expandColoboma of Alar-nasal cartilages with telecanthus (C535967)
..expandColoboma of Macula and Skeletal Anomalies (C565686)
..expandColoboma of macula type B brachydactyly (C535969)
..expandColoboma of optic nerve (C535970)
..expandColoboma, cleft lip/palate and mental retardation syndrome (C535971)
..expandColoboma, Uveal, with Cleft Lip and Palate and Mental Retardation (C565173)
..expandColoboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
..expandCorpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
..expandHereditary macular coloboma (C535968)
..expandHittner Hirsch Kreh syndrome (C538323)
..expandHypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
..expandIris Coloboma with Ptosis, Hypertelorism, and Mental Retardation (C565462)
..expandKahrizi Syndrome (C567196)
..expandMacrosomia obesity macrocephaly ocular abnormalities (C535812)
..expandMarles Greenberg Persaud syndrome (C536022)
..expandMedian cleft lip, corpus callosum, lipoma, and skin polyps (C536135)
..expandMicrophthalmia and mental deficiency (C537462)
..expandMicrophthalmia associated with colobomatous cyst (C537463)
..expandMicrophthalmia, Cataracts, and Iris Abnormalities (C566448)
..expandMicrophthalmia, Isolated, with Coloboma 1 (C564531)
..expandMicrophthalmia, Isolated, with Coloboma 2 (C565300)
..expandMicrophthalmia, Isolated, with Coloboma 3 (C566447)
..expandMicrophthalmia, Isolated, with Coloboma 4 (C565378)
..expandMicrophthalmia, Isolated, with Coloboma 5 (C566899)
..expandMICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
..expandMicrotia With Nasolacrimal Duct Imperforation And Eye Coloboma (C567512)
..expandNasopalpebral lipoma coloboma syndrome (C538338)
..expandOtodental Dysplasia (C563482)
..expandPapillorenal syndrome (C537168)
..expandPfeiffer Mayer syndrome (C537888)
..expandTemtamy syndrome (C536959)
..expandThumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness (C564769)
..expandYim Ebbin syndrome (C536713)
..expandZunich neuroectodermal syndrome (C536729)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2493
Name:Coloboma of Macula and Skeletal Anomalies
Definition:
Alternative IDs:
ParentIDs:MESH:D002972|MESH:D003103|MESH:D059327
TreeNumbers:C05.500.460.185/C565686 |C05.660.207.540.460.185/C565686 |C05.660.585.262/C565686 |C07.320.440.185/C565686 |C07.465.525.185/C565686 |C07.650.500.460.185/C565686 |C07.650.525.185/C565686 |C11.250.110/C565686 |C16.131.384.282/C565686 |C16.131.621.207.540.460.185/C5
Synonyms:
Slim Mappings:Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease
Reference: MedGen: C565686
MeSH: C565686
OMIM: 216800;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000175Cleft palate
3 HP:0009184Contracture of the distal interphalangeal joint of the 5th finger
4 HP:0002673Coxa valga
5 HP:0002857Genu valgum
6 HP:0001822Hallux valgus
7 HP:0000540Hypermetropia
8 HP:0001116Macular coloboma
9 HP:0000639Nystagmus
10 HP:0005001Recurrent patellar dislocation
11 HP:0000340Sloping forehead
Disease Causing ClinVar Variants