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Ontology Browser
Term:
syndromic microphthalmia 14 (DOID:0111802)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
autosomal genetic disease +     
coloboma +     
syndromic microphthalmia +     
Aicardi-Goutieres syndrome +   
Alsing Syndrome 
Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 
Arima Syndrome 
autosomal dominant disease +   
autosomal hemophilia A  
autosomal recessive disease +   
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Biemond Syndrome II 
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 
Calloso-Genital Dysplasia 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
CHIME syndrome  
COACH syndrome +   
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Coloboma of Macula and Skeletal Anomalies 
Coloboma of Macula with Type B Brachydactyly 
coloboma of optic nerve  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
congenital nystagmus 1  
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
distal arthrogryposis type 1C  
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
focal segmental glomerulosclerosis 3  
Gillespie syndrome  
Hereditary Macular Coloboma  
Hittner Hirsch Kreh Syndrome  
hypophosphatasia +   
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 
IRIS COLOBOMA  
Isolated Microphthalmia with Coloboma +   
Kahrizi syndrome  
linear skin defects with multiple congenital anomalies 1  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Marles Greenberg Persaud Syndrome  
McCune Albright syndrome  
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
Microphthalmia and Mental Deficiency 
Microphthalmia Associated with Colobomatous Cyst 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 
Nasopalpebral Lipoma Coloboma Syndrome  
Otodental Dysplasia 
Pfeiffer Mayer Syndrome 
renal coloboma syndrome  
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
retinitis pigmentosa 86  
Robinow syndrome +   
septooptic dysplasia +   
Sotos syndrome +   
spondylocostal dysostosis 5  
syndromic microphthalmia 1  
syndromic microphthalmia 10 
syndromic microphthalmia 11  
syndromic microphthalmia 12  
syndromic microphthalmia 13  
syndromic microphthalmia 14  
A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in MAB21L2 on chromosome 4q31.3. (DO)
syndromic microphthalmia 2  
syndromic microphthalmia 3  
syndromic microphthalmia 5  
syndromic microphthalmia 6  
syndromic microphthalmia 8 
syndromic microphthalmia 9  
Temtamy syndrome  
thrombophilia due to thrombomodulin defect  
tubulinopathy  
uveal coloboma-cleft lip and palate-intellectual disability  
Weill-Marchesani syndrome +   
Yim Ebbin Syndrome 

Synonyms
Exact Synonyms: MCOPS14 ;   MCSKS ;   MICROPHTHALMIA AND COLOBOMA, WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA ;   MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME ;   colobomatous microphthalmia-rhizomelic dysplasia syndrome ;   microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia ;   microphthalmia or coloboma with or without rhizomelic skeletal dysplasia
Primary IDs: OMIM:615877
Xrefs: ORDO:424099
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/24906020 "DO" "DO"

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