Microcornea

Symptom Information:

Symptom ID: HPO:0000482
Synonyms:
Decreased corneal diameter [HPO:0000482]
Microcornea (disorder) [Orphanet:4380]
Microcornea [Orphanet:4380]
Microcornea [OMIM:Microcornea]
Microcornea [MedDRA:10057414]
Microcornea (2 of 5 patients) [OMIM:Microcornea (2 of 5 patients)]
Microcornea (in some patients) [OMIM:Microcornea (in some patients)]
Microcorneas [OMIM:Microcorneas]
Corneal diameter decreased [MedDRA:10059298]
Quality:
Cross references:
Orphanet:4380 "Microcornea" [Orphanet:4380]
OMIM: "Microcornea" [OMIM:Microcornea]
OMIM: "Microcornea (2 of 5 patients)" [OMIM:Microcornea (2 of 5 patients)]
OMIM: "Microcornea (in some patients)" [OMIM:Microcornea (in some patients)]
OMIM: "Microcorneas" [OMIM:Microcorneas]
UMLS:C0266544 "Microcornea" [HPO:0000482]
UMLS:C0266544 "Microcornea" [Orphanet:4380]
Is a (Direct Parents):
MedDRA Ophthalmic function diagnostic procedures
Orphanet Abnormality of the eye
HPO         Abnormality of corneal size
MedDRA Corneal and scleral disorders congenital
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 cornea(HPO:0000481)
                      Abnormality of corneal size(HPO:0001120)
                         Microcornea(HPO:0000482)
MedDRA:
Investigations(MedDRA:10022891)
    Neurological, special senses and psychiatric investigations(MedDRA:10029295)
       Ophthalmic function diagnostic procedures(MedDRA:10030864)
          Microcornea(HPO:0000482)
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Corneal and scleral disorders congenital(MedDRA:10010987)
          Microcornea(HPO:0000482)
Database Frequency: 102 / 7739
Resource:

All diseases associated with this symptom:

19q13.11 microdeletion syndrome (Orphanet:217346)
8p11.2 deletion syndrome (Orphanet:251066)
ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT (OMIM:106230)
AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
AXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
Abruzzo-Erickson syndrome (Orphanet:921)
Acro-renal-ocular syndrome (Orphanet:959)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Aniridia (Orphanet:77)
Autosomal dominant vitreoretinochoroidopathy (Orphanet:3086)
Axenfeld-Rieger syndrome (Orphanet:782)
Baraitser-Winter syndrome (Orphanet:2995)
Blepharophimosis - epicanthus inversus - ptosis (Orphanet:126)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
Blue diaper syndrome (Orphanet:94086)
Branchio-oculo-facial syndrome (Orphanet:1297)
CARPENTER SYNDROME 1 (OMIM:201000)
CATARACT 2, MULTIPLE TYPES (OMIM:604307)
CATARACT 21, MULTIPLE TYPES (OMIM:610202)
CATARACT 9, MULTIPLE TYPES (OMIM:604219)
COCKAYNE SYNDROME B (OMIM:133540)
CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES (OMIM:269400)
CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS (OMIM:608279)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Carpenter syndrome (Orphanet:65759)
Cataract-microcornea syndrome (Orphanet:1377)
Cockayne syndrome (Orphanet:191)
Congenital blindness due to retinal non-attachment (Orphanet:300337)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Cornelia de Lange syndrome (Orphanet:199)
Deaf blind hypopigmentation syndrome, Yemenite type (Orphanet:3214)
EDICT syndrome (Orphanet:293936)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
Ectodermal dysplasia - blindness (Orphanet:1806)
Ehlers-Danlos syndrome, classic type (Orphanet:287)
Ehlers-Danlos syndrome, kyphoscoliotic type (Orphanet:1900)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
FRONTOFACIONASAL DYSPLASIA (OMIM:229400)
Familial vascular leukoencephalopathy (Orphanet:36383)
Fronto-facio-nasal dysostosis (Orphanet:1791)
Geroderma osteodysplastica (Orphanet:2078)
Intellectual deficit, X-linked, Miles-Carpenter type (Orphanet:85283)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome 2 (OMIM:608091)
Juvenile cataract - microcornea - renal glucosuria (Orphanet:247794)
Kabuki syndrome (Orphanet:2322)
Lathosterolosis (Orphanet:46059)
Leri pleonosteosis (Orphanet:2900)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
MICROPHTHALMIA, SYNDROMIC 14 (OMIM:615877)
MMEP syndrome (Orphanet:3434)
MOVED TO 302200 (OMIM:302300)
MRCS syndrome (Orphanet:263347)
Macrosomia - microphthalmia - cleft palate (Orphanet:2432)
Meckel syndrome (Orphanet:564)
Micro syndrome (Orphanet:2510)
Microcephaly-microcornea syndrome, Seemanova type (Orphanet:2528)
Microcornea - corectopia - macular hypoplasia (Orphanet:2535)
Microcornea - glaucoma - absent frontal sinuses (Orphanet:2536)
Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma (Orphanet:231736)
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome (Orphanet:369970)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia, Lenz type (Orphanet:568)
Mietens syndrome (Orphanet:2557)
Multiple benign circumferential skin creases on limbs (Orphanet:2505)
Nail-patella syndrome (Orphanet:2614)
Nance-Horan syndrome (Orphanet:627)
OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Oculoauricular syndrome, Schorderet type (Orphanet:157962)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculodentodigital dysplasia (Orphanet:2710)
Oculofaciocardiodental syndrome (Orphanet:2712)
Osteocraniostenosis (Orphanet:2763)
Otodental syndrome (Orphanet:2791)
Pelvis-shoulder dysplasia (Orphanet:2839)
Pelviscapular dysplasia (Orphanet:93333)
Peters anomaly (Orphanet:708)
Peters-plus syndrome (Orphanet:709)
Progressive retinal dystrophy due to retinol transport defect (Orphanet:352718)
Pseudoprogeria syndrome (Orphanet:2985)
Rothmund-Thomson syndrome (Orphanet:2909)
Schinzel-Giedion syndrome (Orphanet:798)
Schwartz-Jampel syndrome (Orphanet:800)
Smith-Magenis syndrome (Orphanet:819)
Subaortic stenosis - short stature (Orphanet:3191)
Syndromic microphthalmia type 5 (Orphanet:178364)
Tetraamelia - multiple malformations (Orphanet:3301)
Triopia (Orphanet:3374)
Trisomy 18 (Orphanet:3380)
VACTERL with hydrocephalus (Orphanet:3412)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
WARBURG MICRO SYNDROME 2 (OMIM:614225)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WARBURG MICRO SYNDROME 4 (OMIM:615663)
Walker-Warburg syndrome (Orphanet:899)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)