Anophthalmia

Symptom Information:

Symptom ID: HPO:0000528
Synonyms:
Anophthalmia, clinical [HPO:0000528]
Clinical anophthalmia, unilateral/bilateral [HPO:0000528]
anophthalmia [Orphanet:4020]
Anophthalmos (disorder) [Orphanet:4020]
Simple microphthalmos (disorder) [Orphanet:4020]
Microphthalmos (disorder) [Orphanet:4020]
Agenesis of eye (disorder) [Orphanet:4020]
Absent eyeball (finding) [Orphanet:4020]
Absent eyeball [Orphanet:4020]
Microphthalmos [Orphanet:4020]
Anophthalmos [Orphanet:4020]
Anophthalmia [OMIM:Anophthalmia]
Anophthalmia, clinical [OMIM:Anophthalmia, clinical]
Anophthalmos/anophthalmia/microphthalmos/microphthalmia [Orphanet:4020]
Anophthalmos [MedDRA:10002640]
Anophthalmia [MedDRA:10002640]
Clinical anophthalmos, unspecified [MedDRA:10002640]
Microphthalmos [MedDRA:10027548]
Congenital microphthalmos [MedDRA:10027548]
Microphthalmia [MedDRA:10027548]
Microphthalmos associated with other anomalies of eye and adnexa [MedDRA:10027548]
Microphthalmos, unspecified [MedDRA:10027548]
Simple microphthalmos [MedDRA:10027548]
Anophthalmos [OMIM:Anophthalmos]
Clinical anophthalmia, unilateral/bilateral (87%) [OMIM:Clinical anophthalmia, unilateral/bilateral (87%)]
Microphthalmia (15%) [OMIM:Microphthalmia (15%)]
Microphthalmia (WWS) [OMIM:Microphthalmia (WWS)]
Microphthalmia (in some patients) [OMIM:Microphthalmia (in some patients)]
Microphthalmia (ipsilateral to facial hemangioma) [OMIM:Microphthalmia (ipsilateral to facial hemangioma)]
Microphthalmia (rare) [OMIM:Microphthalmia (rare)]
Microphthalmia (some) [OMIM:Microphthalmia (some)]
Quality:
Cross references:
HPO:0011478 "True anophthalmia" [Orphanet:4020]
HPO:0000568 "Microphthalmos" [Orphanet:4020]
Orphanet:4020 "Anophthalmos/anophthalmia/microphthalmos/microphthalmia" [Orphanet:4020]
OMIM: "Anophthalmia" [OMIM:Anophthalmia]
OMIM: "Anophthalmia, clinical" [OMIM:Anophthalmia, clinical]
OMIM: "Anophthalmos" [OMIM:Anophthalmos]
OMIM: "Clinical anophthalmia, unilateral/bilateral (87%)" [OMIM:Clinical anophthalmia, unilateral/bilateral (87%)]
OMIM: "Microphthalmia (15%)" [OMIM:Microphthalmia (15%)]
OMIM: "Microphthalmia (WWS)" [OMIM:Microphthalmia (WWS)]
OMIM: "Microphthalmia (in some patients)" [OMIM:Microphthalmia (in some patients)]
OMIM: "Microphthalmia (ipsilateral to facial hemangioma)" [OMIM:Microphthalmia (ipsilateral to facial hemangioma)]
OMIM: "Microphthalmia (rare)" [OMIM:Microphthalmia (rare)]
OMIM: "Microphthalmia (some)" [OMIM:Microphthalmia (some)]
UMLS:C0003119 "Anophthalmia" [HPO:0000528]
UMLS:C0423217 "Absent eyeball" [Orphanet:4020]
UMLS:C0026010 "Microphthalmos" [Orphanet:4020]
UMLS:C0003119 "Anophthalmos" [Orphanet:4020]
Is a (Direct Parents):
MedDRA Ocular disorders congenital NEC
HPO         Aplasia/Hypoplasia affecting the eye
HPO         Abnormality of globe size
Orphanet Abnormality of the eye
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                obsolete Abnormality of the ocular region(HPO:0000284)
                   Abnormality of globe size(HPO:0100887)
                      Anophthalmia(HPO:0000528)
                Abnormality of the orbital region(HPO:0000315)
                   Abnormality of globe size(HPO:0100887)
                      Anophthalmia(HPO:0000528)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of globe size(HPO:0100887)
                   Anophthalmia(HPO:0000528)
                Aplasia/Hypoplasia affecting the eye(HPO:0008056)
                   Anophthalmia(HPO:0000528)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Ocular disorders congenital NEC(MedDRA:10027673)
          Anophthalmia(HPO:0000528)
Database Frequency: 42 / 7739
Resource:

All diseases associated with this symptom:

17q12 microduplication syndrome (Orphanet:261272)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Anophthalmia plus syndrome (Orphanet:1104)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Autosomal dominant vitreoretinochoroidopathy (Orphanet:3086)
Bartsocas-Papas syndrome (Orphanet:1234)
Branchio-oculo-facial syndrome (Orphanet:1297)
CATARACT 9, MULTIPLE TYPES (OMIM:604219)
CHARGE syndrome (Orphanet:138)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA (OMIM:221950)
Focal dermal hypoplasia (Orphanet:2092)
Fraser syndrome (Orphanet:2052)
Goldenhar syndrome (Orphanet:374)
HOLOPROSENCEPHALY 9 (OMIM:610829)
Isolated anophthalmia - microphthalmia (Orphanet:2542)
Joubert syndrome 21 (OMIM:615636)
MICROPHTHALMIA, ISOLATED 1 (OMIM:251600)
MICROPHTHALMIA, ISOLATED 3 (OMIM:611038)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MRCS syndrome (Orphanet:263347)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
Matthew-Wood syndrome (Orphanet:2470)
Meckel syndrome, type 8 (OMIM:613885)
Microgastria - limb reduction defect (Orphanet:2538)
Microphthalmia - ankyloblepharon - intellectual deficit (Orphanet:85275)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with limb anomalies (Orphanet:1106)
Mowat-Wilson syndrome (Orphanet:2152)
Myhre syndrome (Orphanet:2588)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculofaciocardiodental syndrome (Orphanet:2712)
Oculotrichoanal syndrome (Orphanet:2717)
PHACE syndrome (Orphanet:42775)
Renpenning syndrome (Orphanet:3242)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Solitary median maxillary central incisor syndrome (Orphanet:2286)