True anophthalmia

Symptom Information:

Symptom ID: HPO:0011478
Synonyms:
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]
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]
Anophthalmia, true [OMIM:Anophthalmia, true]
Anophthalmos [OMIM:Anophthalmos]
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:0000528 "Anophthalmia" [Orphanet:4020]
HPO:0000568 "Microphthalmos" [Orphanet:4020]
Orphanet:4020 "Anophthalmos/anophthalmia/microphthalmos/microphthalmia" [Orphanet:4020]
OMIM: "Anophthalmia, true" [OMIM:Anophthalmia, true]
OMIM: "Anophthalmos" [OMIM:Anophthalmos]
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:C0423217 "Absent eyeball" [Orphanet:4020]
UMLS:C0026010 "Microphthalmos" [Orphanet:4020]
UMLS:C0003119 "Anophthalmos" [Orphanet:4020]
Is a (Direct Parents):
HPO         Anophthalmia
MedDRA Ocular disorders congenital NEC
Orphanet Abnormality of the eye
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)
                Aplasia/Hypoplasia affecting the eye(HPO:0008056)
                   Anophthalmia(HPO:0000528)
                      True anophthalmia(HPO:0011478)
                Abnormality of globe size(HPO:0100887)
                   Anophthalmia(HPO:0000528)
                      True anophthalmia(HPO:0011478)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                Abnormality of the orbital region(HPO:0000315)
                   Abnormality of globe size(HPO:0100887)
                      Anophthalmia(HPO:0000528)
                         True anophthalmia(HPO:0011478)
                obsolete Abnormality of the ocular region(HPO:0000284)
                   Abnormality of globe size(HPO:0100887)
                      Anophthalmia(HPO:0000528)
                         True anophthalmia(HPO:0011478)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Ocular disorders congenital NEC(MedDRA:10027673)
          True anophthalmia(HPO:0011478)
Database Frequency: 17 / 7739
Resource:

All diseases associated with this symptom:

17q12 microduplication syndrome (Orphanet:261272)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Autosomal dominant vitreoretinochoroidopathy (Orphanet:3086)
Bartsocas-Papas syndrome (Orphanet:1234)
CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Focal dermal hypoplasia (Orphanet:2092)
MICROPHTHALMIA, ISOLATED 1 (OMIM:251600)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
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)
Microphthalmia - ankyloblepharon - intellectual deficit (Orphanet:85275)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Mowat-Wilson syndrome (Orphanet:2152)
Myhre syndrome (Orphanet:2588)
PHACE syndrome (Orphanet:42775)
Renpenning syndrome (Orphanet:3242)