Anophthalmia
Symptom Information:
Symptom ID: | HPO:0000528 | |||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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) Abnormality of the orbital region(HPO:0000315) Abnormality of globe size(HPO:0100887) Anophthalmia(HPO:0000528) obsolete Abnormality of the ocular region(HPO:0000284) 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) Aplasia/Hypoplasia affecting the eye(HPO:0008056) Anophthalmia(HPO:0000528) Abnormality of globe size(HPO:0100887) 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) |
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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) |