{ "id": 7019, "label": "eye disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005328", "properties": { "xrefs": [ "DOID:1242", "DOID:5614", "EFO:0003966", "ICD9:360", "ICD9:360.29", "ICD9:360.89", "ICD9:360.9", "ICD9:379.8", "ICD9:379.90", "MEDGEN:5092", "MESH:D005128", "NCIT:C26767", "SCTID:371405004", "UMLS:C0015397" ], "synonyms": [ "disease of eye", "disease of eyeball of camera-type eye", "disease or disorder of eyeball of camera-type eye", "disorder of eye", "disorder of eyeball of camera-type eye", "eye disease", "eye disorder", "eyeball of camera-type eye disease", "eyeball of camera-type eye disease or disorder", "globe disease", "disease of eyeball", "disorder of eye proper", "disorder of eyeball", "disorder of globe" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma." }, "isLeaf": false, "isRoot": false, "child_count": 120, "parents": [ { "id": 4171, "label": "disorder of orbital region", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1492", "ICD10CM:H00-H59", "ICD9:362.10", "MEDGEN:1863347", "SCTID:371409005", "UMLS:C5886742" ], "synonyms": [ "disease of orbital region", "disease or disorder of orbital region", "disorder of eye region", "disorder of orbital region", "orbital region disease", "orbital region disease or disorder", "eye and adnexa disease", "ophthalmological disorder" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" } ], "definition": "A disease that involves the orbital region." }, "child_count": 4, "reference_id": "MONDO:0002022" }, { "id": 21415, "label": "disorder of visual system", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "SCTID:128127008" ], "synonyms": [ "disease of visual system", "disease or disorder of visual system", "disorder of visual system", "visual system disease", "visual system disease or disorder", "visual system disorder" ], "categories": [ { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A disease that involves the visual system." }, "child_count": 30, "reference_id": "MONDO:0024458" } ], "children": [ { "id": 3108, "label": "ptosis", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060260", "HP:0000508", "ICD9:374.3", "ICD9:374.30", "MEDGEN:2287", "MESH:D001763", "NCIT:C27298", "SCTID:11934000", "UMLS:C0005745", "icd11.foundation:1361674069" ], "synonyms": [ "blepharoptosis", "drooping eyelid", "eyelid ptosis", "ptosis", "ptosis (disease)" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "The drooping of the upper eyelid." }, "child_count": 3, "reference_id": "MONDO:0000728" }, { "id": 3196, "label": "eye accommodation disease", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10034", "ICD9:367.5", "MEDGEN:508925", "SCTID:54552008", "UMLS:C0152198" ], "synonyms": [ "disorder of accommodation" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies." }, "child_count": 4, "reference_id": "MONDO:0000926" }, { "id": 3211, "label": "corneal disorder", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10124", "EFO:0009464", "ICD9:371.30", "ICD9:371.89", "ICD9:371.9", "MEDGEN:3617", "MESH:D003316", "NCIT:C26731", "SCTID:15250008", "UMLS:C0010034", "icd11.foundation:980864631" ], "synonyms": [ "cornea disease", "cornea disease or disorder", "corneal disease", "corneal disorder", "disease of cornea", "disease or disorder of cornea", "disorder of cornea" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma." }, "child_count": 24, "reference_id": "MONDO:0000942" }, { "id": 3219, "label": "asthenopia", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10141", "MEDGEN:2108", "MESH:D001248", "UMLS:C0004095" ], "synonyms": [ "accommodative strain" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches." }, "child_count": 0, "reference_id": "MONDO:0000950" }, { "id": 3420, "label": "lens disorder", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:110", "EFO:0009674", "ICD10CM:H25-H28", "ICD9:379.39", "MEDGEN:892382", "MESH:D007905", "NCIT:C26812", "SCTID:10810001", "UMLS:C0549651" ], "synonyms": [ "disease of lens of camera-type eye", "disease or disorder of lens of camera-type eye", "disorder of lens of camera-type eye", "lens disorder", "lens of camera-type eye disease", "lens of camera-type eye disease or disorder" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A disease involving the lens of camera-type eye." }, "child_count": 10, "reference_id": "MONDO:0001176" }, { "id": 3489, "label": "keratomalacia", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11267", "ICD10CM:H18.44", "ICD9:371.45", "MEDGEN:57777", "MESH:C536156", "SCTID:85149007", "UMLS:C0152455", "icd11.foundation:497316188" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia." }, "child_count": 0, "reference_id": "MONDO:0001250" }, { "id": 3504, "label": "scleral disorder", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11343", "ICD9:379.19", "MEDGEN:11345", "MESH:D015422", "NCIT:C79717", "SCTID:33064008", "UMLS:C0036412" ], "synonyms": [ "disease of sclera", "disease or disorder of sclera", "disorder of sclera", "sclera disease", "sclera disease or disorder", "sclera disorder", "scleral disorder" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare." }, "child_count": 7, "reference_id": "MONDO:0001269" }, { "id": 3579, "label": "ocular siderosis", "isLeaf": true, "isRoot": false, "parents": [ 3654, 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11754", "ICD10CM:H44.32", "ICD9:360.23", "MEDGEN:543098", "SCTID:25277000", "UMLS:C0271001" ], "synonyms": [ "camera-type eye hemosiderosis", "hemosiderosis of camera-type eye", "siderosis bulbi", "siderosis of eye", "siderosis of globe" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A hemosiderosis that involves the camera-type eye." }, "child_count": 0, "reference_id": "MONDO:0001355" }, { "id": 3690, "label": "coloboma", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12270", "ICD9:743.49", "MEDGEN:1046", "MESH:D003103", "NCIT:C98877", "Orphanet:194", "SCTID:93390002", "UMLS:C0009363" ], "synonyms": [ "coloboma of the eye", "ocular coloboma", "coloboma of macula", "congenital ocular coloboma" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An abnormality in which a part of a structure in one or both eyes is missing." }, "child_count": 8, "reference_id": "MONDO:0001476" }, { "id": 3731, "label": "luxation of globe", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1241", "ICD10CM:H44.82", "ICD9:360.81", "MEDGEN:509664", "SCTID:20842008", "UMLS:C0154806" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0001523" }, { "id": 3787, "label": "mucopolysaccharidosis type 1", "isLeaf": false, "isRoot": false, "parents": [ 7019, 7061, 19111 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12802", "GARD:0010335", "MEDGEN:44171", "MedDRA:10056886", "NANDO:2200547", "NANDO:2201168", "NCIT:C85053", "NORD:1462", "Orphanet:579", "SCTID:75610003", "UMLS:C0023786", "icd11.foundation:1539226250" ], "synonyms": [ "Alpha-L-iduronidase deficiency", "MPS1", "MPSI", "Mucopolysaccharidosis Type I", "lipochondrodystrophy", "mucopolysaccharidosis type 1", "mucopolysaccharidosis type I", "Hurler syndrome", "Hurler syndrome (subtype)", "Hurler-Scheie syndrome (subtype)", "IDUA deficiency", "MPS 1", "MPS I", "Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)", "attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)", "mucopolysaccharidosis I", "severe MPS I (subtype, also known as Hurler syndrome)" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)." }, "child_count": 9, "reference_id": "MONDO:0001586" }, { "id": 4032, "label": "lacrimal apparatus disorder", "isLeaf": false, "isRoot": false, "parents": [ 2924, 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1400", "EFO:0009455", "ICD9:375", "ICD9:375.69", "ICD9:375.89", "ICD9:375.9", "MEDGEN:5994", "MESH:D007766", "NCIT:C26809", "SCTID:31053003", "UMLS:C0022904" ], "synonyms": [ "disease of lacrimal apparatus", "disease or disorder of lacrimal apparatus", "disorder of lacrimal apparatus", "disorder of lacrimal system", "lacrimal apparatus disease", "lacrimal apparatus disease or disorder", "lacrimal system disease", "lacrimal system disorder", "lachrymal system disorders" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus." }, "child_count": 34, "reference_id": "MONDO:0001854" }, { "id": 4157, "label": "Foster-Kennedy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14555", "EFO:1001330", "ICD10CM:H47.14", "ICD9:377.04", "MEDGEN:57505", "SCTID:87764000", "UMLS:C0152112", "icd11.foundation:288363660" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An eye disorder characterized by an insidious reduction in vision in one eye, accompanied by clinically significant papilledema in the fellow eye. The unilateral loss of vision and optic atrophy is due to compressive optic atrophy, which causes elevated intracranial pressure that leads to swelling in the fellow eye." }, "child_count": 0, "reference_id": "MONDO:0001998" }, { "id": 4418, "label": "anterior dislocation of lens", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2460", "ICD10CM:H27.12", "ICD9:379.33", "MEDGEN:509941", "SCTID:37283009", "UMLS:C0155372", "icd11.foundation:2072438249" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0002310" }, { "id": 4712, "label": "uveal disorder", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3480", "MEDGEN:21804", "MESH:D014603", "NCIT:C26908", "SCTID:95678007", "UMLS:C0042161" ], "synonyms": [ "disease of uvea", "disease or disorder of uvea", "disorder of uvea", "uvea disease", "uvea disease or disorder", "uveal disease", "uveal disorder", "uveal tract disease", "disorder of uveal tract", "uveal diseases" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma." }, "child_count": 4, "reference_id": "MONDO:0002661" }, { "id": 5315, "label": "eyelid disorder", "isLeaf": false, "isRoot": false, "parents": [ 2924, 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:530", "EFO:0009547", "ICD10CM:H00", "ICD9:374.89", "ICD9:374.9", "MEDGEN:41938", "MESH:D005141", "NCIT:C26768", "SCTID:60113004", "UMLS:C0015423" ], "synonyms": [ "disease of eyelid", "disease or disorder of eyelid", "disorder of eyelid", "eyelid disease", "eyelid disease or disorder", "eyelid disorder" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A disease involving the eyelid." }, "child_count": 40, "reference_id": "MONDO:0003382" }, { "id": 6202, "label": "ocular hypotension", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:790", "ICD10CM:H44.4", "ICD9:360.3", "ICD9:360.30", "MEDGEN:10424", "MESH:D015814", "SCTID:19721008", "UMLS:C0028841" ], "synonyms": [ "hypotony of eye" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Abnormally low intraocular pressure often related to chronic inflammation (uveitis)." }, "child_count": 2, "reference_id": "MONDO:0004390" }, { "id": 6529, "label": "scotoma", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9335", "HP:0000575", "ICD10CM:H53.42", "ICD9:368.42", "ICD9:368.43", "ICD9:368.44", "ICD9:368.45", "MEDGEN:19902", "MESH:D012607", "UMLS:C0036454" ], "synonyms": [ "enlarged blind spot", "generalised visual field contraction or constriction", "scotoma", "scotoma (disease)", "scotoma of blind spot area" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions." }, "child_count": 0, "reference_id": "MONDO:0004758" }, { "id": 6540, "label": "exophthalmos", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9370", "HP:0000520", "ICD9:376.30", "MEDGEN:41917", "MESH:D005094", "NCIT:C118763", "SCTID:18265008", "UMLS:C0015300" ], "synonyms": [ "exophthalmos", "exophthalmos (disease)", "proptosis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "The anterior displacement of the eye within the orbit, giving a bulging appearance." }, "child_count": 0, "reference_id": "MONDO:0004770" }, { "id": 6617, "label": "ophthalmia nodosa", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9722", "ICD10CM:H16.24", "ICD9:360.14", "MEDGEN:509654", "SCTID:12371008", "UMLS:C0154775", "icd11.foundation:691596189" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0004861" }, { "id": 6639, "label": "eye degenerative disorder", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9799", "ICD10CM:H44.5", "ICD9:360.2", "ICD9:360.20", "ICD9:360.29", "ICD9:360.4", "ICD9:360.40", "MEDGEN:509655", "SCTID:62585004", "UMLS:C0154777" ], "synonyms": [ "degenerative disorder of eye", "eye neurodegenerative disease", "eyeball of camera-type eye neurodegenerative disease", "neurodegenerative disease of eyeball of camera-type eye", "degenerative disorder of globe" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A neurodegenerative disease that involves the eye." }, "child_count": 9, "reference_id": "MONDO:0004884" }, { "id": 6646, "label": "refractive error", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9835", "MEDGEN:20508", "MESH:D012030", "SCTID:39021009", "UMLS:C0034951" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia." }, "child_count": 7, "reference_id": "MONDO:0004892" }, { "id": 6774, "label": "glaucoma", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1686", "HP:0000501", "ICD10CM:H40", "ICD10CM:H40-H42", "ICD10WHO:H40", "ICD10WHO:H40-H42", "ICD9:365", "ICD9:365.89", "ICD9:365.9", "MEDGEN:42224", "MESH:D005901", "NCIT:C26782", "SCTID:23986001", "UMLS:C0017601", "icd11.foundation:499924848" ], "synonyms": [ "glaucoma", "glaucoma (disease)" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." }, "child_count": 11, "reference_id": "MONDO:0005041" }, { "id": 6979, "label": "retinal disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799, 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5679", "EFO:0003839", "HGNC:8002", "ICD9:362.89", "ICD9:362.9", "MEDGEN:11209", "MESH:D012164", "NCIT:C26875", "NCIT:C62601", "SCTID:29555009", "UMLS:C0035309" ], "synonyms": [ "eye disease of retina", "retina eye disease", "retinopathy" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any disease or disorder of the retina." }, "child_count": 64, "reference_id": "MONDO:0005283" }, { "id": 7201, "label": "eye allergy", "isLeaf": false, "isRoot": false, "parents": [ 6969, 7019 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0005751", "MEDGEN:1843485", "UMLS:C0852875" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An allergic disease involving a pathogenic inflammatory response in the camera-type eye." }, "child_count": 4, "reference_id": "MONDO:0005551" }, { "id": 7202, "label": "ocular vascular disorder", "isLeaf": false, "isRoot": false, "parents": [ 7019, 7065 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0005753", "MEDGEN:182689", "NCIT:C35664", "UMLS:C0948522" ], "synonyms": [ "disease of vasculature of eye", "disease or disorder of vasculature of eye", "disorder of vasculature of eye", "ocular vascular disorder", "vasculature of eye disease", "vasculature of eye disease or disorder" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A disorder that is caused by pathologic changes in the ocular vasculature." }, "child_count": 6, "reference_id": "MONDO:0005552" }, { "id": 7490, "label": "optic neuritis", "isLeaf": false, "isRoot": false, "parents": [ 4268, 6880, 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1210", "EFO:0007405", "GARD:0027731", "ICD10CM:H46", "ICD10WHO:H46", "ICD9:377.3", "ICD9:377.30", "ICD9:377.39", "MEDGEN:18181", "MESH:D009902", "NCIT:C84950", "SCTID:66760008", "UMLS:C0029134", "icd11.foundation:210935787" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated." }, "child_count": 15, "reference_id": "MONDO:0005885" }, { "id": 7730, "label": "conjunctival disorder", "isLeaf": false, "isRoot": false, "parents": [ 2924, 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4251", "EFO:1000203", "ICD10CM:H10-H11", "MEDGEN:3207", "NCIT:C27605", "UMLS:C0009759" ], "synonyms": [ "conjunctiva disease", "conjunctiva disease or disorder", "conjunctival disease", "conjunctival disorder", "disease of conjunctiva", "disease or disorder of conjunctiva", "disorder of conjunctiva" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any disorder of the conjunctiva." }, "child_count": 16, "reference_id": "MONDO:0006170" }, { "id": 8314, "label": "ocular hypertension", "isLeaf": true, "isRoot": false, "parents": [ 6776, 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9282", "EFO:1001069", "ICD10CM:H40.05", "ICD9:365.04", "MEDGEN:10423", "MESH:D009798", "MedDRA:10030043", "SCTID:4210003", "UMLS:C0028840", "icd11.foundation:535283437" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Abnormally high intraocular pressure." }, "child_count": 0, "reference_id": "MONDO:0006875" }, { "id": 8491, "label": "Tietz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 19141, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090002", "GARD:0007772", "ICD9:270.2", "MEDGEN:98213", "MESH:C536919", "OMIM:103500", "Orphanet:42665", "SCTID:403805009", "UMLS:C0391816" ], "synonyms": [ "Tietz albinism-deafness syndrome", "Tietz syndrome", "albinism-deafness of Tietz", "hypopigmentation-deafness syndrome", "hypopigmentation/deafness of Tietz", "TADS" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." }, "child_count": 0, "reference_id": "MONDO:0007077" }, { "id": 8716, "label": "Alagille syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6624, 7019, 16089, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9245", "GARD:0000804", "ICD9:759.89", "MEDGEN:39014", "MESH:D016738", "MedDRA:10053870", "NANDO:1200918", "NANDO:1200919", "NANDO:2200931", "NCIT:C35139", "NORD:748", "OMIMPS:118450", "Orphanet:52", "SCTID:31742004", "UMLS:C0085280", "icd11.foundation:1249656206" ], "synonyms": [ "Alagille syndrome", "Alagille-Watson syndrome", "Arteriohepatic dysplasia", "syndromic bile duct paucity", "Cardiovertebral syndrome", "Hepatofacioneurocardiovertebral syndrome", "Watson Alagille syndrome", "Watson-Miller syndrome", "hepatic ductular hypoplasia", "paucity of interlobular bile ducts" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys." }, "child_count": 15, "reference_id": "MONDO:0007318" }, { "id": 9024, "label": "glaucoma-sleep apnea syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002483", "MEDGEN:330749", "MESH:C564232", "OMIM:137763", "Orphanet:2085", "UMLS:C1842025" ], "synonyms": [ "glaucoma and sleep apnea", "glaucoma sleep apnea" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children)." }, "child_count": 0, "reference_id": "MONDO:0007666" }, { "id": 9279, "label": "Marshall syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 16089, 17206, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111510", "GARD:0006984", "ICD9:759.89", "MEDGEN:82694", "MESH:C536025", "NCIT:C128115", "NORD:1407", "OMIM:154780", "Orphanet:560", "SCTID:33410002", "UMLS:C0265235", "icd11.foundation:1401051186" ], "synonyms": [ "Marshall syndrome", "MRSHS", "deafness, myopia, cataract, saddle nose-Marshall type" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis." }, "child_count": 0, "reference_id": "MONDO:0007949" }, { "id": 9318, "label": "microcornea-glaucoma-absent frontal sinuses syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003637", "MEDGEN:331860", "MESH:C537552", "OMIM:156700", "Orphanet:2536", "UMLS:C1834935" ], "synonyms": [ "hereditary microcornea, glaucoma, and absent frontal sinuses", "microcornea, glaucoma, and absent frontal sinuses" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007992" }, { "id": 9384, "label": "nail-patella syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 7019, 18362 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9467", "GARD:0007160", "ICD9:759.89", "MEDGEN:10257", "MESH:D009261", "MedDRA:10063431", "NANDO:1200967", "NANDO:2200132", "NCIT:C75120", "NORD:1488", "OMIM:161200", "Orphanet:2614", "SCTID:22199006", "UMLS:C0027341", "icd11.foundation:1121867410" ], "synonyms": [ "Fong disease", "NPS 1", "NPS1", "Nail Patella Syndrome", "Turner-Kieser syndrome", "hereditary Osteo-onychodysplasia", "nail-patella syndrome", "onychoosteodysplasia", "osteo-onychodysplasia", "NPS", "arthro-onychodysplasia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies." }, "child_count": 0, "reference_id": "MONDO:0008061" }, { "id": 9428, "label": "oculodentodigital dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7019, 16088, 18360, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060291", "GARD:0007239", "ICD9:759.89", "MEDGEN:167236", "MESH:C563160", "MedDRA:10063691", "NORD:1519", "OMIM:164200", "Orphanet:2710", "SCTID:38215007", "UMLS:C0812437" ], "synonyms": [ "Meyer-Schwickerath syndrome", "ODDD syndrome", "Oculo-Dento-Digital Dysplasia", "oculo-dento-digital dysplasia", "oculodentodigital dysplasia", "oculodentoosseous dysplasia", "odd syndrome", "ODDD", "oculo-dento-digital syndrome", "oculodentodigital syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." }, "child_count": 4, "reference_id": "MONDO:0008111" }, { "id": 9551, "label": "piebaldism", "isLeaf": true, "isRoot": false, "parents": [ 2903, 7019, 19141, 20691, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3263", "GARD:0004344", "ICD9:270.2", "MEDGEN:36361", "MESH:D016116", "NCIT:C85009", "OMIM:172800", "Orphanet:2884", "SCTID:6479008", "UMLS:C0080024", "icd11.foundation:2089421143" ], "synonyms": [ "piebald trait", "piebaldism", "PBT" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." }, "child_count": 0, "reference_id": "MONDO:0008244" }, { "id": 9792, "label": "Sturge-Weber syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 23107, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111563", "GARD:0007706", "ICD9:759.6", "MEDGEN:21361", "MESH:D013341", "MedDRA:10042265", "MedDRA:10057653", "NANDO:1200606", "NANDO:2200830", "NCIT:C3391", "NORD:1741", "OMIM:185300", "Orphanet:3205", "SCTID:19886006", "UMLS:C0038505", "icd11.foundation:1173035836" ], "synonyms": [ "SWS", "Sturge Weber Syndrome", "Sturge Weber syndrome", "Sturge-Weber disease", "Sturge-Weber syndrome", "Sturge-Weber syndrome, somatic, mosaic", "Sturge-Weber-Dimitri syndrome", "Sturge-Weber-Krabbe angiomatosis", "Sturge-Weber-Krabbe syndrome", "encephalofacial angiomatosis", "encephalotrigeminal angiomatosis", "encephalotrigeminal syndrome", "SWS type I - Facial and leptomeningeal angiomas", "SWS type II - Facial angioma alone, no CNS involvement", "SWS type III - isolated leptomeningeal angiomas", "fourth phacomatosis", "leptomeningeal angiomatosis", "meningeal capillary angiomatosis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." }, "child_count": 0, "reference_id": "MONDO:0008501" }, { "id": 10208, "label": "cerebrotendinous xanthomatosis", "isLeaf": true, "isRoot": false, "parents": [ 4666, 7019, 16607, 18952, 19085, 19144, 19712, 19748, 19753, 23512 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4810", "GARD:0005622", "MEDGEN:116041", "MESH:D019294", "NANDO:1200856", "NCIT:C84628", "NORD:915", "OMIM:213700", "Orphanet:909", "SCTID:63246000", "UMLS:C0238052", "icd11.foundation:1556875179" ], "synonyms": [ "CTX", "CTx", "cerebrotendinous xanthomatosis", "cholestanol storage disease", "sterol 27-hydroxylase deficiency", "cerebral cholesterinosis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." }, "child_count": 0, "reference_id": "MONDO:0008948" }, { "id": 10315, "label": "ocular cystinosis", "isLeaf": true, "isRoot": false, "parents": [ 7019, 16813, 19084 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009756", "MEDGEN:419313", "MESH:C535765", "NANDO:1200164", "NANDO:2201236", "OMIM:219750", "Orphanet:411641", "SCTID:25010000", "UMLS:C2931013" ], "synonyms": [ "adult-onset cystinosis", "non-nephropathic cystinosis", "ocular cystinosis", "cystinosis, ADULT NONNEPHROPATHIC", "cystinosis, benign Nonnephropathic", "cystinosis, ocular Nonnephropathic" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations." }, "child_count": 0, "reference_id": "MONDO:0009064" }, { "id": 10782, "label": "alpha-mannosidosis", "isLeaf": false, "isRoot": false, "parents": [ 7019, 19113, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3413", "GARD:0006968", "ICD9:271.8", "MEDGEN:7467", "MESH:D008363", "NANDO:1200126", "NCIT:C84548", "NORD:755", "OMIM:248500", "Orphanet:61", "SCTID:65524005", "UMLS:C0024748", "icd11.foundation:1944256516" ], "synonyms": [ "alpha-mannosidosis", "lysosomal alpha-D-mannosidase deficiency", "mannosidosis, alpha-, types I and II", "Alpha mannosidase B deficiency", "Alpha-mannosidase B deficiency", "MANSA", "lysosomal Alpha-D-mannosidase deficiency", "mannosidosis, ALPHA B, lysosomal", "mannosidosis, alpha B lysosomal" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit." }, "child_count": 9, "reference_id": "MONDO:0009561" }, { "id": 10798, "label": "megalocornea-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003448", "MEDGEN:162904", "MESH:C536143", "NORD:1424", "OMIM:249310", "Orphanet:2479", "SCTID:733522005", "UMLS:C0796086" ], "synonyms": [ "MMR syndrome", "Megalocornea Intellectual Disability Syndrome", "NeuhC$user syndrome", "Neuhäuser syndrome", "megalocornea-intellectual disability syndrome", "Neuhauser syndrome", "megalocornea intellectual disability syndrome", "megalocornea mental retardation syndrome", "megalocornea-mental retardation syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported." }, "child_count": 0, "reference_id": "MONDO:0009577" }, { "id": 10868, "label": "mucolipidosis type IV", "isLeaf": true, "isRoot": false, "parents": [ 7019, 22243 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080490", "GARD:0000094", "GTR:AN1124590", "GTR:AN1125032", "GTR:AN1125033", "GTR:AN1148743", "ICD10CM:E75.11", "MEDGEN:68663", "NCIT:C84896", "NORD:1460", "OMIM:252650", "Orphanet:578", "SCTID:111384001", "SCTID:725296006", "UMLS:C0238286" ], "synonyms": [ "ML 4", "ML IV", "ML4", "MLIV", "Mucolipidosis IV", "mucolipidosis IV", "mucolipidosis type 4", "mucolipidosis type IV", "sialolipidosis", "Berman syndrome", "ganglioside neuraminidase deficiency", "ganglioside sialidase deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A lysosomal disease characterized by psychomotor delay, progressive visual impairment, and achlorhydria." }, "child_count": 0, "reference_id": "MONDO:0009653" }, { "id": 10875, "label": "mucopolysaccharidosis type 6", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7019, 19111, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12800", "GARD:0007095", "MEDGEN:44514", "MESH:D009087", "MedDRA:10056892", "NANDO:1200108", "NANDO:1200109", "NANDO:1200110", "NANDO:2200551", "NCIT:C61264", "NORD:1405", "OMIM:253200", "Orphanet:583", "SCTID:52677002", "SCTID:69463008", "UMLS:C0026709", "icd11.foundation:1288379621" ], "synonyms": [ "ARSB deficiency", "ASB deficiency", "MPS6", "MPSVI", "Maroteaux Lamy Syndrome", "Maroteaux-Lamy disease", "Maroteaux-Lamy syndrome", "N-acetylgalactosamine 4-sulfatase deficiency", "arylsulfatase B deficiency", "mucopolysaccharidosis type VI", "mucopolysaccharidosis type VI (Maroteaux-Lamy)", "Arsb deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopoly-saccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency", "mucopolysaccharidosis VI" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." }, "child_count": 8, "reference_id": "MONDO:0009661" }, { "id": 10947, "label": "Netherton syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019, 7611, 16624, 18207 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050474", "GARD:0007182", "MEDGEN:1802991", "MESH:D056770", "MedDRA:10062909", "NANDO:1200338", "NANDO:1200619", "NANDO:2200993", "NCIT:C84922", "NORD:1290", "OMIM:256500", "Orphanet:634", "SCTID:312514006", "UMLS:C5574950", "icd11.foundation:1797493665" ], "synonyms": [ "Comèl-Netherton syndrome", "Ichthyosis, Netherton Syndrome", "NS", "Netherton syndrome", "bamboo hair syndrome", "Comel-Netherton syndrome", "Netherton disease", "erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE", "neth" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations." }, "child_count": 0, "reference_id": "MONDO:0009735" }, { "id": 10949, "label": "galactosialidosis", "isLeaf": true, "isRoot": false, "parents": [ 7019, 19113, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080540", "GARD:0003953", "ICD9:277.6", "MEDGEN:82779", "MESH:C536411", "NANDO:1200119", "NANDO:2200557", "NCIT:C129928", "OMIM:256540", "Orphanet:351", "SCTID:35691006", "UMLS:C0268233", "icd11.foundation:1838660035" ], "synonyms": [ "Goldberg syndrome", "galactosialidosis", "neuraminidase deficiency with beta-galactosidase deficiency", "GSL", "PPCA deficiency", "cathepsin A deficiency", "cathepsin A deficiency of", "lysosomal protective Protein deficiency", "lysosomal protective protein deficiency of", "neuraminidase/Beta-galactosidase expression", "protective Protein/Cathepsin a deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." }, "child_count": 0, "reference_id": "MONDO:0009737" }, { "id": 10966, "label": "Niemann-Pick disease type A", "isLeaf": true, "isRoot": false, "parents": [ 7019, 7611, 24190 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070111", "GARD:0007206", "ICD10CM:E75.240", "MEDGEN:78650", "MESH:D052536", "NANDO:1200061", "NANDO:2201206", "NCIT:C126561", "OMIM:257200", "Orphanet:77292", "SCTID:52165006", "UMLS:C0268242", "icd11.foundation:530611243" ], "synonyms": [ "Niemann-PICK disease, type A", "Niemann-Pick disease, Intermediate, protracted neurovisceral", "sphingomyelin lipidosis", "sphingomyelinase deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." }, "child_count": 0, "reference_id": "MONDO:0009756" }, { "id": 10974, "label": "ocular motor apraxia, Cogan type", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080849", "GARD:0000016", "MEDGEN:154254", "MESH:C537423", "NORD:1517", "OMIM:257550", "Orphanet:1125", "SCTID:405809000", "UMLS:C0543874" ], "synonyms": [ "oculomotor apraxia, Cogan type", "oculomotor apraxia, congenital, Cogan-type", "COMA", "Cogan syndrome type 2", "Cogan's syndrome type 2", "congenital oculomotor apraxia", "ocular motor apraxia", "oculomotor apraxia Cogan type", "saccade initiation failure congenital", "saccade initiation failure, congenital" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type." }, "child_count": 0, "reference_id": "MONDO:0009764" }, { "id": 11059, "label": "Peters plus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019, 16087, 16198, 17976, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070312", "DOID:0080201", "GARD:0008422", "ICD9:743.44", "MEDGEN:163204", "MESH:C537617", "NCIT:C123436", "OMIM:261540", "Orphanet:709", "SCTID:449817000", "UMLS:C0796012" ], "synonyms": [ "Krause-Kivlin syndrome", "Krause-van Schooneveld-Kivlin syndrome", "Peters anomaly with short limb dwarfism", "Peters-plus syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism." }, "child_count": 0, "reference_id": "MONDO:0009856" }, { "id": 11072, "label": "isolated Pierre-Robin syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004347", "MEDGEN:19310", "MESH:D010855", "NCIT:C85010", "NORD:1579", "OMIM:261800", "Orphanet:718", "SCTID:4602007", "UMLS:C0031900", "icd11.foundation:136361299" ], "synonyms": [ "Pierre Robin Sequence", "isolated Pierre Robin sequence", "Pierre Robin syndrome skeletal dysplasia polydactyly", "glossoptosis, micrognathia, and cleft palate" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft." }, "child_count": 1, "reference_id": "MONDO:0009869" }, { "id": 11196, "label": "ectodermal dysplasia-blindness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002045", "MEDGEN:340297", "MESH:C535865", "OMIM:268320", "Orphanet:1806", "UMLS:C1849332" ], "synonyms": [ "RODRIGUES blindness", "microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities", "microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0010001" }, { "id": 11201, "label": "Sandhoff disease", "isLeaf": false, "isRoot": false, "parents": [ 7019, 17953, 19748, 19753 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3323", "GARD:0002521", "ICD10CM:E75.01", "MEDGEN:11313", "MESH:D012497", "NANDO:1200072", "NANDO:2201200", "NCIT:C85052", "NORD:1688", "OMIM:268800", "Orphanet:796", "SCTID:23849003", "UMLS:C0036161", "icd11.foundation:708581915" ], "synonyms": [ "GM2 gangliosidosis 0 variant", "GM2 gangliosidosis, 0 variant", "Hexosaminidases A and B deficiency", "Sandhoff Jatzkewitz disease", "Sandhoff disease", "Sandhoff disease, adult form", "Sandhoff disease, infantile form", "Sandhoff disease, juvenile form" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration." }, "child_count": 12, "reference_id": "MONDO:0010006" }, { "id": 11220, "label": "SHORT syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019, 16088, 16089, 16198, 19731, 29311 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111454", "GARD:0007633", "MEDGEN:164212", "MESH:C537327", "NORD:1710", "OMIM:269880", "Orphanet:3163", "UMLS:C0878684", "icd11.foundation:1264512044" ], "synonyms": [ "Aarskog-Ose-Pande syndrome", "Rieger anomaly-partial lipodystrophy syndrome", "SHORT syndrome", "lipodystrophy-Rieger anomaly-diabetes syndrome", "short syndrome", "lipodystrophy, partial, with Rieger anomaly and short stature", "partial lipodystrophy with Rieger anomaly and short stature", "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay", "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt." }, "child_count": 0, "reference_id": "MONDO:0010026" }, { "id": 11225, "label": "Sjogren-Larsson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 7019, 7611, 16607, 18270, 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14501", "GARD:0007654", "MEDGEN:11443", "MESH:D016111", "MedDRA:10048676", "NANDO:1200620", "NANDO:2200994", "NCIT:C85070", "NORD:1377", "OMIM:270200", "Orphanet:816", "SCTID:111303009", "UMLS:C0037231", "icd11.foundation:418359090" ], "synonyms": [ "SLS", "Senior-Løken Syndrome", "Sjogren-Larsson syndrome", "fatty acid alcohol oxidoreductase deficiency", "FADH deficiency", "FALDH deficiency", "FAO deficiency", "Sjögren-Larsson syndrome", "fatty alcohol:NAD+ oxidoreductase deficiency", "fatty aldehyde dehydrogenase deficiency", "ichthyosis, spastic neurologic disorder, and oligophrenia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity." }, "child_count": 0, "reference_id": "MONDO:0010031" }, { "id": 11228, "label": "Smith-Lemli-Opitz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 16087, 16607, 23513 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14692", "GARD:0005683", "ICD10CM:E78.72", "ICD9:759.89", "MEDGEN:61231", "MESH:D019082", "NANDO:1200961", "NANDO:2200979", "NCIT:C85071", "NORD:1724", "OMIM:270400", "Orphanet:818", "SCTID:43929004", "UMLS:C0175694", "icd11.foundation:1231469858" ], "synonyms": [ "7-dehydrocholesterol reductase deficiency", "RSH syndrome", "Rutledge lethal multiple congenital anomaly syndrome", "SLO syndrome", "SLOS", "Smith-Lemli-Opitz syndrome", "Smith Lemli Opitz syndrome", "lethal acrodysgenital syndrome", "polydactyly, sex reversal, renal hypoplasia, and unilobar lung", "polydactyly, sex reversal, renal hypoplasia, and unilobular lung" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems." }, "child_count": 0, "reference_id": "MONDO:0010035" }, { "id": 11287, "label": "Tay-Sachs disease", "isLeaf": false, "isRoot": false, "parents": [ 7019, 17953, 19748, 19753 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3320", "GARD:0007737", "ICD10CM:E75.02", "MEDGEN:11713", "MESH:D013661", "MedDRA:10043147", "NANDO:1200071", "NANDO:2201199", "NCIT:C85184", "NORD:1761", "OMIM:272800", "Orphanet:845", "SCTID:111385000", "SCTID:49562005", "UMLS:C0039373", "icd11.foundation:215008783" ], "synonyms": [ "GM2 gangliosidosis, B, B1 variant", "GM2-gangliosidosis, several forms", "Hex A pseudodeficiency", "Tay Sachs Disease", "Tay-Sachs disease", "disease, Tay-Sachs", "hexosaminidase A deficiency", "B variant GM2 gangliosidosis", "B variant GM2-gangliosidosis", "GM2 gangliosidosis, type 1", "GM2-gangliosidosis, adult chronic type", "GM2-gangliosidosis, type 1", "GM2-gangliosidosis, variant B1", "TAY-Sachs disease", "TSD", "Tay-Sachs disease, juvenile", "Tay-Sachs disease, pseudo-Ab variant", "Tay-Sachs disease, variant B1", "gangliosidosis GM2, type 1", "hexa deficiency", "hexosaminidase a deficiency", "hexosaminidase a deficiency, adult type", "hexosaminidase alpha-subunit deficiency (variant B)", "sphingolipidosis, Tay-Sachs" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency." }, "child_count": 16, "reference_id": "MONDO:0010100" }, { "id": 11342, "label": "tyrosinemia type II", "isLeaf": true, "isRoot": false, "parents": [ 6513, 7019, 17919 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050725", "GARD:0003105", "MEDGEN:75687", "MedDRA:10069463", "NANDO:1200789", "NANDO:2200469", "NCIT:C129032", "OMIM:276600", "Orphanet:28378", "SCTID:4887000", "UMLS:C0268487", "icd11.foundation:1900229795" ], "synonyms": [ "Richner-Hanhart syndrome", "keratosis palmoplantaris-corneal dystrophy syndrome", "oculocutaneous tyrosinemia", "tyrosinemia due to TAT deficiency", "tyrosinemia due to tyrosine aminotransferase deficiency", "tyrosinemia type II", "Oregon type tyrosinemia", "Richner Hanhart syndrome", "TYRSN2", "Tat deficiency", "Tyrosinosis oculocutaneous type", "Tyrosinosis, oculocutaneous type", "keratosis palmoplantaris with corneal dystrophy", "tyrosine aminotransferase deficiency", "tyrosine transaminase deficiency", "tyrosinemia type 2", "tyrosinemia, type 2", "tyrosinemia, type II" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0010160" }, { "id": 11473, "label": "Ito hypomelanosis", "isLeaf": true, "isRoot": false, "parents": [ 7019, 19138, 19141 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3156", "GARD:0002992", "MEDGEN:5920", "NORD:1274", "OMIM:300337", "Orphanet:435", "UMLS:C0022283" ], "synonyms": [ "Hypomelanosis of Ito", "Incontinentia pigmenti type 1", "Ito hypomelanosis", "hi syndrome", "hypomelanosis of Ito", "pigmentary mosaicism, Ito type", "HMI", "IPA", "Incontinentia pigmenti achromians", "Incontinentia pigmenti type 1 (formerly)", "Incontinentia pigmenti, type I", "Incontinentia pigmenti, type I, formerly", "Ito" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines." }, "child_count": 0, "reference_id": "MONDO:0010302" }, { "id": 11605, "label": "X-linked cone dysfunction syndrome with myopia", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016782", "MEDGEN:463611", "MESH:C564092", "OMIM:300843", "Orphanet:90001", "SCTID:718718009", "UMLS:C3159311", "icd11.foundation:290885874" ], "synonyms": [ "Bornholm eye disease", "Bornholm eye disease, X-linked recessive", "BORNHOLM eye disease", "bed", "myopia, high, with nonprogressive cone dysfunction" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28." }, "child_count": 0, "reference_id": "MONDO:0010446" }, { "id": 11719, "label": "red color blindness", "isLeaf": true, "isRoot": false, "parents": [ 3891, 7019, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13910", "EFO:0005580", "ICD10CM:H53.54", "ICD9:368.51", "MEDGEN:56350", "OMIM:303900", "Orphanet:319691", "SCTID:51445007", "UMLS:C0155015" ], "synonyms": [ "colorblindness, protan", "partial achromatopsia, protan type", "protan defect", "protanopia", "red color blindness", "CBP", "colorblindness, partial, protan series", "protanomaly", "red colorblindness" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." }, "child_count": 0, "reference_id": "MONDO:0010565" }, { "id": 11791, "label": "oculocerebrorenal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019, 16626, 19084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1056", "GARD:0003295", "ICD9:270.8", "MEDGEN:18145", "MESH:D009800", "MedDRA:10051707", "NANDO:2100028", "NANDO:2200188", "NCIT:C84940", "NORD:1379", "OMIM:309000", "Orphanet:534", "SCTID:79385002", "UMLS:C0028860", "icd11.foundation:1392767390" ], "synonyms": [ "Lowe disease", "Lowe oculo-cerebro-renal syndrome", "Lowe oculocerebrorenal syndrome", "Lowe syndrome", "Lowe syndrome, X-linked recessive", "OCR", "OCRL", "oculo-cerebro-renal dystrophy", "oculo-cerebro-renal syndrome", "oculocerebrorenal dystrophy", "oculocerebrorenal syndrome", "oculocerebrorenal syndrome of Lowe", "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency", "Ocrl1", "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." }, "child_count": 0, "reference_id": "MONDO:0010645" }, { "id": 11986, "label": "Lowry-MacLean syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 16087, 16201 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003300", "MEDGEN:167095", "MESH:C537037", "OMIM:600252", "Orphanet:2409", "SCTID:721974000", "UMLS:C0796020", "icd11.foundation:698387769" ], "synonyms": [ "Lowry-MacLean syndrome", "Lowry MacLean syndrome", "intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure", "mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." }, "child_count": 0, "reference_id": "MONDO:0010851" }, { "id": 12029, "label": "pigment dispersion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060680", "GARD:0004356", "MEDGEN:220866", "MESH:C563184", "NCIT:C187288", "OMIM:600510", "Orphanet:26823", "SCTID:392133001", "UMLS:C1271398" ], "synonyms": [ "glaucoma-related pigment dispersion syndrome", "pigment dispersion syndrome", "GPDS1", "glaucoma, pigment-dispersion type", "glaucoma-RELATED pigment dispersion syndrome", "pigment-dispersion syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed." }, "child_count": 0, "reference_id": "MONDO:0010896" }, { "id": 12082, "label": "hereditary hyperferritinemia with congenital cataracts", "isLeaf": true, "isRoot": false, "parents": [ 5714, 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111256", "GARD:0002806", "ICD9:289.89", "ICD9:366.44", "MEDGEN:318812", "MESH:C538137", "NORD:1264", "OMIM:600886", "Orphanet:163", "SCTID:702398007", "UMLS:C1833213" ], "synonyms": [ "HHCS", "Hyperferritinemia Cataract Syndrome", "hereditary hyperferritinemia-cataract syndrome", "HRFTC", "cataract-hyperferritinemia syndrome", "hereditary hyperferritinemia cataract syndrome", "hyperferritinemia cataract syndrome", "hyperferritinemia with or without cataract", "hyperferritinemia, hereditary, with congenital cataracts", "hyperferritinemia-cataract syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload." }, "child_count": 0, "reference_id": "MONDO:0010952" }, { "id": 12235, "label": "dyssegmental dysplasia-glaucoma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:330382", "MESH:C563290", "OMIM:601561", "Orphanet:1804", "UMLS:C1832111" ], "synonyms": [ "dyssegmental dysplasia and glaucoma", "dyssegmental dysplasia with glaucoma" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children." }, "child_count": 0, "reference_id": "MONDO:0011110" }, { "id": 13530, "label": "mevalonic aciduria", "isLeaf": true, "isRoot": false, "parents": [ 7019, 17945 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050452", "GARD:0003588", "MEDGEN:368373", "MedDRA:10072219", "NANDO:1200866", "NCIT:C84890", "OMIM:610377", "Orphanet:29", "SCTID:718558008", "UMLS:C1959626", "icd11.foundation:572875152" ], "synonyms": [ "HIDS", "MKD", "MVA", "complete mevalonate kinase deficiency", "hyperimmunoglobulin D with periodic fever syndrome", "mevalonic aciduria", "MEVA", "Mevalonicaciduria" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes." }, "child_count": 0, "reference_id": "MONDO:0012481" }, { "id": 13727, "label": "familial cavitary optic disk anomaly", "isLeaf": true, "isRoot": false, "parents": [ 5714, 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017822", "MEDGEN:370593", "MESH:C566924", "OMIM:611543", "Orphanet:464760", "UMLS:C1969063" ], "synonyms": [ "familial CODA", "CODA", "cavitary optic DISC anomalies" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0012687" }, { "id": 13947, "label": "blindness - scoliosis - arachnodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 19507 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017070", "MEDGEN:436640", "MESH:C567309", "OMIM:612445", "Orphanet:171844", "SCTID:717920004", "UMLS:C2676234" ], "synonyms": [ "scoliosis, arachnodactyly, and blindness" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes." }, "child_count": 0, "reference_id": "MONDO:0012907" }, { "id": 15509, "label": "fatty acyl-CoA reductase 1 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 7019, 19476, 24013 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081243", "GARD:0013319", "MEDGEN:863781", "OMIM:616154", "Orphanet:438178", "UMLS:C4015344" ], "synonyms": [ "FAR1 deficiency", "fatty acyl-CoA reductase 1 deficiency", "fatty acyl-CoA reductase 1 disorder", "fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency", "rhizomelic chondrodysplasia punctata type 4", "severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency", "severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency", "severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder", "PFCRD", "peroxisomal fatty acyl-CoA reductase 1 disorder" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rhizomelic chondrodysplasia punctate that has material basis in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency." }, "child_count": 0, "reference_id": "MONDO:0014510" }, { "id": 15692, "label": "microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017804", "MEDGEN:895574", "OMIM:616577", "Orphanet:457351", "UMLS:C4225276" ], "synonyms": [ "microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome", "neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities", "EHLMRS", "epilepsy, hearing loss, and intellectual disability syndrome", "epilepsy, hearing loss, and mental retardation syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0014698" }, { "id": 16171, "label": "neurotrophic keratopathy", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019878", "MEDGEN:87384", "MedDRA:10069732", "Orphanet:137596", "SCTID:128080005", "UMLS:C0339296", "icd11.foundation:1257534118" ], "synonyms": [ "neurotrophic keratitis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision." }, "child_count": 0, "reference_id": "MONDO:0015290" }, { "id": 16296, "label": "Cogan syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3003, 7019 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060216", "GARD:0001421", "MEDGEN:82871", "MESH:D055952", "MedDRA:10056667", "Orphanet:1467", "SCTID:405810005", "UMLS:C0271270", "icd11.foundation:2098089327" ], "synonyms": [ "Cogan syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases." }, "child_count": 0, "reference_id": "MONDO:0015453" }, { "id": 16395, "label": "atopic keratoconjunctivitis", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020053", "ICD9:370.49", "MEDGEN:698110", "MedDRA:10069664", "Orphanet:163934", "SCTID:403434009", "UMLS:C1274788", "icd11.foundation:1941631830" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis." }, "child_count": 0, "reference_id": "MONDO:0015599" }, { "id": 16532, "label": "rhizomelic chondrodysplasia punctata", "isLeaf": false, "isRoot": false, "parents": [ 7019, 18162, 19476 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2580", "GARD:0013160", "ICD10CM:E71.540", "MEDGEN:79471", "MESH:D018902", "NCIT:C85047", "OMIMPS:215100", "Orphanet:177", "SCTID:56692003", "UMLS:C0282529", "icd11.foundation:260357080" ], "synonyms": [ "RCDP", "rhizomelic chondrodysplasia punctata", "rhizomelic chondrodysplasia punctata syndrome", "rhizomelic dwarfism" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth." }, "child_count": 12, "reference_id": "MONDO:0015776" }, { "id": 16644, "label": "Ehlers-Danlos syndrome, kyphoscoliotic type 1", "isLeaf": true, "isRoot": false, "parents": [ 7019, 7611, 19720, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080734", "GARD:0022216", "MEDGEN:75672", "MESH:C536198", "NANDO:1200649", "NANDO:2201259", "NCIT:C125700", "OMIM:225400", "Orphanet:1900", "SCTID:718211004", "UMLS:C0268342" ], "synonyms": [ "EDS 6", "EDS, kyphoscoliotic type", "EDS, oculoscoliotic type", "EDS6", "Ehlers-Danlos syndrome kyphoscoliotic type", "Ehlers-Danlos syndrome, kyphoscoliotic type", "Ehlers-Danlos syndrome, kyphoscoliotic type 1", "Ehlers-Danlos syndrome, oculoscoliotic type", "Ehlers-Danlos syndrome, type 6", "kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency", "nevo syndrome", "EDS VIA", "Ehlers-Danlos syndrome type 6A", "Ehlers-Danlos syndrome, type VIA", "Ehlers-Danlos syndrome, type VIA, formerly", "Ehlers-Danlos syndrome, type Via", "Ehlers-Danlos syndrome, type Via, formerly", "EDS 6 (formerly)", "EDS VI", "EDS6A, formerly", "EDSKSCL1", "Ehlers-Danlos syndrome oculoscoliotic type", "Ehlers-Danlos syndrome type 6 (formerly)", "Ehlers-Danlos syndrome type 6A (formerly)", "Ehlers-Danlos syndrome, kyphoscoliosis type", "Ehlers-Danlos syndrome, kyphoscoliotic type, 1", "Ehlers-Danlos syndrome, ocular-scoliotic type", "Ehlers-Danlos syndrome, type 6 A", "Ehlers-Danlos syndrome, type VI", "kEDS", "kyphoscoliotic EDS", "kyphoscoliotic Ehlers-Danlos syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility." }, "child_count": 0, "reference_id": "MONDO:0016002" }, { "id": 16789, "label": "IRVAN syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012868", "MEDGEN:1435227", "Orphanet:209943", "UMLS:C3665812", "icd11.foundation:498393228" ], "synonyms": [ "idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome", "idiopathic retinal-aneurysms-neuroretinitis syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0016205" }, { "id": 16901, "label": "Rothmund-Thomson syndrome type 2", "isLeaf": true, "isRoot": false, "parents": [ 7019, 11197 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017135", "MEDGEN:1684753", "NCIT:C178827", "OMIM:268400", "Orphanet:221016", "UMLS:C5203410", "icd11.foundation:2111040755" ], "synonyms": [ "RTS2", "Rothmund-Thomson syndrome, type 2", "poikiloderma of Rothmund-Thomson type 2" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." }, "child_count": 0, "reference_id": "MONDO:0016369" }, { "id": 17207, "label": "microcornea-corectopia-macular hypoplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:444078", "MESH:C537551", "Orphanet:2535", "UMLS:C2931531" ], "synonyms": [ "microcornea corectopia macular hypoplasia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Microcornea-corectopia-macular hypoplasia syndrome is characterized by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family." }, "child_count": 0, "reference_id": "MONDO:0016762" }, { "id": 17209, "label": "isolated anophthalmia-microphthalmia syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012085", "MEDGEN:1826144", "Orphanet:2542", "UMLS:C5679828" ], "synonyms": [ "MAC spectrum", "microphthalmia-anophthalmia-coloboma spectrum", "nonsyndromic anophthalmia-microphthalmia syndrome", "clinical anophthalmia", "isolated anophthalmia - microphthalmia", "isolated pure microphthalmia", "primitive anophthalmia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit." }, "child_count": 9, "reference_id": "MONDO:0016764" }, { "id": 17543, "label": "Spasmus nutans", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021058", "HP:0010533", "MEDGEN:154280", "MedDRA:10059593", "Orphanet:279882", "SCTID:400948003", "UMLS:C0546878", "icd11.foundation:1868433558" ], "synonyms": [ "Spasmus nutans", "Spasmus nutans (disease)" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis." }, "child_count": 0, "reference_id": "MONDO:0017201" }, { "id": 17546, "label": "toxic maculopathy due to antimalarial drugs", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1636117", "Orphanet:279894", "SCTID:763621004", "UMLS:C4706522" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss." }, "child_count": 0, "reference_id": "MONDO:0017204" }, { "id": 17593, "label": "syndromic recessive X-linked ichthyosis", "isLeaf": true, "isRoot": false, "parents": [ 7019, 17598 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017302", "MEDGEN:904038", "Orphanet:281090", "SCTID:717041008", "UMLS:C4274085" ], "synonyms": [ "recessive X-linked ichthyosis with extracutaneous manifestations", "syndrome associated with recessive X-linked ichthyosis", "syndromic RXLI", "syndromic X-linked ichthyosis", "syndromic recessive X-linked ichthyosis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome." }, "child_count": 0, "reference_id": "MONDO:0017264" }, { "id": 17620, "label": "acute zonal occult outer retinopathy", "isLeaf": true, "isRoot": false, "parents": [ 7019, 20092 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008640", "ICD9:362.10", "MEDGEN:196452", "MESH:C538223", "Orphanet:284454", "SCTID:312929003", "UMLS:C0730298", "icd11.foundation:2011657601" ], "synonyms": [ "AZOOR" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy." }, "child_count": 0, "reference_id": "MONDO:0017298" }, { "id": 17621, "label": "acute annular outer retinopathy", "isLeaf": true, "isRoot": false, "parents": [ 7019, 20092 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021121", "MEDGEN:1684428", "Orphanet:284460", "UMLS:C5191002" ], "synonyms": [ "AAOR" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0017299" }, { "id": 17637, "label": "phakomatosis pigmentovascularis", "isLeaf": false, "isRoot": false, "parents": [ 7019, 19140, 19507, 23107 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004312", "ICD9:709.09", "MEDGEN:220888", "MESH:C537894", "Orphanet:2875", "SCTID:403545005", "UMLS:C1274879", "icd11.foundation:1768130414" ], "synonyms": [ "phakomatosis pigmentovascularis", "port-wine stain with oculocutaneous melanosis", "PPv", "Phacomatosis pigmentovascularis", "association of cutaneous vascular malformations and different pigmentary disorders" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 12, "reference_id": "MONDO:0017318" }, { "id": 18001, "label": "lamellar ichthyosis", "isLeaf": false, "isRoot": false, "parents": [ 7019, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010803", "ICD10CM:Q80.2", "MEDGEN:1852191", "MedDRA:10023686", "NANDO:1200617", "NCIT:C84805", "NORD:1289", "Orphanet:313", "UMLS:C5848247", "icd11.foundation:600146417" ], "synonyms": [ "LI", "classic lamellar ichthyosis", "congenital lamellar ichthyosis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." }, "child_count": 12, "reference_id": "MONDO:0017778" }, { "id": 18012, "label": "idiopathic linear interstitial keratitis", "isLeaf": true, "isRoot": false, "parents": [ 7019, 24405 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021365", "MEDGEN:1653609", "Orphanet:314017", "UMLS:C4751438" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated." }, "child_count": 0, "reference_id": "MONDO:0017789" }, { "id": 18084, "label": "chondroectodermal dysplasia with night blindness", "isLeaf": true, "isRoot": false, "parents": [ 7019, 18360, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021408", "MEDGEN:1641815", "Orphanet:319195", "UMLS:C4706300" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates." }, "child_count": 0, "reference_id": "MONDO:0017869" }, { "id": 18269, "label": "galactosemia", "isLeaf": false, "isRoot": false, "parents": [ 7019, 17930 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9870", "GARD:0002424", "ICD10CM:E74.21", "ICD9:271.1", "MEDGEN:8943", "MESH:D005693", "MedDRA:10017604", "NCIT:C84723", "NORD:1170", "OMIMPS:230400", "Orphanet:352", "SCTID:190745006", "UMLS:C0016952" ], "synonyms": [ "galactosemia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form." }, "child_count": 8, "reference_id": "MONDO:0018116" }, { "id": 18294, "label": "GM1 gangliosidosis", "isLeaf": false, "isRoot": false, "parents": [ 7019, 7061, 17952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3322", "GARD:0010891", "ICD9:277.6", "MEDGEN:43107", "MESH:D016537", "NANDO:1200066", "NANDO:2200558", "NCIT:C84739", "Orphanet:354", "SCTID:124465002", "SCTID:238025006", "UMLS:C0085131", "icd11.foundation:401105928" ], "synonyms": [ "Beta-galactosidase-1 deficiency", "GLB1 deficiency", "GM>1< gangliosidosis", "Landing disease", "Landing syndrome", "gangliosidosis GM1", "Beta galactosidase 1 deficiency", "Beta-galactosidosis", "GLB 1 deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." }, "child_count": 9, "reference_id": "MONDO:0018149" }, { "id": 18295, "label": "Gaucher disease", "isLeaf": false, "isRoot": false, "parents": [ 7019, 19116 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1926", "GARD:0008233", "ICD10CM:E75.22", "MEDGEN:42164", "MESH:D005776", "MedDRA:10018048", "NANDO:1200056", "NANDO:2200562", "NCIT:C61268", "NORD:1177", "Orphanet:355", "SCTID:190794006", "UMLS:C0017205", "icd11.foundation:1923566939" ], "synonyms": [ "Gaucher disease", "Gaucher syndrome", "acid beta-glucosidase deficiency", "glucocerebrosidase deficiency", "glucocerebrosidosis", "glucosylceramidase deficiency", "glucosylceramide beta-glucosidase deficiency", "lipoid histiocytosis (kerasin type)", "acute cerebral Gaucher disease", "Gaucher splenomegaly", "cerebroside lipidosis syndrome", "glucosyl cerebroside lipidosis", "kerasin histiocytosis", "kerasin lipoidosis", "sphingolipidosis 1" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease)." }, "child_count": 10, "reference_id": "MONDO:0018150" }, { "id": 18524, "label": "visual snow syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012062", "MEDGEN:1661883", "NORD:1929", "Orphanet:420556", "UMLS:C4324662", "icd11.foundation:806322116" ], "synonyms": [ "visual snow" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow." }, "child_count": 0, "reference_id": "MONDO:0018486" }, { "id": 18608, "label": "extensive peripapillary myelinated nerve fibers", "isLeaf": true, "isRoot": false, "parents": [ 4268, 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021842", "MEDGEN:1842279", "Orphanet:440724", "UMLS:C5681187" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0018606" }, { "id": 18666, "label": "IgG4-related ophthalmic disorder", "isLeaf": false, "isRoot": false, "parents": [ 7019, 17611 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021885", "MEDGEN:1800432", "Orphanet:449563", "UMLS:C5569009" ], "synonyms": [ "IgG4-related disease of eye", "eye IgG4-related disease" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A IgG4-related disease that involves the eye." }, "child_count": 2, "reference_id": "MONDO:0018675" }, { "id": 18764, "label": "global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 7019, 16087, 19709 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017871", "MEDGEN:1798945", "Orphanet:480898", "UMLS:C5567522" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia)." }, "child_count": 0, "reference_id": "MONDO:0018822" }, { "id": 18976, "label": "vernal keratoconjunctivitis", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007854", "MEDGEN:9622", "NORD:1826", "Orphanet:70476", "SCTID:317349009", "UMLS:C0022577", "icd11.foundation:670300288" ], "synonyms": [ "Spring catarrh", "Vernal Keratonconjunctivitis", "VKC" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition." }, "child_count": 0, "reference_id": "MONDO:0019085" }, { "id": 19176, "label": "Gardner syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 20298 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006482", "ICD9:759.89", "MEDGEN:6547", "MESH:D005736", "MedDRA:10017727", "NCIT:C6728", "Orphanet:79665", "SCTID:60876000", "UMLS:C0017097", "icd11.foundation:1428130769" ], "synonyms": [ "Gardner syndrome", "Gardner's syndrome", "intestinal polyposis, osteomas, sebaceous cysts", "polyposis coli and multiple hard and soft tissue tumors", "polyposis coli and multiple hard and soft tissue tumours" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors." }, "child_count": 0, "reference_id": "MONDO:0019336" }, { "id": 19321, "label": "anterior segment dysgenesis", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7019, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060648", "GARD:0010025", "ICD9:743.49", "MEDGEN:350766", "NANDO:1201000", "OMIMPS:107250", "Orphanet:88632", "SCTID:65075004", "UMLS:C1862839", "icd11.foundation:1182282997", "icd11.foundation:943599144" ], "synonyms": [ "ASGD", "ASMD", "ASOD", "anterior segment mesenchymal dysgenesis", "anterior segment ocular dysgenesis", "familial ocular anterior segment mesenchymal dysgenesis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis)." }, "child_count": 24, "reference_id": "MONDO:0019503" }, { "id": 19416, "label": "isolated ankyloblepharon filiforme adnatum", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019168", "MEDGEN:227001", "Orphanet:91397", "UMLS:C1302999", "icd11.foundation:1002292151" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Isolated ankyloblepharon filiforme adnatum (AFA) is characterized by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors." }, "child_count": 0, "reference_id": "MONDO:0019626" }, { "id": 19769, "label": "hereditary optic neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019540", "MedDRA:10061323", "Orphanet:98671", "icd11.foundation:2452831" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 8, "reference_id": "MONDO:0020249" }, { "id": 19771, "label": "essential strabismus", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "Orphanet:98682" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0020252" }, { "id": 19829, "label": "Axenfeld anomaly", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016485", "ICD9:743.44", "MEDGEN:78611", "MedDRA:10058653", "Orphanet:98978", "SCTID:204152008", "UMLS:C0266548", "icd11.foundation:1703498511" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies." }, "child_count": 0, "reference_id": "MONDO:0020368" }, { "id": 20431, "label": "eye neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 7019, 7231 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003824", "ICD10CM:C69-C72", "MEDGEN:5095", "NCIT:C3030", "ONCOTREE:EYE", "UMLS:C0015414" ], "synonyms": [ "eye neoplasm (disease)", "eye tumor", "eye tumour", "eyeball of camera-type eye neoplasm", "eyeball of camera-type eye tumor", "eyeball of camera-type eye tumour", "neoplasm of eye", "neoplasm of eyeball of camera-type eye", "neoplasm of the eye", "ocular neoplasm", "ocular tumor", "ocular tumour", "tumor of eye", "tumor of eyeball of camera-type eye", "tumor of the eye", "tumour of eye", "tumour of eyeball of camera-type eye", "tumour of the eye" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A neoplasm (disease) that involves the eye." }, "child_count": 26, "reference_id": "MONDO:0021220" }, { "id": 22741, "label": "isolated blepharochalasis", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022124", "MEDGEN:1801812", "Orphanet:519390", "UMLS:C5681341" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0033809" }, { "id": 22869, "label": "punctate inner choroidopathy", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007503", "ICD10CM:H31.0", "MEDGEN:152679", "Orphanet:580951", "UMLS:C0730321", "icd11.foundation:1322994548" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females." }, "child_count": 0, "reference_id": "MONDO:0035584" }, { "id": 23257, "label": "eye infectious disorder", "isLeaf": false, "isRoot": false, "parents": [ 7019, 7200 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:41934", "MESH:D015817", "NCIT:C45372", "SCTID:128351009", "UMLS:C0015403" ], "synonyms": [ "eye infection", "infection, eye", "infection, ocular", "infections, eye", "infections, ocular", "ocular infection", "ocular infections" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma." }, "child_count": 20, "reference_id": "MONDO:0043885" }, { "id": 23285, "label": "vitreous body disorder", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0008624", "ICD9:379.29", "MEDGEN:56361", "NCIT:C45256", "SCTID:76682005", "UMLS:C0155365" ], "synonyms": [ "disease of vitreous body", "disease or disorder of vitreous body", "disorder of vitreous body", "vitreous body disease", "vitreous body disease or disorder", "vitreous body disorder" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any disease affecting the vitreous body of the eye." }, "child_count": 2, "reference_id": "MONDO:0044137" }, { "id": 23372, "label": "9q33.3q34.11 microdeletion syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 4427, 7019, 16087, 17327 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022009", "MEDGEN:1811810", "Orphanet:495818", "UMLS:C5680085" ], "synonyms": [ "9q33.3-q34.11 microdeletion syndrome", "Del(9)(q33.3q34.11)", "deletion 9q33.3q34.11", "monosomy 9q33.3-q34.11", "monosomy 9q33.3q34.11" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0044641" }, { "id": 23388, "label": "autoimmune/inflammatory optic neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022037", "MEDGEN:1842963", "Orphanet:499047", "UMLS:C5681239" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 5, "reference_id": "MONDO:0044685" }, { "id": 23976, "label": "LTBP2-related ocular dysgenesis", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7019 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene." }, "child_count": 6, "reference_id": "MONDO:0100236" }, { "id": 24305, "label": "ocular growth disorder", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An eye disorder characterized by an aberrant development of the eye resulting in significant shortening or elongation, and therefore affecting the final ocular dimensions." }, "child_count": 7, "reference_id": "MONDO:0100581" }, { "id": 24641, "label": "ocular dysgenesis caused by defects in PAX6 regulation", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any eye disorder in which the cause of the disease is a variant in the PAX6 gene itself or a variant within another locus that results in defective regulation of the PAX6 gene." }, "child_count": 0, "reference_id": "MONDO:0700246" }, { "id": 25089, "label": "choroidal neovascularization", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "HP:0011506", "MEDGEN:154726", "MESH:D020256", "UMLS:C0600518" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An eye disorder described by the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the sub–retinal pigment epithelium (sub-RPE) or subretinal space. Choroidal neovascularization (CNV) is a major cause of visual loss." }, "child_count": 0, "reference_id": "MONDO:0810000" }, { "id": 25092, "label": "anterior segment developmental abnormality with extraocular manifestations", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022084", "MEDGEN:1842782", "Orphanet:519276", "UMLS:C5681394" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0850008" }, { "id": 25094, "label": "congenital optic disk excavation", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022112", "MEDGEN:1842935", "Orphanet:519333", "UMLS:C5681348" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0850010" }, { "id": 25337, "label": "neuroocular syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7019, 24270 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1790414", "OMIMPS:619539", "UMLS:C5551362" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 4, "reference_id": "MONDO:0859193" }, { "id": 26058, "label": "isolated angioid streaks", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027189", "MEDGEN:1864217", "Orphanet:674943", "UMLS:C5925080" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0971126" }, { "id": 26060, "label": "multiple evanescent white dot syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7019, 20399 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027191", "MEDGEN:676519", "Orphanet:674953", "UMLS:C0730322", "icd11.foundation:1817745681" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0971128" }, { "id": 26061, "label": "stellate multiform amelanotic choroidopathy", "isLeaf": true, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027192", "MEDGEN:1864336", "Orphanet:674958", "UMLS:C5925082" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0971129" }, { "id": 26605, "label": "macular telangiectasia", "isLeaf": false, "isRoot": false, "parents": [ 7019 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:573180", "UMLS:C0339480" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An eye disorder characterized by retinal capillary network incompetence, dilatations, and thinning which can be uniocular or binocular and causes gradual deterioration of central vision." }, "child_count": 3, "reference_id": "MONDO:1010184" } ], "roots": [ { "id": 4171, "label": "disorder of orbital region" }, { "id": 21415, "label": "disorder of visual system" } ] }