| {"breed":"American Staffordshire Terrier, Beagle, Belgian Shepherd Dog, Malinois","disease_group_id":"VHCASEGROUP:omia-31","evaluation":{"discovery_mask_disease_ids":["OMIA:000031-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e3fbc03b5ef2e5334a822c10371e48120a341d8fe7a5761bde81b9ed451dd88b","OMIA:000031-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028517","id":"case-omia-000031-mlph","label":"Coat colour, dilution, MLPH-related","phenotypes":{"excluded":[],"present":["HP:0001596","HP:0002232","HP:0002287","HP:0003493","HP:0011123","HP:0032152","HP:5210230"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000031-9615","url":"https://omia.org/OMIA000031/9615/"},"species":"NCBITaxon:9615","summary":"Coat colour, dilution, MLPH-related. Expected gene MLPH (ENSCAFG00845028517), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Brittany Spaniel","disease_group_id":"VHCASEGROUP:omia-155","evaluation":{"discovery_mask_disease_ids":["OMIA:000155-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:5c6b88e138996e2055bf55184e244321e58742a12852a337b2a89d50a4c4a0c1","OMIA:000155-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010104","id":"case-omia-000155-c3","label":"C3 deficiency","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000793","HP:0002718","HP:0002719"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1998,"reference":{"label":"OMIA:000155-9615","url":"https://omia.org/OMIA000155/9615/"},"species":"NCBITaxon:9615","summary":"C3 deficiency. Expected gene C3 (ENSCAFG00845010104), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Alaskan Husky, Australian Kelpie, Australian Shepherd","disease_group_id":"VHCASEGROUP:omia-218","evaluation":{"discovery_mask_disease_ids":["OMIA:000218-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:47569886170853a701cd4bd035db47f1e4db2285fd6e35508d3420194cbd23fe","OMIA:000218-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028988","id":"case-omia-000218-nhej1","label":"Choroidal hypoplasia, NHEJ1-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000541","HP:0000588","HP:0001105","HP:0007731","HP:0008052","HP:0012841"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000218-9615","url":"https://omia.org/OMIA000218/9615/"},"species":"NCBITaxon:9615","summary":"Choroidal hypoplasia, NHEJ1-related. Expected gene NHEJ1 (ENSCAFG00845028988), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Jack Russell Terrier","disease_group_id":"VHCASEGROUP:omia-220","evaluation":{"discovery_mask_disease_ids":["OMIA:000220-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a79624599efe348193071fc8ae015d348b53e8a5291cc5d39a159eae10e4095e","OMIA:000220-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845027748","id":"case-omia-000220-prkdc","label":"Severe combined immunodeficiency disease, autosomal, PRKDC-related","phenotypes":{"excluded":[],"present":["HP:0002024","HP:0004430","HP:0005387"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2002,"reference":{"label":"OMIA:000220-9615","url":"https://omia.org/OMIA000220/9615/"},"species":"NCBITaxon:9615","summary":"Severe combined immunodeficiency disease, autosomal, PRKDC-related. Expected gene PRKDC (ENSCAFG00845027748), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Basset Hound, Collie, Mixed Breed","disease_group_id":"VHCASEGROUP:omia-248","evaluation":{"discovery_mask_disease_ids":["OMIA:000248-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c3011f5db8e91b34afab7145dd52b7998877314ebef994202166fa526cd92502","OMIA:000248-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008344","id":"case-omia-000248-ap3b1","label":"Neutropenia, cyclic","phenotypes":{"excluded":[],"present":["HP:0001954","HP:0006725","HP:0011034","HP:0020116","HP:0040289"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2003,"reference":{"label":"OMIA:000248-9615","url":"https://omia.org/OMIA000248/9615/"},"species":"NCBITaxon:9615","summary":"Neutropenia, cyclic. Expected gene AP3B1 (ENSCAFG00845008344), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"English Bulldog, French Bulldog, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-256","evaluation":{"discovery_mask_disease_ids":["OMIA:000256-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:baacce7b4cd5b7ac79a442b1875647c72a8fcea7522c43b248ab60307b433dbc","OMIA:000256-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845026546","id":"case-omia-000256-slc3a1","label":"Cystinuria, type I - A","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000796","HP:0010474","HP:0012072","HP:0012786"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2000,"reference":{"label":"OMIA:000256-9615","url":"https://omia.org/OMIA000256/9615/"},"species":"NCBITaxon:9615","summary":"Cystinuria, type I - A. Expected gene SLC3A1 (ENSCAFG00845026546), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Alaskan Husky, Alaskan Malamute, American Eskimo Dog","disease_group_id":"VHCASEGROUP:omia-263","evaluation":{"discovery_mask_disease_ids":["OMIA:000263-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:23583e392167eaf792203ec8c094562da1a6db01bbf941ebc0e9cdd9268c5372","OMIA:000263-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845022725","id":"case-omia-000263-sod1","label":"Degenerative myelopathy","phenotypes":{"excluded":[],"present":["HP:0000546","HP:0000839","HP:0002070","HP:0002098","HP:0002176","HP:0002313","HP:0002366","HP:0002529","HP:0002540","HP:0002607","HP:0003202","HP:0003474","HP:0003557","HP:0003690","HP:0006827","HP:0007354","HP:0007373","HP:0009830","HP:0040078","HP:0100513"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2009,"reference":{"label":"OMIA:000263-9615","url":"https://omia.org/OMIA000263/9615/"},"species":"NCBITaxon:9615","summary":"Degenerative myelopathy. Expected gene SOD1 (ENSCAFG00845022725), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Alaskan Husky, Alaskan Malamute, American Eskimo Dog","disease_group_id":"VHCASEGROUP:omia-263","evaluation":{"discovery_mask_disease_ids":["OMIA:000263-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b77d0f54db5d71d3d155e99509676f2e42280f3fff764eca3ee1e09e9d6c8e64","OMIA:000263-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020232","id":"case-omia-000263-sp110","label":"Degenerative myelopathy","phenotypes":{"excluded":[],"present":["HP:0000546","HP:0000839","HP:0002070","HP:0002098","HP:0002176","HP:0002313","HP:0002366","HP:0002529","HP:0002540","HP:0002607","HP:0003202","HP:0003474","HP:0003557","HP:0003690","HP:0006827","HP:0007354","HP:0007373","HP:0009830","HP:0040078","HP:0100513"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2009,"reference":{"label":"OMIA:000263-9615","url":"https://omia.org/OMIA000263/9615/"},"species":"NCBITaxon:9615","summary":"Degenerative myelopathy. Expected gene SP110 (ENSCAFG00845020232), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Chow Chow, Dachshund, French Bulldog","disease_group_id":"VHCASEGROUP:omia-272","evaluation":{"discovery_mask_disease_ids":["OMIA:000272-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:39a896fea41bb6f9dcc5102eeea31dec351c6286c851d1de26cab714d9b324ff","OMIA:000272-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015136","id":"case-omia-000272-fgf19","label":"Dermoid sinus","phenotypes":{"excluded":[],"present":["HP:0000924","HP:0002098","HP:0002144","HP:0002414","HP:0005857","HP:0006946","HP:0025247"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000272-9615","url":"https://omia.org/OMIA000272/9615/"},"species":"NCBITaxon:9615","summary":"Dermoid sinus. Expected gene FGF19 (ENSCAFG00845015136), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Chow Chow, Dachshund, French Bulldog","disease_group_id":"VHCASEGROUP:omia-272","evaluation":{"discovery_mask_disease_ids":["OMIA:000272-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e8d4db5440474f5d564988c9a2bab3ee2e9c4f91813e40dc9eaa748da1292bef","OMIA:000272-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015080","id":"case-omia-000272-fgf3","label":"Dermoid sinus","phenotypes":{"excluded":[],"present":["HP:0000924","HP:0002098","HP:0002144","HP:0002414","HP:0005857","HP:0006946","HP:0025247"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000272-9615","url":"https://omia.org/OMIA000272/9615/"},"species":"NCBITaxon:9615","summary":"Dermoid sinus. Expected gene FGF3 (ENSCAFG00845015080), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Chow Chow, Dachshund, French Bulldog","disease_group_id":"VHCASEGROUP:omia-272","evaluation":{"discovery_mask_disease_ids":["OMIA:000272-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:f557444dfe720ee01c07447bb7e801219c0c098478aaab29371d9c01ab2f6bcc","OMIA:000272-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015112","id":"case-omia-000272-fgf4-retrogene-on-cfa12","label":"Dermoid sinus","phenotypes":{"excluded":[],"present":["HP:0000924","HP:0002098","HP:0002144","HP:0002414","HP:0005857","HP:0006946","HP:0025247"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000272-9615","url":"https://omia.org/OMIA000272/9615/"},"species":"NCBITaxon:9615","summary":"Dermoid sinus. Expected gene FGF4 retrogene on CFA12 (ENSCAFG00845015112), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Chow Chow, Dachshund, French Bulldog","disease_group_id":"VHCASEGROUP:omia-272","evaluation":{"discovery_mask_disease_ids":["OMIA:000272-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:30ccc50e5db0bd9a840acc3d95a4325c9bf360d57d76e7c2ea8aa55eeee7ef97","OMIA:000272-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015244","id":"case-omia-000272-oraov1","label":"Dermoid sinus","phenotypes":{"excluded":[],"present":["HP:0000924","HP:0002098","HP:0002144","HP:0002414","HP:0005857","HP:0006946","HP:0025247"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000272-9615","url":"https://omia.org/OMIA000272/9615/"},"species":"NCBITaxon:9615","summary":"Dermoid sinus. Expected gene ORAOV1 (ENSCAFG00845015244), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Chinese Crested, Peruvian Hairless Dog, Xoloitzcuintli","disease_group_id":"VHCASEGROUP:omia-323","evaluation":{"discovery_mask_disease_ids":["OMIA:000323-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:f3007a5ae69485f4cbc068afb549046e54bec7dd0eddabfcef1fd10cabe431a3","OMIA:000323-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013015","id":"case-omia-000323-foxi3","label":"Ectodermal dysplasia","phenotypes":{"excluded":[],"present":["HP:0000164","HP:0000968","HP:0006482","HP:0008070","HP:0100022"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2008,"reference":{"label":"OMIA:000323-9615","url":"https://omia.org/OMIA000323/9615/"},"species":"NCBITaxon:9615","summary":"Ectodermal dysplasia. Expected gene FOXI3 (ENSCAFG00845013015), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Alapaha Blue Blood Bulldog, American Pit Bull Terrier, Catahoula Leopard Dog","disease_group_id":"VHCASEGROUP:omia-328","evaluation":{"discovery_mask_disease_ids":["OMIA:000328-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:84b10808f1253035c43140e997c753fcbdaea4a104f97426685838d8dcdb747e","OMIA:000328-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008674","id":"case-omia-000328-adamts2","label":"Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related","phenotypes":{"excluded":[],"present":["HP:0000974","HP:0001030","HP:0001075","HP:0001382"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:000328-9615","url":"https://omia.org/OMIA000328/9615/"},"species":"NCBITaxon:9615","summary":"Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related. Expected gene ADAMTS2 (ENSCAFG00845008674), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"English Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-396","evaluation":{"discovery_mask_disease_ids":["OMIA:000396-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b78f4ad21d4f328d95b737c8feff8ba2c4c5c3819a121f25e4c6cf3cf08b21d3","OMIA:000396-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845014722","id":"case-omia-000396-fuca1","label":"Fucosidosis, alpha","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000529","HP:0001268","HP:0001824","HP:0002024","HP:0002073","HP:0002529","HP:0003202","HP:0003251"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1996,"reference":{"label":"OMIA:000396-9615","url":"https://omia.org/OMIA000396/9615/"},"species":"NCBITaxon:9615","summary":"Fucosidosis, alpha. Expected gene FUCA1 (ENSCAFG00845014722), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Alaskan Husky, Beagle, English Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-402","evaluation":{"discovery_mask_disease_ids":["OMIA:000402-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e54cda9c635a23f107d9363b1060555682b14952cce5880560183f2838636130","OMIA:000402-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023378","id":"case-omia-000402-glb1","label":"Gangliosidosis, GM1","phenotypes":{"excluded":[],"present":["HP:0000280","HP:0000943","HP:0001824","HP:0002080","HP:0002136","HP:0002500","HP:0002652","HP:0003690","HP:0004345","HP:0007009","HP:0007957","HP:0012444","HP:0020160","HP:0031361","HP:0034718","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2000,"reference":{"label":"OMIA:000402-9615","url":"https://omia.org/OMIA000402/9615/"},"species":"NCBITaxon:9615","summary":"Gangliosidosis, GM1. Expected gene GLB1 (ENSCAFG00845023378), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"German Pinscher, Maltese Terrier","disease_group_id":"VHCASEGROUP:omia-418","evaluation":{"discovery_mask_disease_ids":["OMIA:000418-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a210e8a4ee8f77a7a16409be97ae9df3b1a3f2e180ae7136cd63533f611ab8bc","OMIA:000418-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845006712","id":"case-omia-000418-g6pc","label":"Glycogen storage disease Ia","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000096","HP:0001402","HP:0001508","HP:0001510","HP:0001988","HP:0003128","HP:0003162","HP:0006568","HP:0008897"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1997,"reference":{"label":"OMIA:000418-9615","url":"https://omia.org/OMIA000418/9615/"},"species":"NCBITaxon:9615","summary":"Glycogen storage disease Ia. Expected gene G6PC (ENSCAFG00845006712), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Finnish Lapphund, Lapponian Herder, Swedish Lapphund","disease_group_id":"VHCASEGROUP:omia-419","evaluation":{"discovery_mask_disease_ids":["OMIA:000419-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d03c347ffb0e71f722b84961df5217df5717c279e9799f19ddf3588b0e4b5e74","OMIA:000419-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013429","id":"case-omia-000419-gaa","label":"Glycogen storage disease II","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0003323","HP:0003546"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:000419-9615","url":"https://omia.org/OMIA000419/9615/"},"species":"NCBITaxon:9615","summary":"Glycogen storage disease II. Expected gene GAA (ENSCAFG00845013429), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"American Cocker Spaniel, Deutscher Wachtelhund, English Cocker Spaniel","disease_group_id":"VHCASEGROUP:omia-421","evaluation":{"discovery_mask_disease_ids":["OMIA:000421-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:994859dcd3eb41ad1eb38db17f07cdff79eb04ac3504b29550f15ee456d1e48f","OMIA:000421-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845022883","id":"case-omia-000421-pfkm","label":"Glycogen storage disease VII","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0001878","HP:0001931","HP:0003202","HP:0003236","HP:0003394","HP:0003546","HP:0004870","HP:0030148","HP:0031664"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1996,"reference":{"label":"OMIA:000421-9615","url":"https://omia.org/OMIA000421/9615/"},"species":"NCBITaxon:9615","summary":"Glycogen storage disease VII. Expected gene PFKM (ENSCAFG00845022883), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Belgian Shepherd Dog, Malinois, Border Collie, Boxer","disease_group_id":"VHCASEGROUP:omia-437","evaluation":{"discovery_mask_disease_ids":["OMIA:000437-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9d703978d9028caa44384f7212e370c9d5b08bf69535c18bf6deb724f39e4767","OMIA:000437-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845030098","id":"case-omia-000437-f8","label":"Haemophilia A","phenotypes":{"excluded":[],"present":["HP:0001892","HP:0002423","HP:0003560","HP:0003645","HP:0004420","HP:0005542","HP:0007875","HP:0100545"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2002,"reference":{"label":"OMIA:000437-9615","url":"https://omia.org/OMIA000437/9615/"},"species":"NCBITaxon:9615","summary":"Haemophilia A. Expected gene F8 (ENSCAFG00845030098), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Airedale Terrier, Alaskan Malamute, American Cocker Spaniel","disease_group_id":"VHCASEGROUP:omia-438","evaluation":{"discovery_mask_disease_ids":["OMIA:000438-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:aeb0964d94adfc09a6219f3d98101b3871bc5b3ddf4be27c2ce5da01402e396c","OMIA:000438-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029706","id":"case-omia-000438-f9","label":"Haemophilia B","phenotypes":{"excluded":[],"present":["HP:0001892","HP:0003645","HP:0011858","HP:0012532","HP:0025085"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1989,"reference":{"label":"OMIA:000438-9615","url":"https://omia.org/OMIA000438/9615/"},"species":"NCBITaxon:9615","summary":"Haemophilia B. Expected gene F9 (ENSCAFG00845029706), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"French Bulldog, Giant Schnauzer, Rat Terrier","disease_group_id":"VHCASEGROUP:omia-536","evaluation":{"discovery_mask_disease_ids":["OMIA:000536-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:695022d67fd7f85d87a393ab6fb115cb191b7d99ea2e1f5777f903ecd7ff0d01","OMIA:000536-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017327","id":"case-omia-000536-tpo","label":"Hypothyroidism, congenital","phenotypes":{"excluded":[],"present":["HP:0000684","HP:0000707","HP:0000819","HP:0000820","HP:0000831","HP:0000832","HP:0000851","HP:0000855","HP:0001288","HP:0001510","HP:0001644","HP:0001650","HP:0001824","HP:0001872","HP:0002206","HP:0002656","HP:0002750","HP:0002925","HP:0003155","HP:0003236","HP:0003270","HP:0003429","HP:0003546","HP:0005990","HP:0006530","HP:0008188","HP:0008251","HP:0010628","HP:0011787","HP:0012224","HP:0100561"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2003,"reference":{"label":"OMIA:000536-9615","url":"https://omia.org/OMIA000536/9615/"},"species":"NCBITaxon:9615","summary":"Hypothyroidism, congenital. Expected gene TPO (ENSCAFG00845017327), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Basset Hound, Belgian Shepherd Dog, Bichon Frise","disease_group_id":"VHCASEGROUP:omia-543","evaluation":{"discovery_mask_disease_ids":["OMIA:000543-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:28ba8cd518cda7679400bfbfffbc846784edbb74035125e8e3ba613a8491561d","OMIA:000543-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028755","id":"case-omia-000543-eda","label":"Hypohidrotic ectodermal dysplasia, X-linked, EDA-related","phenotypes":{"excluded":[],"present":["HP:0000968","HP:0002205","HP:0002719","HP:0006482","HP:0006532","HP:0011136","HP:0011947","HP:0012804"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:000543-9615","url":"https://omia.org/OMIA000543/9615/"},"species":"NCBITaxon:9615","summary":"Hypohidrotic ectodermal dysplasia, X-linked, EDA-related. Expected gene EDA (ENSCAFG00845028755), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Australian Shepherd, Giant Schnauzer, Komondor","disease_group_id":"VHCASEGROUP:omia-565","evaluation":{"discovery_mask_disease_ids":["OMIA:000565-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ddaa57ce998b50baab2dec45c4b32e52c3fdfab285f7d0c4d6bd102dc154589d","OMIA:000565-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017022","id":"case-omia-000565-amn","label":"Intestinal cobalamin malabsorption, AMN-related","phenotypes":{"excluded":[],"present":["HP:0001508","HP:0001889","HP:0002024","HP:0012120"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:000565-9615","url":"https://omia.org/OMIA000565/9615/"},"species":"NCBITaxon:9615","summary":"Intestinal cobalamin malabsorption, AMN-related. Expected gene AMN (ENSCAFG00845017022), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Australian Kelpie, Basset Hound, Beagle","disease_group_id":"VHCASEGROUP:omia-578","evaluation":{"discovery_mask_disease_ids":["OMIA:000578-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9b1b0abd4d1e8f78206dfc0c3921de839d94b125dd97db0fd75bdea0a28488d7","OMIA:000578-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009690","id":"case-omia-000578-galc","label":"Krabbe disease","phenotypes":{"excluded":[],"present":["HP:0002070","HP:0002073","HP:0002406","HP:0003202","HP:0003690","HP:0009830","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1996,"reference":{"label":"OMIA:000578-9615","url":"https://omia.org/OMIA000578/9615/"},"species":"NCBITaxon:9615","summary":"Krabbe disease. Expected gene GALC (ENSCAFG00845009690), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"American Toy Terrier, Australian Cattle Dog, Border Collie","disease_group_id":"VHCASEGROUP:omia-588","evaluation":{"discovery_mask_disease_ids":["OMIA:000588-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:0f39ddb9b59aa3c924dd76b5e05b3e2a2809f2d67290d2d0ca1cdba565044e70","OMIA:000588-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001303","id":"case-omia-000588-adamts17","label":"Lens luxation","phenotypes":{"excluded":[],"present":["HP:0000519","HP:0000541","HP:0000546","HP:0000572","HP:0000924","HP:0001083","HP:0001097","HP:0001105","HP:0007906","HP:0007973","HP:0012019","HP:0012108","HP:0012122","HP:0012804","HP:0200026"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:000588-9615","url":"https://omia.org/OMIA000588/9615/"},"species":"NCBITaxon:9615","summary":"Lens luxation. Expected gene ADAMTS17 (ENSCAFG00845001303), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Irish Red and White Setter, Irish Setter, Mixed Breed","disease_group_id":"VHCASEGROUP:omia-595","evaluation":{"discovery_mask_disease_ids":["OMIA:000595-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:63b0caaeb451a2040242e71dc083b6a631a138d06d0903fe337005380892643c","OMIA:000595-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021592","id":"case-omia-000595-itgb2","label":"Leukocyte adhesion deficiency, type I","phenotypes":{"excluded":[],"present":["HP:0002098","HP:0002718","HP:0002719","HP:0003051","HP:0004325","HP:0005406","HP:0032239","HP:0033399"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1999,"reference":{"label":"OMIA:000595-9615","url":"https://omia.org/OMIA000595/9615/"},"species":"NCBITaxon:9615","summary":"Leukocyte adhesion deficiency, type I. Expected gene ITGB2 (ENSCAFG00845021592), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Bernese Mountain Dog, Flat-Coated Retriever, Golden Retriever","disease_group_id":"VHCASEGROUP:omia-620","evaluation":{"discovery_mask_disease_ids":["OMIA:000620-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e8552946bcc08a7c39d0ec66bee430ec0184287f6cc5408aab99b2849627c770","OMIA:000620-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024647","id":"case-omia-000620-tp53","label":"Histiocytosis, malignant","phenotypes":{"excluded":[],"present":["HP:0000020","HP:0001385","HP:0001824","HP:0001878","HP:0002202","HP:0002860","HP:0004490","HP:0006775","HP:0012191","HP:0031500","HP:0033662","HP:0033821","HP:0100526","HP:0100721"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:000620-9615","url":"https://omia.org/OMIA000620/9615/"},"species":"NCBITaxon:9615","summary":"Histiocytosis, malignant. Expected gene TP53 (ENSCAFG00845024647), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Cavalier King Charles Spaniel","disease_group_id":"VHCASEGROUP:omia-640","evaluation":{"discovery_mask_disease_ids":["OMIA:000640-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7b19f71a72198fa4590da222da8ee453aadd58cb5cb7bcceab41607a7168079b","OMIA:000640-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020199","id":"case-omia-000640-atp7a","label":"Menkes disease","phenotypes":{"excluded":[],"present":["HP:0000707","HP:0001251","HP:0001508","HP:0002028"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2026,"reference":{"label":"OMIA:000640-9615","url":"https://omia.org/OMIA000640/9615/"},"species":"NCBITaxon:9615","summary":"Menkes disease. Expected gene ATP7A (ENSCAFG00845020199), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Boston Terrier, Doberman Pinscher, Golden Retriever","disease_group_id":"VHCASEGROUP:omia-664","evaluation":{"discovery_mask_disease_ids":["OMIA:000664-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b7e47ba00a28097a2c2e62878e9fd62c07a54804209530598ef066ceb63b7c38","OMIA:000664-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001029","id":"case-omia-000664-idua","label":"Mucopolysaccharidosis I","phenotypes":{"excluded":[],"present":["HP:0000388","HP:0000389","HP:0000481","HP:0000505","HP:0000924","HP:0001288","HP:0001409","HP:0002120","HP:0002176","HP:0002500","HP:0003414","HP:0004345","HP:0007957","HP:0012447","HP:0032153","HP:0100543"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1992,"reference":{"label":"OMIA:000664-9615","url":"https://omia.org/OMIA000664/9615/"},"species":"NCBITaxon:9615","summary":"Mucopolysaccharidosis I. Expected gene IDUA (ENSCAFG00845001029), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Chesapeake Bay Retriever, Great Dane, Miniature Pinscher","disease_group_id":"VHCASEGROUP:omia-666","evaluation":{"discovery_mask_disease_ids":["OMIA:000666-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c42453607d25850cd9da98cb5f2b22988682fd4c6d08b0fd7cd47414b01dfeae","OMIA:000666-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007767","id":"case-omia-000666-arsb","label":"Mucopolysaccharidosis VI","phenotypes":{"excluded":[],"present":["HP:0000924","HP:0001382","HP:0001537","HP:0001953","HP:0002656","HP:0003311","HP:0007957"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2004,"reference":{"label":"OMIA:000666-9615","url":"https://omia.org/OMIA000666/9615/"},"species":"NCBITaxon:9615","summary":"Mucopolysaccharidosis VI. Expected gene ARSB (ENSCAFG00845007767), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Brazilian Terrier, German Shepherd Dog","disease_group_id":"VHCASEGROUP:omia-667","evaluation":{"discovery_mask_disease_ids":["OMIA:000667-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:1752f43bc7d3417d643628464d6623c202376dee6f60a2b6881cfe65cf2d6095","OMIA:000667-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013255","id":"case-omia-000667-gusb","label":"Mucopolysaccharidosis VII","phenotypes":{"excluded":[],"present":["HP:0000256","HP:0000280","HP:0000283","HP:0000303","HP:0000327","HP:0000369","HP:0000388","HP:0000389","HP:0000470","HP:0000924","HP:0001249","HP:0001263","HP:0001288","HP:0001510","HP:0001653","HP:0001659","HP:0002176","HP:0002652","HP:0002655","HP:0002656","HP:0002758","HP:0004322","HP:0005186","HP:0007759","HP:0007957","HP:0008469","HP:0010807","HP:0032153"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1998,"reference":{"label":"OMIA:000667-9615","url":"https://omia.org/OMIA000667/9615/"},"species":"NCBITaxon:9615","summary":"Mucopolysaccharidosis VII. Expected gene GUSB (ENSCAFG00845013255), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Whippet","disease_group_id":"VHCASEGROUP:omia-683","evaluation":{"discovery_mask_disease_ids":["OMIA:000683-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:052011994b23b30d7d7cc334b6c990ebc528aaf132f164278d7e93b95f48c064","OMIA:000683-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024446","id":"case-omia-000683-mstn","label":"Muscular hypertrophy (double muscling)","phenotypes":{"excluded":[],"present":["HP:0000472","HP:0003394","HP:0003712"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:000683-9615","url":"https://omia.org/OMIA000683/9615/"},"species":"NCBITaxon:9615","summary":"Muscular hypertrophy (double muscling). Expected gene MSTN (ENSCAFG00845024446), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"English Springer Spaniel, Heideterrier, Jack Russell Terrier","disease_group_id":"VHCASEGROUP:omia-685","evaluation":{"discovery_mask_disease_ids":["OMIA:000685-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c041abdf12552a42b5f902952c718b6810cf4b43c0be8c273f77b8011350bbcb","OMIA:000685-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845003576","id":"case-omia-000685-chrne","label":"Myasthenic syndrome, congenital, CHRNE-related","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0003324","HP:0003473","HP:0020174"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:000685-9615","url":"https://omia.org/OMIA000685/9615/"},"species":"NCBITaxon:9615","summary":"Myasthenic syndrome, congenital, CHRNE-related. Expected gene CHRNE (ENSCAFG00845003576), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Basset Hound, Beagle, Brussels Griffon","disease_group_id":"VHCASEGROUP:omia-690","evaluation":{"discovery_mask_disease_ids":["OMIA:000690-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:505451bdb8cd853d3352bc6af00f0df92a9a09311d8a1bf09c8c31646e78a6cf","OMIA:000690-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028631","id":"case-omia-000690-nhlrc1","label":"Myoclonus epilepsy of Lafora","phenotypes":{"excluded":[],"present":["HP:0000020","HP:0000505","HP:0000572","HP:0000708","HP:0001268","HP:0002069","HP:0002123","HP:0002133","HP:0002197","HP:0007359","HP:0020221","HP:0025112","HP:0025189","HP:0100318"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:000690-9615","url":"https://omia.org/OMIA000690/9615/"},"species":"NCBITaxon:9615","summary":"Myoclonus epilepsy of Lafora. Expected gene NHLRC1 (ENSCAFG00845028631), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"American Bulldog, Australian Cattle Dog, Border Collie","disease_group_id":"VHCASEGROUP:omia-698","evaluation":{"discovery_mask_disease_ids":["OMIA:000698-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:52556e81b8ccdbfc9b48175ef6f991359b481cc36e82b970fb24e502492f6ae3","OMIA:000698-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845016951","id":"case-omia-000698-clcn1","label":"Myotonia","phenotypes":{"excluded":[],"present":["HP:0000684","HP:0001288","HP:0002015","HP:0003202","HP:0003394","HP:0003552","HP:0003712","HP:0006335","HP:0200136"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1999,"reference":{"label":"OMIA:000698-9615","url":"https://omia.org/OMIA000698/9615/"},"species":"NCBITaxon:9615","summary":"Myotonia. Expected gene CLCN1 (ENSCAFG00845016951), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Afghan Hound, Airedale Terrier, Alaskan Malamute","disease_group_id":"VHCASEGROUP:omia-703","evaluation":{"discovery_mask_disease_ids":["OMIA:000703-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9ba691665b29d6866861670d6a71b7257d442164307ed24ecfe5641168923479","OMIA:000703-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845011460","id":"case-omia-000703-hcrtr2","label":"Narcolepsy","phenotypes":{"excluded":[],"present":["HP:0001262","HP:0001324","HP:0002330","HP:0002494","HP:0025199","HP:0025233","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1999,"reference":{"label":"OMIA:000703-9615","url":"https://omia.org/OMIA000703/9615/"},"species":"NCBITaxon:9615","summary":"Narcolepsy. Expected gene HCRTR2 (ENSCAFG00845011460), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Nederlandse Kooikerhondje","disease_group_id":"VHCASEGROUP:omia-706","evaluation":{"discovery_mask_disease_ids":["OMIA:000706-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:bef7490a6fe87c6a008ffe130aeeaa60cc29b807d62e57fb1572e38393b16cf5","OMIA:000706-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007710","id":"case-omia-000706-iba57","label":"Necrotising myelopathy, IBA57-related","phenotypes":{"excluded":[],"present":["HP:0002073","HP:0002540","HP:0009071"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:000706-9615","url":"https://omia.org/OMIA000706/9615/"},"species":"NCBITaxon:9615","summary":"Necrotising myelopathy, IBA57-related. Expected gene IBA57 (ENSCAFG00845007710), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"English Cocker Spaniel, Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-770","evaluation":{"discovery_mask_disease_ids":["OMIA:000770-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:447b1553e060de35f9dbb91d908e01f9e36ba6bfe3df96c03392f294f73537f2","OMIA:000770-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023800","id":"case-omia-000770-plp1","label":"Tremor, X-linked","phenotypes":{"excluded":[],"present":["HP:0003698","HP:0006978","HP:0011364"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1990,"reference":{"label":"OMIA:000770-9615","url":"https://omia.org/OMIA000770/9615/"},"species":"NCBITaxon:9615","summary":"Tremor, X-linked. Expected gene PLP1 (ENSCAFG00845023800), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Bull Terrier, Cairn Terrier, Lagotto Romagnolo","disease_group_id":"VHCASEGROUP:omia-807","evaluation":{"discovery_mask_disease_ids":["OMIA:000807-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:1e3ef36657c4e9c403e880a93bdf4c71435817e1103a2c83c75aa99fe501cc0d","OMIA:000807-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015847","id":"case-omia-000807-pkd1","label":"Polycystic kidney disease","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000113","HP:0001399","HP:0001407","HP:0001650","HP:0001718","HP:0003270","HP:0003774","HP:0030148","HP:0032092"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:000807-9615","url":"https://omia.org/OMIA000807/9615/"},"species":"NCBITaxon:9615","summary":"Polycystic kidney disease. Expected gene PKD1 (ENSCAFG00845015847), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Maltese, Mixed Breed, Poodle","disease_group_id":"VHCASEGROUP:omia-809","evaluation":{"discovery_mask_disease_ids":["OMIA:000809-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3a5d40af99a61e73a20b98445fb6eefc94ef0feb58709a9f35c526e42a822f8a","OMIA:000809-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015887","id":"case-omia-000809-jak2","label":"Polycythemia","phenotypes":{"excluded":[],"present":["HP:0001898","HP:0001899","HP:0100724"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:000809-9615","url":"https://omia.org/OMIA000809/9615/"},"species":"NCBITaxon:9615","summary":"Polycythemia. Expected gene JAK2 (ENSCAFG00845015887), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Irish Setter","disease_group_id":"VHCASEGROUP:omia-882","evaluation":{"discovery_mask_disease_ids":["OMIA:000882-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:294c6822c91d8ae916be0d2e769f7298d2fba6de2340b49b13762e4235410595","OMIA:000882-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001610","id":"case-omia-000882-pde6b","label":"Retinal atrophy - Rod-cone dysplasia 1","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000529","HP:0000546","HP:0000556","HP:0000572","HP:0000608","HP:0001089","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1993,"reference":{"label":"OMIA:000882-9615","url":"https://omia.org/OMIA000882/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Rod-cone dysplasia 1. Expected gene PDE6B (ENSCAFG00845001610), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Basset Hound, Cardigan Welsh Corgi","disease_group_id":"VHCASEGROUP:omia-899","evaluation":{"discovery_mask_disease_ids":["OMIA:000899-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2b9c5fda1859f68944821d869c502ba2c3af012901044f6f24255ce6101448da","OMIA:000899-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017057","id":"case-omia-000899-il2rg","label":"Severe combined immunodeficiency disease, X-linked","phenotypes":{"excluded":[],"present":["HP:0001508","HP:0001510","HP:0002719","HP:0002860","HP:0004430","HP:0005387","HP:0005390","HP:0005403","HP:0012190","HP:5210139"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1994,"reference":{"label":"OMIA:000899-9615","url":"https://omia.org/OMIA000899/9615/"},"species":"NCBITaxon:9615","summary":"Severe combined immunodeficiency disease, X-linked. Expected gene IL2RG (ENSCAFG00845017057), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Alaskan Malamute, Chihuahua, Collie","disease_group_id":"VHCASEGROUP:omia-938","evaluation":{"discovery_mask_disease_ids":["OMIA:000938-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:df8c84105b937ce12da822cda8d0573caaee15c8d9cda654b382ea60af2a2b14","OMIA:000938-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002657","id":"case-omia-000938-nkx2-8","label":"Spinal dysraphism","phenotypes":{"excluded":[],"present":["HP:0000011","HP:0000776","HP:0000902","HP:0002414","HP:0002607","HP:0008467","HP:0010301"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:000938-9615","url":"https://omia.org/OMIA000938/9615/"},"species":"NCBITaxon:9615","summary":"Spinal dysraphism. Expected gene NKX2-8 (ENSCAFG00845002657), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Golden Retriever, Great Pyrenees, Mixed Breed","disease_group_id":"VHCASEGROUP:omia-1000","evaluation":{"discovery_mask_disease_ids":["OMIA:001000-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:8d16ede6ea96b8fe5d2c7d7b0ff37e5b3d42863863277fdd42018199e65d3210","OMIA:001000-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007943","id":"case-omia-001000-itga2b","label":"Thrombasthenia","phenotypes":{"excluded":[],"present":["HP:0000225","HP:0001627","HP:0001892","HP:0003540"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2000,"reference":{"label":"OMIA:001000-9615","url":"https://omia.org/OMIA001000/9615/"},"species":"NCBITaxon:9615","summary":"Thrombasthenia. Expected gene ITGA2B (ENSCAFG00845007943), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"American Staffordshire Terrier, Australian Shepherd, Bichon Frise","disease_group_id":"VHCASEGROUP:omia-1033","evaluation":{"discovery_mask_disease_ids":["OMIA:001033-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:14833d1b25d9dcf33359857e816de8d5c54c3cb2adfd051eaa6c1909f1876da4","OMIA:001033-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002932","id":"case-omia-001033-slc2a9","label":"Urolithiasis","phenotypes":{"excluded":[],"present":["HP:0000010","HP:0000110","HP:0000787","HP:0000791","HP:0000796","HP:0001942","HP:0002597","HP:0008718","HP:0010474","HP:0012587","HP:0034548"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2008,"reference":{"label":"OMIA:001033-9615","url":"https://omia.org/OMIA001033/9615/"},"species":"NCBITaxon:9615","summary":"Urolithiasis. Expected gene SLC2A9 (ENSCAFG00845002932), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Doberman Pinscher, German Shepherd Dog, Golden Retriever","disease_group_id":"VHCASEGROUP:omia-1057","evaluation":{"discovery_mask_disease_ids":["OMIA:001057-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:f3e98fd85f3705249c36dbea81baaacb93cefdc31ed8276eb57d74a8b912934b","OMIA:001057-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029798","id":"case-omia-001057-vwf","label":"Von Willebrand disease I","phenotypes":{"excluded":[],"present":["HP:0000225","HP:0001643","HP:0001892","HP:0002239","HP:0011896","HP:0030148"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1998,"reference":{"label":"OMIA:001057-9615","url":"https://omia.org/OMIA001057/9615/"},"species":"NCBITaxon:9615","summary":"Von Willebrand disease I. Expected gene VWF (ENSCAFG00845029798), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Bedlington Terrier, Cavalier King Charles Spaniel, Dalmatian","disease_group_id":"VHCASEGROUP:omia-1071","evaluation":{"discovery_mask_disease_ids":["OMIA:001071-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:07b7ab21c4c27aaf1e0dc4b23511b009ace39f685f03699296a176f1eef5ad9d","OMIA:001071-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020988","id":"case-omia-001071-atp7b","label":"Wilson disease","phenotypes":{"excluded":[],"present":["HP:0001399","HP:0001409","HP:0001824","HP:0002605","HP:0003155","HP:0006554","HP:0011967","HP:0025321","HP:0200120","HP:0200123"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:001071-9615","url":"https://omia.org/OMIA001071/9615/"},"species":"NCBITaxon:9615","summary":"Wilson disease. Expected gene ATP7B (ENSCAFG00845020988), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Australian Cattle Dog, Australian Labradoodle, Border Collie","disease_group_id":"VHCASEGROUP:omia-1081","evaluation":{"discovery_mask_disease_ids":["OMIA:001081-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3c4880e3bd95f3f62f6813a4e5fa2124eead43043022e3cbb50b1d5c7f5d0c20","OMIA:001081-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017750","id":"case-omia-001081-dmd","label":"Muscular dystrophy, Duchenne type","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000767","HP:0001288","HP:0001324","HP:0001508","HP:0001635","HP:0001644","HP:0001685","HP:0001695","HP:0001824","HP:0002036","HP:0002362","HP:0002505","HP:0002515","HP:0002540","HP:0002878","HP:0003202","HP:0003236","HP:0003323","HP:0003324","HP:0003546","HP:0003552","HP:0003555","HP:0003560","HP:0003690","HP:0003700","HP:0003712","HP:0003756","HP:0003781","HP:0003798","HP:0004308","HP:0005216","HP:0006671","HP:0006690","HP:0006775","HP:0006785","HP:0011951","HP:0020203","HP:0025169","HP:0034392","HP:0100295","HP:0100297","HP:0100543","HP:0100614"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1992,"reference":{"label":"OMIA:001081-9615","url":"https://omia.org/OMIA001081/9615/"},"species":"NCBITaxon:9615","summary":"Muscular dystrophy, Duchenne type. Expected gene DMD (ENSCAFG00845017750), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Alaskan Husky, Yorkshire Terrier","disease_group_id":"VHCASEGROUP:omia-1097","evaluation":{"discovery_mask_disease_ids":["OMIA:001097-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:0de905bcef9958206b615f227d6e29195684c9139999e61f46fab15bbe4bad63","OMIA:001097-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845016955","id":"case-omia-001097-slc19a3","label":"Necrotising encephalopathy, subacute, of Leigh","phenotypes":{"excluded":[],"present":["HP:0001288","HP:0002529","HP:0003287","HP:0003690","HP:0006789","HP:0006976"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001097-9615","url":"https://omia.org/OMIA001097/9615/"},"species":"NCBITaxon:9615","summary":"Necrotising encephalopathy, subacute, of Leigh. Expected gene SLC19A3 (ENSCAFG00845016955), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Cocker Spaniel, Navasota (mixed breed), Samoyed","disease_group_id":"VHCASEGROUP:omia-1112","evaluation":{"discovery_mask_disease_ids":["OMIA:001112-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:803d0c363e0ac9a2f014d1a8222dcd9bf12a998b88392241f3f21cdb93a834fb","OMIA:001112-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020584","id":"case-omia-001112-col4a5","label":"Nephritis, X-linked","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000097","HP:0000407","HP:0001757","HP:0002907","HP:0003774","HP:0011501","HP:0012622","HP:0032417","HP:0033321","HP:0033495"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1994,"reference":{"label":"OMIA:001112-9615","url":"https://omia.org/OMIA001112/9615/"},"species":"NCBITaxon:9615","summary":"Nephritis, X-linked. Expected gene COL4A5 (ENSCAFG00845020584), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Nova Scotia Duck Tolling Retriever","disease_group_id":"VHCASEGROUP:omia-1140","evaluation":{"discovery_mask_disease_ids":["OMIA:001140-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6d3fc89cf39b84b61f1e03667bcd826dbdb96a7d364d12dd85857f7fc7d932e1","OMIA:001140-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029722","id":"case-omia-001140-adamts20","label":"Cleft lip with or without cleft palate, ADAMTS20-related","phenotypes":{"excluded":[],"present":["HP:0000175","HP:0000202","HP:0000324","HP:0410030"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001140-9615","url":"https://omia.org/OMIA001140/9615/"},"species":"NCBITaxon:9615","summary":"Cleft lip with or without cleft palate, ADAMTS20-related. Expected gene ADAMTS20 (ENSCAFG00845029722), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Beagle, Bernese Mountain Dog, Chihuahua","disease_group_id":"VHCASEGROUP:omia-1208","evaluation":{"discovery_mask_disease_ids":["OMIA:001208-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ec40967c0b7a415a6a54010f3de02ffdaf8ccdda4519c97de0eb6c7cadf5efed","OMIA:001208-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845006442","id":"case-omia-001208-gfap","label":"Alexander disease","phenotypes":{"excluded":[],"present":["HP:0000707","HP:0001336","HP:0002073","HP:0002878","HP:0003202","HP:0003700","HP:0011951","HP:0100320"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:001208-9615","url":"https://omia.org/OMIA001208/9615/"},"species":"NCBITaxon:9615","summary":"Alexander disease. Expected gene GFAP (ENSCAFG00845006442), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Briard","disease_group_id":"VHCASEGROUP:omia-1222","evaluation":{"discovery_mask_disease_ids":["OMIA:001222-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a9b385f6ee7f65eab98fbd5af15edd6c32afc9f18432175fbcc768cdfab9d875","OMIA:001222-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013646","id":"case-omia-001222-rpe65","label":"Leber congenital amaurosis","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000510","HP:0000546","HP:0000556","HP:0000662","HP:0001105","HP:0001141","HP:0007642","HP:0007875","HP:0012043","HP:0100513"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1998,"reference":{"label":"OMIA:001222-9615","url":"https://omia.org/OMIA001222/9615/"},"species":"NCBITaxon:9615","summary":"Leber congenital amaurosis. Expected gene RPE65 (ENSCAFG00845013646), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Flat-Coated Retriever, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1258","evaluation":{"discovery_mask_disease_ids":["OMIA:001258-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b8645cf2167997b447bbc32dc13ff9380814ba6709ff9cef55d0ec7a85e97f95","OMIA:001258-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025117","id":"case-omia-001258-adcy3","label":"Obesity","phenotypes":{"excluded":[],"present":["HP:0000819","HP:0001385","HP:0004324"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:001258-9615","url":"https://omia.org/OMIA001258/9615/"},"species":"NCBITaxon:9615","summary":"Obesity. Expected gene ADCY3 (ENSCAFG00845025117), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Flat-Coated Retriever, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1258","evaluation":{"discovery_mask_disease_ids":["OMIA:001258-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b3688d167672e6b73a52a4d91e2a07f2b440d7b3779e46d447f0ca22d6784413","OMIA:001258-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845000932","id":"case-omia-001258-dennd1b","label":"Obesity","phenotypes":{"excluded":[],"present":["HP:0000819","HP:0001385","HP:0004324"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:001258-9615","url":"https://omia.org/OMIA001258/9615/"},"species":"NCBITaxon:9615","summary":"Obesity. Expected gene DENND1B (ENSCAFG00845000932), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Flat-Coated Retriever, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1258","evaluation":{"discovery_mask_disease_ids":["OMIA:001258-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:19b6f2c95fdd5568e11b0625c850eb8d253181985e15535c724665c73abef952","OMIA:001258-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845026092","id":"case-omia-001258-pomc","label":"Obesity","phenotypes":{"excluded":[],"present":["HP:0000819","HP:0001385","HP:0004324"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:001258-9615","url":"https://omia.org/OMIA001258/9615/"},"species":"NCBITaxon:9615","summary":"Obesity. Expected gene POMC (ENSCAFG00845026092), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"American Hairless Terrier, Rat Terrier, Scottish Deerhound","disease_group_id":"VHCASEGROUP:omia-1279","evaluation":{"discovery_mask_disease_ids":["OMIA:001279-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d8db99d84f1b2c5fe24732a57e6011c8ffd69314d3694c80153e0eca8d5d67b8","OMIA:001279-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845019652","id":"case-omia-001279-sgk3","label":"Hypotrichosis, recessive","phenotypes":{"excluded":[],"present":["HP:0000968","HP:0001596","HP:0008070"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:001279-9615","url":"https://omia.org/OMIA001279/9615/"},"species":"NCBITaxon:9615","summary":"Hypotrichosis, recessive. Expected gene SGK3 (ENSCAFG00845019652), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Norwegian Elkhound","disease_group_id":"VHCASEGROUP:omia-1297","evaluation":{"discovery_mask_disease_ids":["OMIA:001297-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7aa299fbee8b1b1ba1e8e3f527d33a9c074eacacacc31b8ff19e8d7e4c8e35e0","OMIA:001297-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025108","id":"case-omia-001297-stk38l","label":"Early retinal degeneration","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0000572","HP:0000662","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001297-9615","url":"https://omia.org/OMIA001297/9615/"},"species":"NCBITaxon:9615","summary":"Early retinal degeneration. Expected gene STK38L (ENSCAFG00845025108), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"American Cocker Spaniel, American Eskimo Dog, Australian Cattle Dog","disease_group_id":"VHCASEGROUP:omia-1298","evaluation":{"discovery_mask_disease_ids":["OMIA:001298-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:acc6e07aa4e0bfedb857b3506a3d28271f8a2156603106cb54e0e06ce458422f","OMIA:001298-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017103","id":"case-omia-001298-prcd","label":"Progressive rod-cone degeneration, PRCD-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000546","HP:0000572","HP:0000662","HP:0001105","HP:0003002","HP:0012047"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2006,"reference":{"label":"OMIA:001298-9615","url":"https://omia.org/OMIA001298/9615/"},"species":"NCBITaxon:9615","summary":"Progressive rod-cone degeneration, PRCD-related. Expected gene PRCD (ENSCAFG00845017103), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Dachshund, Wire-Haired, Huntaway","disease_group_id":"VHCASEGROUP:omia-1309","evaluation":{"discovery_mask_disease_ids":["OMIA:001309-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:abe2538f301b1ffd7d62e07043fb8799f783944dd7baeed04576a7a9d48325ff","OMIA:001309-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013218","id":"case-omia-001309-sgsh","label":"Mucopolysaccharidosis IIIA","phenotypes":{"excluded":[],"present":["HP:0001268","HP:0002070","HP:0002080","HP:0002120","HP:0002344","HP:0003651","HP:0007009","HP:6000717"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2000,"reference":{"label":"OMIA:001309-9615","url":"https://omia.org/OMIA001309/9615/"},"species":"NCBITaxon:9615","summary":"Mucopolysaccharidosis IIIA. Expected gene SGSH (ENSCAFG00845013218), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Miniature Schnauzer","disease_group_id":"VHCASEGROUP:omia-1311","evaluation":{"discovery_mask_disease_ids":["OMIA:001311-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6260acf89e9973da764a7653311e35d56ffeb567c6f36c7e5746a8dda12e3efc","OMIA:001311-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010701","id":"case-omia-001311-ppt1","label":"Photoreceptor dysplasia, PPT1-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000510","HP:0000546","HP:0001105","HP:0030329"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:001311-9615","url":"https://omia.org/OMIA001311/9615/"},"species":"NCBITaxon:9615","summary":"Photoreceptor dysplasia, PPT1-related. Expected gene PPT1 (ENSCAFG00845010701), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Cardigan Welsh Corgi, Chinese Crested, Pomeranian","disease_group_id":"VHCASEGROUP:omia-1314","evaluation":{"discovery_mask_disease_ids":["OMIA:001314-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c4457383e657dc01a657577595aac61bb477da1bb2eb0a2594a8e8b549d30369","OMIA:001314-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008935","id":"case-omia-001314-pde6a","label":"Retinal atrophy - Rod-cone dysplasia 3, PDE6A-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":1999,"reference":{"label":"OMIA:001314-9615","url":"https://omia.org/OMIA001314/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Rod-cone dysplasia 3, PDE6A-related. Expected gene PDE6A (ENSCAFG00845008935), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Australian Shepherd, Beagle, Bichon Frise","disease_group_id":"VHCASEGROUP:omia-1335","evaluation":{"discovery_mask_disease_ids":["OMIA:001335-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:5872d7a0e0f41d2162877a00268bb49cd9b83c940b7ceb3abc532401db2cb4ed","OMIA:001335-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024691","id":"case-omia-001335-flcn","label":"Renal cystadenocarcinoma and nodular dermatofibrosis","phenotypes":{"excluded":[],"present":["HP:0000131","HP:0001970","HP:0005562","HP:0008069","HP:0009726"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2003,"reference":{"label":"OMIA:001335-9615","url":"https://omia.org/OMIA001335/9615/"},"species":"NCBITaxon:9615","summary":"Renal cystadenocarcinoma and nodular dermatofibrosis. Expected gene FLCN (ENSCAFG00845024691), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Schipperke","disease_group_id":"VHCASEGROUP:omia-1342","evaluation":{"discovery_mask_disease_ids":["OMIA:001342-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:356b624dd2f1dd2d22cc1f906f74dba719621a6b4ed335f6065a521f272aa5a9","OMIA:001342-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008828","id":"case-omia-001342-naglu","label":"Mucopolysaccharidosis IIIB","phenotypes":{"excluded":[],"present":["HP:0000546","HP:0001268","HP:0001272","HP:0002070"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2020,"reference":{"label":"OMIA:001342-9615","url":"https://omia.org/OMIA001342/9615/"},"species":"NCBITaxon:9615","summary":"Mucopolysaccharidosis IIIB. Expected gene NAGLU (ENSCAFG00845008828), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Bull Mastiff, English Mastiff","disease_group_id":"VHCASEGROUP:omia-1346","evaluation":{"discovery_mask_disease_ids":["OMIA:001346-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6306438c19cd6aff78ee44b2e9c7e2ef399c88c33792a363c8b5d84ec09c9048","OMIA:001346-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845027581","id":"case-omia-001346-rho","label":"Retinal atrophy, progressive, autosomal dominant, RHO-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000572","HP:0001105","HP:0001878"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2002,"reference":{"label":"OMIA:001346-9615","url":"https://omia.org/OMIA001346/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, autosomal dominant, RHO-related. Expected gene RHO (ENSCAFG00845027581), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Staffordshire Bull Terrier, West Highland White Terrier, Yorkshire Terrier","disease_group_id":"VHCASEGROUP:omia-1371","evaluation":{"discovery_mask_disease_ids":["OMIA:001371-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:86fedc023b7b371fc5cded22a5ba0eb174d660864114705abc66e68f1578792d","OMIA:001371-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002841","id":"case-omia-001371-l2hgdh","label":"L-2-hydroxyglutaricacidemia","phenotypes":{"excluded":[],"present":["HP:0000708","HP:0000718","HP:0040144"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:001371-9615","url":"https://omia.org/OMIA001371/9615/"},"species":"NCBITaxon:9615","summary":"L-2-hydroxyglutaricacidemia. Expected gene L2HGDH (ENSCAFG00845002841), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Greyhound, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1373","evaluation":{"discovery_mask_disease_ids":["OMIA:001373-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:95f25903bbcc8a97d6be461c29b15918708454678e1514968310431ec6a1d877","OMIA:001373-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845014927","id":"case-omia-001373-suv39h2","label":"Nasal parakeratosis","phenotypes":{"excluded":[],"present":["HP:0001051","HP:0007417","HP:0040009"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001373-9615","url":"https://omia.org/OMIA001373/9615/"},"species":"NCBITaxon:9615","summary":"Nasal parakeratosis. Expected gene SUV39H2 (ENSCAFG00845014927), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1374","evaluation":{"discovery_mask_disease_ids":["OMIA:001374-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b13a3fe19e92eb84910e6d7fe3f90f232ec7cf4a28937332b56d2bb95d535077","OMIA:001374-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013804","id":"case-omia-001374-hacd1","label":"Centronuclear myopathy, HACD1-related","phenotypes":{"excluded":[],"present":["HP:0000234","HP:0001288","HP:0001324","HP:0001699","HP:0002540","HP:0003202","HP:0003324","HP:0003546","HP:0003557","HP:0003560","HP:0003687","HP:0006785","HP:0033685"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:001374-9615","url":"https://omia.org/OMIA001374/9615/"},"species":"NCBITaxon:9615","summary":"Centronuclear myopathy, HACD1-related. Expected gene HACD1 (ENSCAFG00845013804), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Australian Shepherd, Border Collie, Collie","disease_group_id":"VHCASEGROUP:omia-1402","evaluation":{"discovery_mask_disease_ids":["OMIA:001402-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:f8321ed879d7205639d8c041943c2fb907cf5f12ab69eb68a6915d120ab1234d","OMIA:001402-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007972","id":"case-omia-001402-abcb1","label":"Multidrug resistance 1, ABCB1-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000707","HP:0001105","HP:0001288","HP:0002133","HP:0003376","HP:0020174"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2001,"reference":{"label":"OMIA:001402-9615","url":"https://omia.org/OMIA001402/9615/"},"species":"NCBITaxon:9615","summary":"Multidrug resistance 1, ABCB1-related. Expected gene ABCB1 (ENSCAFG00845007972), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Clumber Spaniel, Sussex Spaniel","disease_group_id":"VHCASEGROUP:omia-1406","evaluation":{"discovery_mask_disease_ids":["OMIA:001406-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d82ccffa1c1dc1ddcccd7684287affbef495403668f60c32e33adc2f113febcc","OMIA:001406-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845014567","id":"case-omia-001406-pdp1","label":"Pyruvate dehydrogenase deficiency","phenotypes":{"excluded":[],"present":["HP:0003128","HP:0003546","HP:0003737"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:001406-9615","url":"https://omia.org/OMIA001406/9615/"},"species":"NCBITaxon:9615","summary":"Pyruvate dehydrogenase deficiency. Expected gene PDP1 (ENSCAFG00845014567), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Border Collie, Huntaway, New Zealand Heading Dog","disease_group_id":"VHCASEGROUP:omia-1428","evaluation":{"discovery_mask_disease_ids":["OMIA:001428-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b006511830b004d83be32c4c853f8a959a47aa2134dc3b77950447cb70af719d","OMIA:001428-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025516","id":"case-omia-001428-vps13b","label":"Trapped Neutrophil Syndrome","phenotypes":{"excluded":[],"present":["HP:0001249","HP:0001288","HP:0001386","HP:0001508","HP:0001875","HP:0002718","HP:0002719","HP:0003095","HP:0031020","HP:0040289","HP:0410252"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001428-9615","url":"https://omia.org/OMIA001428/9615/"},"species":"NCBITaxon:9615","summary":"Trapped Neutrophil Syndrome. Expected gene VPS13B (ENSCAFG00845025516), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Dachshund, Miniature Long-Haired, English Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-1432","evaluation":{"discovery_mask_disease_ids":["OMIA:001432-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c05e4a1f768c6c16061a108b14496f5f239d63118b71084d29b0df2b7a6469c5","OMIA:001432-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010211","id":"case-omia-001432-map9","label":"Retinal atrophy - Cone-rod dystrophy 4","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0000548","HP:0000648","HP:0001105","HP:0007875","HP:0012019"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2006,"reference":{"label":"OMIA:001432-9615","url":"https://omia.org/OMIA001432/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Cone-rod dystrophy 4. Expected gene MAP9 (ENSCAFG00845010211), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Dachshund, Miniature Long-Haired, English Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-1432","evaluation":{"discovery_mask_disease_ids":["OMIA:001432-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3d805352e58968583a1ce460b079bcfd0b23fcc1d5d34001032a6c124deed4e6","OMIA:001432-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025061","id":"case-omia-001432-rpgrip1","label":"Retinal atrophy - Cone-rod dystrophy 4","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0000548","HP:0000648","HP:0001105","HP:0007875","HP:0012019"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2006,"reference":{"label":"OMIA:001432-9615","url":"https://omia.org/OMIA001432/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Cone-rod dystrophy 4. Expected gene RPGRIP1 (ENSCAFG00845025061), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Australian Shepherd, Schapendoes","disease_group_id":"VHCASEGROUP:omia-1443","evaluation":{"discovery_mask_disease_ids":["OMIA:001443-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:92dfbdc7bcbe50c9e7b7d7fc264afe7ca318268877385fac860c088c1433d86f","OMIA:001443-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845018935","id":"case-omia-001443-cln6","label":"Neuronal ceroid lipofuscinosis, 6","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0002283","HP:0012444","HP:0100543"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001443-9615","url":"https://omia.org/OMIA001443/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 6. Expected gene CLN6 (ENSCAFG00845018935), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Dachshund, Miniature Wire-Haired, Dachshund, Standard Wire-Haired","disease_group_id":"VHCASEGROUP:omia-1455","evaluation":{"discovery_mask_disease_ids":["OMIA:001455-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:26fba41e9e1a1fd19207454a75249c596d096fe95c73edb046a291a8aede6c09","OMIA:001455-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021358","id":"case-omia-001455-nphp4","label":"Retinal atrophy - Cone-rod dystrophy, NPHP4-related","phenotypes":{"excluded":[],"present":["HP:0000548","HP:0001105","HP:0012047"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2008,"reference":{"label":"OMIA:001455-9615","url":"https://omia.org/OMIA001455/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Cone-rod dystrophy, NPHP4-related. Expected gene NPHP4 (ENSCAFG00845021358), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Border Collie, Boykin Spaniel, Chesapeake Bay Retriever","disease_group_id":"VHCASEGROUP:omia-1466","evaluation":{"discovery_mask_disease_ids":["OMIA:001466-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:698be0ef5fb47ddaee65b7aa3db8a8eff5c7cdf5adfe3193a6bc64c8c05ec42f","OMIA:001466-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029334","id":"case-omia-001466-dnm1","label":"Exercise-induced collapse","phenotypes":{"excluded":[],"present":["HP:0001252","HP:0001288","HP:0001324","HP:0001950","HP:0003546","HP:0007185","HP:0011703"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2008,"reference":{"label":"OMIA:001466-9615","url":"https://omia.org/OMIA001466/9615/"},"species":"NCBITaxon:9615","summary":"Exercise-induced collapse. Expected gene DNM1 (ENSCAFG00845029334), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Chinese Crested, Ibizan Hound, Kerry Blue Terrier","disease_group_id":"VHCASEGROUP:omia-1468","evaluation":{"discovery_mask_disease_ids":["OMIA:001468-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ccea39a9a9e54be761f12b1f7710abc143fe05f1c7ce5c10cbc8608a9afe2828","OMIA:001468-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001134","id":"case-omia-001468-serac1","label":"Multiple system degeneration, SERAC1-related","phenotypes":{"excluded":[],"present":["HP:0000164","HP:0000968","HP:0001251","HP:0001272","HP:0002059","HP:0002080","HP:0002529","HP:0003535","HP:0008070","HP:0008303","HP:0100022"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001468-9615","url":"https://omia.org/OMIA001468/9615/"},"species":"NCBITaxon:9615","summary":"Multiple system degeneration, SERAC1-related. Expected gene SERAC1 (ENSCAFG00845001134), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Poodle, Standard","disease_group_id":"VHCASEGROUP:omia-1471","evaluation":{"discovery_mask_disease_ids":["OMIA:001471-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b63cd321dba18ec737dd16b4498c3b5801644f49e2f5fc0016e1623327f1e1c4","OMIA:001471-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017708","id":"case-omia-001471-atf2","label":"Neonatal encephalopathy with seizures, ATF2-related","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0002119","HP:0002539","HP:0003327","HP:0200134"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2008,"reference":{"label":"OMIA:001471-9615","url":"https://omia.org/OMIA001471/9615/"},"species":"NCBITaxon:9615","summary":"Neonatal encephalopathy with seizures, ATF2-related. Expected gene ATF2 (ENSCAFG00845017708), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Dachshund","disease_group_id":"VHCASEGROUP:omia-1472","evaluation":{"discovery_mask_disease_ids":["OMIA:001472-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c0ae8bc930b48ae016139d906451ab536aaea97549aa9a191499f12a83ad3d56","OMIA:001472-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008889","id":"case-omia-001472-tpp1","label":"Neuronal ceroid lipofuscinosis, 2","phenotypes":{"excluded":[],"present":["HP:0000529","HP:0000541","HP:0000546","HP:0000572","HP:0000654","HP:0000718","HP:0001105","HP:0001251","HP:0001268","HP:0002123","HP:0002344","HP:0002383","HP:0012444","HP:0030329","HP:0100543"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2006,"reference":{"label":"OMIA:001472-9615","url":"https://omia.org/OMIA001472/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 2. Expected gene TPP1 (ENSCAFG00845008889), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Brussels Griffon, Chihuahua, Petit Brabancon","disease_group_id":"VHCASEGROUP:omia-1473","evaluation":{"discovery_mask_disease_ids":["OMIA:001473-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7d86125a213427bf6249c622796dfbe08d2bb2242198be1dfebe317232ae0120","OMIA:001473-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021230","id":"case-omia-001473-gh1","label":"Dwarfism, growth-hormone deficiency","phenotypes":{"excluded":[],"present":["HP:0000270","HP:0000824","HP:0006335","HP:0030353"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2020,"reference":{"label":"OMIA:001473-9615","url":"https://omia.org/OMIA001473/9615/"},"species":"NCBITaxon:9615","summary":"Dwarfism, growth-hormone deficiency. Expected gene GH1 (ENSCAFG00845021230), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} | |
| {"breed":"German Shepherd Dog, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1481","evaluation":{"discovery_mask_disease_ids":["OMIA:001481-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:938ba18c8dbf467dc636daca1807ebf3125f6dccfecf1aef9a350aaeb9306108","OMIA:001481-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020028","id":"case-omia-001481-cnga3","label":"Achromatopsia-2, CNGA3-related","phenotypes":{"excluded":[],"present":["HP:0001141","HP:0007641","HP:0007663"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001481-9615","url":"https://omia.org/OMIA001481/9615/"},"species":"NCBITaxon:9615","summary":"Achromatopsia-2, CNGA3-related. Expected gene CNGA3 (ENSCAFG00845020028), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Australian Cattle Dog, Border Collie, Golden Retriever","disease_group_id":"VHCASEGROUP:omia-1482","evaluation":{"discovery_mask_disease_ids":["OMIA:001482-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d72ffb3fce2ee534f9e29c1365a9f924dd3f6ef260b0936ade000065350ffc17","OMIA:001482-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845026181","id":"case-omia-001482-cln5","label":"Neuronal ceroid lipofuscinosis, 5","phenotypes":{"excluded":[],"present":["HP:0000713","HP:0000718","HP:0000722","HP:0000733","HP:0000739","HP:0001272","HP:0002069","HP:0002119","HP:0002283","HP:0002311","HP:0002312","HP:0007015","HP:0007359","HP:0010544","HP:0011512","HP:0033044","HP:0034332","HP:0100754"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2005,"reference":{"label":"OMIA:001482-9615","url":"https://omia.org/OMIA001482/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 5. Expected gene CLN5 (ENSCAFG00845026181), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} | |
| {"breed":"Dachshund","disease_group_id":"VHCASEGROUP:omia-1483","evaluation":{"discovery_mask_disease_ids":["OMIA:001483-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ad813e0fce78685655026413c826a9bcb0e476e619b70a4835f600bcc303c05c","OMIA:001483-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845011365","id":"case-omia-001483-serpinh1","label":"Osteogenesis imperfecta, SERPINH1-related","phenotypes":{"excluded":[],"present":["HP:0000703","HP:0000938","HP:0001382","HP:0001730","HP:0002659","HP:0002757"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2009,"reference":{"label":"OMIA:001483-9615","url":"https://omia.org/OMIA001483/9615/"},"species":"NCBITaxon:9615","summary":"Osteogenesis imperfecta, SERPINH1-related. Expected gene SERPINH1 (ENSCAFG00845011365), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Dalmatian, Dogo Argentino","disease_group_id":"VHCASEGROUP:omia-1485","evaluation":{"discovery_mask_disease_ids":["OMIA:001485-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ecb8b2db0e1f71a2135b2a6cdd1120144c1828dea879265fdf8a9b6e10ccbf8d","OMIA:001485-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845018088","id":"case-omia-001485-prkg2","label":"Dwarfism, PRKG2-related","phenotypes":{"excluded":[],"present":["HP:0001288","HP:0002652","HP:0004322","HP:0006385"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:001485-9615","url":"https://omia.org/OMIA001485/9615/"},"species":"NCBITaxon:9615","summary":"Dwarfism, PRKG2-related. Expected gene PRKG2 (ENSCAFG00845018088), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Beagle","disease_group_id":"VHCASEGROUP:omia-1486","evaluation":{"discovery_mask_disease_ids":["OMIA:001486-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6be9e4c2268f9070e2ba61502006ba57ad31953d853f252f3721413abde22b70","OMIA:001486-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845030077","id":"case-omia-001486-lrit3","label":"Night blindness, congenital stationary, LRIT3-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000662","HP:0007642"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:001486-9615","url":"https://omia.org/OMIA001486/9615/"},"species":"NCBITaxon:9615","summary":"Night blindness, congenital stationary, LRIT3-related. Expected gene LRIT3 (ENSCAFG00845030077), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"American Staffordshire Terrier","disease_group_id":"VHCASEGROUP:omia-1503","evaluation":{"discovery_mask_disease_ids":["OMIA:001503-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c00c3207079fb5a2538582d6790befa318bb161f0007418a8744e81cada6538e","OMIA:001503-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029010","id":"case-omia-001503-arsg","label":"Lysosomal storage disease, ARSG related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000510","HP:0000529","HP:0000572","HP:0000640","HP:0000708","HP:0001251","HP:0001272","HP:0001288","HP:0002073","HP:0002080","HP:0002333","HP:0002529"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001503-9615","url":"https://omia.org/OMIA001503/9615/"},"species":"NCBITaxon:9615","summary":"Lysosomal storage disease, ARSG related. Expected gene ARSG (ENSCAFG00845029010), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Dachshund, Italian Cane Corso","disease_group_id":"VHCASEGROUP:omia-1504","evaluation":{"discovery_mask_disease_ids":["OMIA:001504-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c5e8e2f256d1dee5b35c4dcc3e2f32847735b14fbe6967bc04f01adbe3427c8c","OMIA:001504-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010701","id":"case-omia-001504-ppt1","label":"Neuronal ceroid lipofuscinosis, 1","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000529","HP:0000618","HP:0000728","HP:0000739","HP:0001251","HP:0001337","HP:0002311","HP:0002457","HP:0002509","HP:0003204","HP:0003324","HP:0003551","HP:0008046","HP:0030329","HP:0033044","HP:0033329","HP:0034332"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2010,"reference":{"label":"OMIA:001504-9615","url":"https://omia.org/OMIA001504/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 1. Expected gene PPT1 (ENSCAFG00845010701), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} | |
| {"breed":"Alpine Dachsbracke, Australian Shepherd, English Setter","disease_group_id":"VHCASEGROUP:omia-1506","evaluation":{"discovery_mask_disease_ids":["OMIA:001506-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c0bb6e8f87bc416291eb1124518d8390d95be589a3678b937d0a57be4b1bb715","OMIA:001506-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845019093","id":"case-omia-001506-cln8","label":"Neuronal ceroid lipofuscinosis, 8","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000510","HP:0000546","HP:0000572","HP:0000708","HP:0000726","HP:0001105","HP:0001268","HP:0001324","HP:0002059","HP:0002529","HP:0007190","HP:0008020","HP:0012444"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:001506-9615","url":"https://omia.org/OMIA001506/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 8. Expected gene CLN8 (ENSCAFG00845019093), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Boykin Spaniel, Labrador Retriever, Rottweiler","disease_group_id":"VHCASEGROUP:omia-1508","evaluation":{"discovery_mask_disease_ids":["OMIA:001508-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:92841ce3526afd2919714cc999404f282eef6c819c60bc79162cb47d0fbf5efd","OMIA:001508-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023123","id":"case-omia-001508-mtm1","label":"Myotubular myopathy 1","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0002878","HP:0003202","HP:0003324","HP:0003736"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001508-9615","url":"https://omia.org/OMIA001508/9615/"},"species":"NCBITaxon:9615","summary":"Myotubular myopathy 1. Expected gene MTM1 (ENSCAFG00845023123), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Beagle","disease_group_id":"VHCASEGROUP:omia-1509","evaluation":{"discovery_mask_disease_ids":["OMIA:001509-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:eb6ae13e5fc05fd7b327039b4a29edb8cb48c64e525149a43c802d1cc5738d0e","OMIA:001509-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010741","id":"case-omia-001509-adamtsl2","label":"Geleophysic dysplasia, ADMATSL2-related","phenotypes":{"excluded":[],"present":["HP:0000028","HP:0001387","HP:0004322","HP:0030051","HP:0030053","HP:0031295"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001509-9615","url":"https://omia.org/OMIA001509/9615/"},"species":"NCBITaxon:9615","summary":"Geleophysic dysplasia, ADMATSL2-related. Expected gene ADAMTSL2 (ENSCAFG00845010741), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Beagle, Scottish Terrier, Shetland Sheepdog","disease_group_id":"VHCASEGROUP:omia-1512","evaluation":{"discovery_mask_disease_ids":["OMIA:001512-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a2fdb7fa5c44ee4e04092c99fe0f81b8cb493dc668d19a406b0b09ca2ba66bcc","OMIA:001512-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845031038","id":"case-omia-001512-braf","label":"Transitional cell carcinoma","phenotypes":{"excluded":[],"present":["HP:0002860","HP:0006740","HP:0009725","HP:0010474","HP:0012125","HP:0020174","HP:0100515"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001512-9615","url":"https://omia.org/OMIA001512/9615/"},"species":"NCBITaxon:9615","summary":"Transitional cell carcinoma. Expected gene BRAF (ENSCAFG00845031038), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Beagle, Scottish Terrier, Shetland Sheepdog","disease_group_id":"VHCASEGROUP:omia-1512","evaluation":{"discovery_mask_disease_ids":["OMIA:001512-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:69a9f52bbe723522be0084c71ece9baf8e6ba8b4a9441447388ebf053d9247a8","OMIA:001512-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015371","id":"case-omia-001512-map2k1","label":"Transitional cell carcinoma","phenotypes":{"excluded":[],"present":["HP:0002860","HP:0006740","HP:0009725","HP:0010474","HP:0012125","HP:0020174","HP:0100515"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001512-9615","url":"https://omia.org/OMIA001512/9615/"},"species":"NCBITaxon:9615","summary":"Transitional cell carcinoma. Expected gene MAP2K1 (ENSCAFG00845015371), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Beagle, Scottish Terrier, Shetland Sheepdog","disease_group_id":"VHCASEGROUP:omia-1512","evaluation":{"discovery_mask_disease_ids":["OMIA:001512-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e02332492eb70740f7159adbcf8d826e8aeca57d884461705ba4000faea2cc20","OMIA:001512-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009684","id":"case-omia-001512-nipal1","label":"Transitional cell carcinoma","phenotypes":{"excluded":[],"present":["HP:0002860","HP:0006740","HP:0009725","HP:0010474","HP:0012125","HP:0020174","HP:0100515"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001512-9615","url":"https://omia.org/OMIA001512/9615/"},"species":"NCBITaxon:9615","summary":"Transitional cell carcinoma. Expected gene NIPAL1 (ENSCAFG00845009684), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Portuguese Water Dog, Schapendoes","disease_group_id":"VHCASEGROUP:omia-1521","evaluation":{"discovery_mask_disease_ids":["OMIA:001521-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7b573862a89dcd08e0ec6118a56351e0b9d00e0b0423ffdf2622f02a6fab257a","OMIA:001521-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024810","id":"case-omia-001521-ccdc66","label":"Retinal atrophy, progressive, CCDC66-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000529","HP:0000543","HP:0000572","HP:0000662","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001521-9615","url":"https://omia.org/OMIA001521/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, CCDC66-related. Expected gene CCDC66 (ENSCAFG00845024810), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Labrador Retriever, Northern Inuit Dog","disease_group_id":"VHCASEGROUP:omia-1522","evaluation":{"discovery_mask_disease_ids":["OMIA:001522-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7f3fcbd9cea3e49fbb8333da8a6146f93752f25b71832eead45849b7af509843","OMIA:001522-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845018010","id":"case-omia-001522-col9a3","label":"Oculoskeletal dysplasia 1","phenotypes":{"excluded":[],"present":["HP:0000541","HP:0000924","HP:0001263","HP:0001385","HP:0001510","HP:0002652","HP:0002984","HP:0007968","HP:0008873","HP:0030832","HP:0100719"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001522-9615","url":"https://omia.org/OMIA001522/9615/"},"species":"NCBITaxon:9615","summary":"Oculoskeletal dysplasia 1. Expected gene COL9A3 (ENSCAFG00845018010), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Samoyed","disease_group_id":"VHCASEGROUP:omia-1523","evaluation":{"discovery_mask_disease_ids":["OMIA:001523-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:0b806b992b28a08e95f89106be3edde7f1bf1d4ce9c3955fe8a6863465364ea9","OMIA:001523-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010158","id":"case-omia-001523-col9a2","label":"Oculoskeletal dysplasia 2","phenotypes":{"excluded":[],"present":["HP:0000541","HP:0001510","HP:0002652","HP:0002984","HP:0004322","HP:0008873"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001523-9615","url":"https://omia.org/OMIA001523/9615/"},"species":"NCBITaxon:9615","summary":"Oculoskeletal dysplasia 2. Expected gene COL9A2 (ENSCAFG00845010158), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Cairn Terrier, Cocker Spaniel, Miniature Schnauzer","disease_group_id":"VHCASEGROUP:omia-1524","evaluation":{"discovery_mask_disease_ids":["OMIA:001524-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:bfda8930c651a47d108ea3947856700372efc18be9ad6f22aba59144a3e5e2b0","OMIA:001524-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007730","id":"case-omia-001524-abcb4","label":"Gallbladder mucoceles","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0001919","HP:0002027","HP:0002910","HP:0003270"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:001524-9615","url":"https://omia.org/OMIA001524/9615/"},"species":"NCBITaxon:9615","summary":"Gallbladder mucoceles. Expected gene ABCB4 (ENSCAFG00845007730), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Old English Sheepdog","disease_group_id":"VHCASEGROUP:omia-1540","evaluation":{"discovery_mask_disease_ids":["OMIA:001540-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:192b094437aafe8408938553b09016d38df756de92db488e1b612d304147a40c","OMIA:001540-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845018860","id":"case-omia-001540-ccdc39","label":"Ciliary dyskinesia, primary, CCDC39-related","phenotypes":{"excluded":[],"present":["HP:0002257","HP:0002719","HP:0012265","HP:0031417"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001540-9615","url":"https://omia.org/OMIA001540/9615/"},"species":"NCBITaxon:9615","summary":"Ciliary dyskinesia, primary, CCDC39-related. Expected gene CCDC39 (ENSCAFG00845018860), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"not stated","disease_group_id":"VHCASEGROUP:omia-1551","evaluation":{"discovery_mask_disease_ids":["OMIA:001551-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b14f7b3929710a1a349924c78c26b592e177036f5f4b680fe31f94632b5f4484","OMIA:001551-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020074","id":"case-omia-001551-dvl2","label":"Brachycephaly","phenotypes":{"excluded":[],"present":["HP:0000175","HP:0000303","HP:0000327","HP:0000388","HP:0000457","HP:0000708","HP:0001627","HP:0001699","HP:0002046","HP:0002098","HP:0002197","HP:0002277","HP:0002682","HP:0002870","HP:0003196","HP:0003468","HP:0003546","HP:0005321","HP:0006511","HP:0006536","HP:0008873","HP:0010535","HP:0010628","HP:0011219","HP:0011410","HP:0011496","HP:0012368","HP:0012804","HP:0031353","HP:0410017","HP:0410030","HP:5210257"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2012,"reference":{"label":"OMIA:001551-9615","url":"https://omia.org/OMIA001551/9615/"},"species":"NCBITaxon:9615","summary":"Brachycephaly. Expected gene DVL2 (ENSCAFG00845020074), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"not stated","disease_group_id":"VHCASEGROUP:omia-1551","evaluation":{"discovery_mask_disease_ids":["OMIA:001551-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:09e1c822c5fef333260110f9ec1967229f46781e62601a4dd52212d8086c9c8d","OMIA:001551-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845005168","id":"case-omia-001551-smoc2","label":"Brachycephaly","phenotypes":{"excluded":[],"present":["HP:0000175","HP:0000303","HP:0000327","HP:0000388","HP:0000457","HP:0000708","HP:0001627","HP:0001699","HP:0002046","HP:0002098","HP:0002197","HP:0002277","HP:0002682","HP:0002870","HP:0003196","HP:0003468","HP:0003546","HP:0005321","HP:0006511","HP:0006536","HP:0008873","HP:0010535","HP:0010628","HP:0011219","HP:0011410","HP:0011496","HP:0012368","HP:0012804","HP:0031353","HP:0410017","HP:0410030","HP:5210257"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2012,"reference":{"label":"OMIA:001551-9615","url":"https://omia.org/OMIA001551/9615/"},"species":"NCBITaxon:9615","summary":"Brachycephaly. Expected gene SMOC2 (ENSCAFG00845005168), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Australian Cattle Dog, Tibetan Terrier","disease_group_id":"VHCASEGROUP:omia-1552","evaluation":{"discovery_mask_disease_ids":["OMIA:001552-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b3fc2d8c42a8983ac43130cf19cf5556dd69aacc906c8511c256538167d70594","OMIA:001552-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845004285","id":"case-omia-001552-atp13a2","label":"Neuronal ceroid lipofuscinosis, 12","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000529","HP:0000546","HP:0000572","HP:0000708","HP:0001105","HP:0001251","HP:0001268","HP:0001272","HP:0002073","HP:0002283","HP:0002344","HP:0002529","HP:0012444","HP:0030515"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001552-9615","url":"https://omia.org/OMIA001552/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 12. Expected gene ATP13A2 (ENSCAFG00845004285), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Chinese Shar-Pei","disease_group_id":"VHCASEGROUP:omia-1561","evaluation":{"discovery_mask_disease_ids":["OMIA:001561-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3ce23fb3e75f09f2b659cdc01149653ec623f11c51f5f4e5bc6bc8eaaa8db443","OMIA:001561-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008598","id":"case-omia-001561-has2","label":"Periodic Fever Syndrome","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000100","HP:0001072","HP:0001369","HP:0001917","HP:0001954","HP:0011034","HP:0032323"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001561-9615","url":"https://omia.org/OMIA001561/9615/"},"species":"NCBITaxon:9615","summary":"Periodic Fever Syndrome. Expected gene HAS2 (ENSCAFG00845008598), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Chinese Shar-Pei","disease_group_id":"VHCASEGROUP:omia-1561","evaluation":{"discovery_mask_disease_ids":["OMIA:001561-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:41bee012e240cfe32a927323de09c37cf9850be8a227256dd155b09d896bd143","OMIA:001561-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008381","id":"case-omia-001561-mtbp","label":"Periodic Fever Syndrome","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000100","HP:0001072","HP:0001369","HP:0001917","HP:0001954","HP:0011034","HP:0032323"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001561-9615","url":"https://omia.org/OMIA001561/9615/"},"species":"NCBITaxon:9615","summary":"Periodic Fever Syndrome. Expected gene MTBP (ENSCAFG00845008381), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Golden Retriever","disease_group_id":"VHCASEGROUP:omia-1572","evaluation":{"discovery_mask_disease_ids":["OMIA:001572-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:845c7bea90950eb077f7d48e8869c54818272a7fde291b8146a92c9deb15581e","OMIA:001572-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845030591","id":"case-omia-001572-slc4a3","label":"Retinal atrophy, progressive, SLC4A3-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0000572","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001572-9615","url":"https://omia.org/OMIA001572/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, SLC4A3-related. Expected gene SLC4A3 (ENSCAFG00845030591), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Curly Coated Retriever","disease_group_id":"VHCASEGROUP:omia-1577","evaluation":{"discovery_mask_disease_ids":["OMIA:001577-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ca6da9201064c2b02ecdb2a55d5bbc3f846a82ca6fdfcb574a9908882c5ba210","OMIA:001577-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013603","id":"case-omia-001577-agl","label":"Glycogen storage disease IIIa","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0001394","HP:0001395","HP:0003546","HP:0003756"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2007,"reference":{"label":"OMIA:001577-9615","url":"https://omia.org/OMIA001577/9615/"},"species":"NCBITaxon:9615","summary":"Glycogen storage disease IIIa. Expected gene AGL (ENSCAFG00845013603), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Golden Retriever, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-1588","evaluation":{"discovery_mask_disease_ids":["OMIA:001588-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9b0040357f9775fe19b455fe98723e50f3e212bd98035f4bbbfc6220261c23dc","OMIA:001588-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008874","id":"case-omia-001588-pnpla1","label":"Ichthyosis, PNPLA1-related","phenotypes":{"excluded":[],"present":["HP:0000962","HP:0007431","HP:0025080","HP:0025809","HP:0040189"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2012,"reference":{"label":"OMIA:001588-9615","url":"https://omia.org/OMIA001588/9615/"},"species":"NCBITaxon:9615","summary":"Ichthyosis, PNPLA1-related. Expected gene PNPLA1 (ENSCAFG00845008874), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Lagotto Romagnolo","disease_group_id":"VHCASEGROUP:omia-1596","evaluation":{"discovery_mask_disease_ids":["OMIA:001596-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:eab62260abda3d266da3b5880f1b3334fe14f017802838922789b09d684699a5","OMIA:001596-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007610","id":"case-omia-001596-lgi2","label":"Epilepsy, benign familial juvenile, LGI2-related","phenotypes":{"excluded":[],"present":["HP:0002384","HP:0007018","HP:0007359"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001596-9615","url":"https://omia.org/OMIA001596/9615/"},"species":"NCBITaxon:9615","summary":"Epilepsy, benign familial juvenile, LGI2-related. Expected gene LGI2 (ENSCAFG00845007610), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Great Dane","disease_group_id":"VHCASEGROUP:omia-1660","evaluation":{"discovery_mask_disease_ids":["OMIA:001660-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:11e63ebe680b3a478533f405409f67c47e2e4d77b9933adb8defe8ed9331f409","OMIA:001660-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023270","id":"case-omia-001660-bin1","label":"Centronuclear myopathy 2, BIN1-related","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0003202","HP:0003700"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001660-9615","url":"https://omia.org/OMIA001660/9615/"},"species":"NCBITaxon:9615","summary":"Centronuclear myopathy 2, BIN1-related. Expected gene BIN1 (ENSCAFG00845023270), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"American Staffordshire Terrier","disease_group_id":"VHCASEGROUP:omia-1674","evaluation":{"discovery_mask_disease_ids":["OMIA:001674-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6f3019e6fbb59acbba037f3635d130206721bca637c1b2e5bea4926ad9b4f6ab","OMIA:001674-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001610","id":"case-omia-001674-pde6b","label":"Retinal atrophy - Cone-rod dystrophy 1","phenotypes":{"excluded":[],"present":["HP:0000548","HP:0001105","HP:0030637"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001674-9615","url":"https://omia.org/OMIA001674/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Cone-rod dystrophy 1. Expected gene PDE6B (ENSCAFG00845001610), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"American Pit Bull Terrier","disease_group_id":"VHCASEGROUP:omia-1675","evaluation":{"discovery_mask_disease_ids":["OMIA:001675-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2a8d58f0b7ab94a6431e61f6ff6e731590f316b98034d3f8bcaf4a5b1eb27290","OMIA:001675-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021876","id":"case-omia-001675-iqcb1","label":"Retinal atrophy - Cone-rod dystrophy 2","phenotypes":{"excluded":[],"present":["HP:0000546","HP:0000548","HP:0000572","HP:0001105","HP:0030637"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001675-9615","url":"https://omia.org/OMIA001675/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy - Cone-rod dystrophy 2. Expected gene IQCB1 (ENSCAFG00845021876), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Australian Cattle Dog X, German Pointer","disease_group_id":"VHCASEGROUP:omia-1677","evaluation":{"discovery_mask_disease_ids":["OMIA:001677-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ff9ae3e781dcbbd3ef5df177deeb8806bd5ee8e499c4efba75bddc1fbfbc3748","OMIA:001677-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845013821","id":"case-omia-001677-lama3","label":"Epidermolysis bullosa, junctionalis, LAMA3-related","phenotypes":{"excluded":[],"present":["HP:0001030","HP:0002098","HP:0002781","HP:0004334","HP:0004396","HP:0006297","HP:0006536","HP:0008404"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:001677-9615","url":"https://omia.org/OMIA001677/9615/"},"species":"NCBITaxon:9615","summary":"Epidermolysis bullosa, junctionalis, LAMA3-related. Expected gene LAMA3 (ENSCAFG00845013821), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Finnish Hound","disease_group_id":"VHCASEGROUP:omia-1692","evaluation":{"discovery_mask_disease_ids":["OMIA:001692-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3316ad88bddbb39f26511ff31d02290e243e82d10aaf4a2a338de3343ea17966","OMIA:001692-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009244","id":"case-omia-001692-sel1l","label":"Ataxia, cerebellar, progressive early-onset, SEL1L-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001508","HP:0002073"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2012,"reference":{"label":"OMIA:001692-9615","url":"https://omia.org/OMIA001692/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, cerebellar, progressive early-onset, SEL1L-related. Expected gene SEL1L (ENSCAFG00845009244), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Beagle, Border Collie, Komondor","disease_group_id":"VHCASEGROUP:omia-1786","evaluation":{"discovery_mask_disease_ids":["OMIA:001786-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:4be73fe30ea126a4470f3580ba02bfd2d6046355621de7353346c93a67bce255","OMIA:001786-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845014048","id":"case-omia-001786-cubn","label":"Intestinal cobalamin (vitamin B12) malabsorption, CUBN-related","phenotypes":{"excluded":[],"present":["HP:0001508","HP:0001889","HP:0002024","HP:0003202","HP:0005237","HP:0005511","HP:0011947","HP:0012120","HP:0012595","HP:0032239","HP:0100502"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001786-9615","url":"https://omia.org/OMIA001786/9615/"},"species":"NCBITaxon:9615","summary":"Intestinal cobalamin (vitamin B12) malabsorption, CUBN-related. Expected gene CUBN (ENSCAFG00845014048), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Giant Schnauzer, Poodle, Standard","disease_group_id":"VHCASEGROUP:omia-1787","evaluation":{"discovery_mask_disease_ids":["OMIA:001787-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b0b15c354eba6c925f88a6ee2afcb8c92114c74802b2bf630bbef7ff748a750d","OMIA:001787-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845018506","id":"case-omia-001787-kitlg","label":"Squamous cell carcinoma of the digit","phenotypes":{"excluded":[],"present":["HP:0002860","HP:0002861","HP:0008070"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001787-9615","url":"https://omia.org/OMIA001787/9615/"},"species":"NCBITaxon:9615","summary":"Squamous cell carcinoma of the digit. Expected gene KITLG (ENSCAFG00845018506), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Great Dane, Leonberger, Rottweiler","disease_group_id":"VHCASEGROUP:omia-1788","evaluation":{"discovery_mask_disease_ids":["OMIA:001788-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:0d0a4340a39b50e0ed4fb60d7bc34967beccfa1ae3126f36d0dae9e904d7ca27","OMIA:001788-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845019563","id":"case-omia-001788-napepld","label":"Leukoencephalomyelopathy, NAPEPLD-related","phenotypes":{"excluded":[],"present":["HP:0001285","HP:0001288","HP:0002073"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2018,"reference":{"label":"OMIA:001788-9615","url":"https://omia.org/OMIA001788/9615/"},"species":"NCBITaxon:9615","summary":"Leukoencephalomyelopathy, NAPEPLD-related. Expected gene NAPEPLD (ENSCAFG00845019563), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Cavalier King Charles Spaniel, Dachshund, English Cocker Spaniel","disease_group_id":"VHCASEGROUP:omia-1819","evaluation":{"discovery_mask_disease_ids":["OMIA:001819-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7532cba1e3ecbecbee40027fdad91212c453a232a2cc1f502093d688a517426d","OMIA:001819-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845004591","id":"case-omia-001819-mocos","label":"Xanthinuria, type II","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000796","HP:0000804","HP:0003774"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:001819-9615","url":"https://omia.org/OMIA001819/9615/"},"species":"NCBITaxon:9615","summary":"Xanthinuria, type II. Expected gene MOCOS (ENSCAFG00845004591), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Jack Russell Terrier, Parson Russell Terrier","disease_group_id":"VHCASEGROUP:omia-1820","evaluation":{"discovery_mask_disease_ids":["OMIA:001820-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2fd45ad527e0108d5ae19290272423ebdcf6704e4e12b07b18d134c9f5886bf1","OMIA:001820-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025353","id":"case-omia-001820-capn1","label":"Ataxia, spinocerebellar, CAPN1-related","phenotypes":{"excluded":[],"present":["HP:0001258","HP:0001288","HP:0002078","HP:0002098","HP:0002197","HP:0002311"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001820-9615","url":"https://omia.org/OMIA001820/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, spinocerebellar, CAPN1-related. Expected gene CAPN1 (ENSCAFG00845025353), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Chesapeake Bay Retriever, Golden Retriever","disease_group_id":"VHCASEGROUP:omia-1864","evaluation":{"discovery_mask_disease_ids":["OMIA:001864-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:24ea5962eb7e9ccc9cccf8635f6715c41c848e4aa3c8be8281adcb977a8f8e60","OMIA:001864-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845018597","id":"case-omia-001864-pkp1","label":"Ectodermal dysplasia/skin fragility syndrome, PKP1-related","phenotypes":{"excluded":[],"present":["HP:0000968","HP:0001030","HP:0001596","HP:0032156"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2012,"reference":{"label":"OMIA:001864-9615","url":"https://omia.org/OMIA001864/9615/"},"species":"NCBITaxon:9615","summary":"Ectodermal dysplasia/skin fragility syndrome, PKP1-related. Expected gene PKP1 (ENSCAFG00845018597), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Beagle, Norwegian Elkhound","disease_group_id":"VHCASEGROUP:omia-1870","evaluation":{"discovery_mask_disease_ids":["OMIA:001870-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:33297c075da2553fb07eb3b5e7108c917bb31b7f5878541a7fa07a86df16f024","OMIA:001870-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845006935","id":"case-omia-001870-adamts10","label":"Glaucoma, primary open angle, ADAMTS10-related","phenotypes":{"excluded":[],"present":["HP:0000572","HP:0000667","HP:0001083","HP:0001138","HP:0007906","HP:0008007","HP:0012108"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:001870-9615","url":"https://omia.org/OMIA001870/9615/"},"species":"NCBITaxon:9615","summary":"Glaucoma, primary open angle, ADAMTS10-related. Expected gene ADAMTS10 (ENSCAFG00845006935), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Basenji","disease_group_id":"VHCASEGROUP:omia-1876","evaluation":{"discovery_mask_disease_ids":["OMIA:001876-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d6d5e1eea7df855924061e36c2e03f884bdc34ef87b2810c3e23ca7822ee2a9b","OMIA:001876-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021999","id":"case-omia-001876-sag","label":"Retinal atrophy, progressive, SAG-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0001105","HP:0030329"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2013,"reference":{"label":"OMIA:001876-9615","url":"https://omia.org/OMIA001876/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, SAG-related. Expected gene SAG (ENSCAFG00845021999), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Norwich Terrier","disease_group_id":"VHCASEGROUP:omia-1893","evaluation":{"discovery_mask_disease_ids":["OMIA:001893-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:80e8220f08f82e7f6b6aaf4be7267ac39c5c9f464cf5715a5870e4e8f96db9b8","OMIA:001893-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845012236","id":"case-omia-001893-adamts3","label":"Upper airway syndrome","phenotypes":{"excluded":[],"present":["HP:0001600","HP:0002098","HP:0002781","HP:0006536"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:001893-9615","url":"https://omia.org/OMIA001893/9615/"},"species":"NCBITaxon:9615","summary":"Upper airway syndrome. Expected gene ADAMTS3 (ENSCAFG00845012236), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Gordon Setter, Mixed Breed, Old English Sheepdog","disease_group_id":"VHCASEGROUP:omia-1913","evaluation":{"discovery_mask_disease_ids":["OMIA:001913-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:697eedc83451500adf863b10940ac7499cd9cc1b803899ee4bd2123d3308da06","OMIA:001913-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010718","id":"case-omia-001913-rab24","label":"Ataxia, cerebellar, juvenile to adolescent, RAB24-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001272","HP:0001288","HP:0002073","HP:0002078","HP:0002079","HP:0002080","HP:0002283","HP:0002529","HP:0012444","HP:0040078","HP:6000717"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2014,"reference":{"label":"OMIA:001913-9615","url":"https://omia.org/OMIA001913/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, cerebellar, juvenile to adolescent, RAB24-related. Expected gene RAB24 (ENSCAFG00845010718), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Leonberger, Saint Bernard","disease_group_id":"VHCASEGROUP:omia-1917","evaluation":{"discovery_mask_disease_ids":["OMIA:001917-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:84e20d173b85ee33020b3524e5829aa50bf7780eedf1ad84aacc5951994e7398","OMIA:001917-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025529","id":"case-omia-001917-arhgef10","label":"Polyneuropathy, ARHGEF10-related","phenotypes":{"excluded":[],"present":["HP:0001284","HP:0001288","HP:0001605","HP:0003202","HP:0003324","HP:0003376","HP:0003477","HP:0003546","HP:0005348","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2014,"reference":{"label":"OMIA:001917-9615","url":"https://omia.org/OMIA001917/9615/"},"species":"NCBITaxon:9615","summary":"Polyneuropathy, ARHGEF10-related. Expected gene ARHGEF10 (ENSCAFG00845025529), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Swedish Vallhund","disease_group_id":"VHCASEGROUP:omia-1932","evaluation":{"discovery_mask_disease_ids":["OMIA:001932-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b0d378d60404b78f4a4e0a380f2769baa752187405db70ff2eee66edfd88fa6c","OMIA:001932-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010081","id":"case-omia-001932-mertk","label":"Retinal atrophy, progressive, MERTK-related","phenotypes":{"excluded":[],"present":["HP:0000529","HP:0000572","HP:0000662","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:001932-9615","url":"https://omia.org/OMIA001932/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, MERTK-related. Expected gene MERTK (ENSCAFG00845010081), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Miniature Schnauzer","disease_group_id":"VHCASEGROUP:omia-1944","evaluation":{"discovery_mask_disease_ids":["OMIA:001944-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:41a14c62552d6cc07cbee5e33f1af52866b3972ab7fbc19570545a52d4436901","OMIA:001944-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845027731","id":"case-omia-001944-hes7","label":"Spondylocostal dysostosis, autosomal recessive","phenotypes":{"excluded":[],"present":["HP:0000772","HP:0001537","HP:0410005"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001944-9615","url":"https://omia.org/OMIA001944/9615/"},"species":"NCBITaxon:9615","summary":"Spondylocostal dysostosis, autosomal recessive. Expected gene HES7 (ENSCAFG00845027731), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Eurasier","disease_group_id":"VHCASEGROUP:omia-1947","evaluation":{"discovery_mask_disease_ids":["OMIA:001947-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7db2d936bed2918ad4d1659541951a327a5438d5239d82d681dd2b93f73d13a2","OMIA:001947-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002345","id":"case-omia-001947-vldlr","label":"Cerebellar hypoplasia, VLDLR-associated","phenotypes":{"excluded":[],"present":["HP:0000238","HP:0000639","HP:0002438","HP:0002527"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2015,"reference":{"label":"OMIA:001947-9615","url":"https://omia.org/OMIA001947/9615/"},"species":"NCBITaxon:9615","summary":"Cerebellar hypoplasia, VLDLR-associated. Expected gene VLDLR (ENSCAFG00845002345), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} | |
| {"breed":"Lagotto Romagnolo","disease_group_id":"VHCASEGROUP:omia-1954","evaluation":{"discovery_mask_disease_ids":["OMIA:001954-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:678f870e36428b4060b0d68544b4143db00cb52965a8637b19b71f00e67f65b0","OMIA:001954-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845026379","id":"case-omia-001954-atg4d","label":"Neurodegenerative vacuolar storage disease","phenotypes":{"excluded":[],"present":["HP:0000708","HP:0001251","HP:0002073","HP:0006844","HP:0033725"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001954-9615","url":"https://omia.org/OMIA001954/9615/"},"species":"NCBITaxon:9615","summary":"Neurodegenerative vacuolar storage disease. Expected gene ATG4D (ENSCAFG00845026379), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Basset Bleu de Gascogne, Chihuahua, Chinese Crested","disease_group_id":"VHCASEGROUP:omia-1962","evaluation":{"discovery_mask_disease_ids":["OMIA:001962-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e3524a568a9006c3c523a3bf03763871cbc8c9c79c0393cafbd8c4affd4d3560","OMIA:001962-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845026578","id":"case-omia-001962-mfsd8","label":"Neuronal ceroid lipofuscinosis, 7","phenotypes":{"excluded":[],"present":["HP:0000546","HP:0001272","HP:0002073","HP:0002344","HP:0012444","HP:0100543"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001962-9615","url":"https://omia.org/OMIA001962/9615/"},"species":"NCBITaxon:9615","summary":"Neuronal ceroid lipofuscinosis, 7. Expected gene MFSD8 (ENSCAFG00845026578), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Landseer","disease_group_id":"VHCASEGROUP:omia-1967","evaluation":{"discovery_mask_disease_ids":["OMIA:001967-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:8fdba58899a9f94cb476f2e9e855e5085fd5f20c69408785a820cc1b171577cb","OMIA:001967-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024031","id":"case-omia-001967-col6a1","label":"Muscular dystrophy, Ullrich type, COL6A1-related","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0003323","HP:0003560"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001967-9615","url":"https://omia.org/OMIA001967/9615/"},"species":"NCBITaxon:9615","summary":"Muscular dystrophy, Ullrich type, COL6A1-related. Expected gene COL6A1 (ENSCAFG00845024031), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Alaskan Husky, Black Russian Terrier, Rottweiler","disease_group_id":"VHCASEGROUP:omia-1970","evaluation":{"discovery_mask_disease_ids":["OMIA:001970-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e49a08cc91a6d46ab8f619a7689f3c9a6f3dea20af86c6d1cde000c58edc3194","OMIA:001970-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008763","id":"case-omia-001970-rab3gap1","label":"Polyneuropathy, RAB3GAP1-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001288","HP:0001605","HP:0002080","HP:0002098","HP:0002344","HP:0002503","HP:0003324","HP:0003477","HP:0003690","HP:0005348","HP:0009830","HP:0010871","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001970-9615","url":"https://omia.org/OMIA001970/9615/"},"species":"NCBITaxon:9615","summary":"Polyneuropathy, RAB3GAP1-related. Expected gene RAB3GAP1 (ENSCAFG00845008763), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Great Dane","disease_group_id":"VHCASEGROUP:omia-1973","evaluation":{"discovery_mask_disease_ids":["OMIA:001973-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9479ade45d582be5f638ed8b97c21eabeb2d91ec96883e8b71a21e1cce789402","OMIA:001973-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029005","id":"case-omia-001973-slc27a4","label":"Ichthyosis, SLC27A4-related","phenotypes":{"excluded":[],"present":["HP:0007431","HP:0025080","HP:0034703","HP:0040189"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001973-9615","url":"https://omia.org/OMIA001973/9615/"},"species":"NCBITaxon:9615","summary":"Ichthyosis, SLC27A4-related. Expected gene SLC27A4 (ENSCAFG00845029005), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Basset Fauve de Bretagne, Basset Hound, Chinese Shar-Pei","disease_group_id":"VHCASEGROUP:omia-1976","evaluation":{"discovery_mask_disease_ids":["OMIA:001976-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:99ac749c14a8b969207a8b7f4ee4271340879850ba5166dc60cc28cbfb3904f2","OMIA:001976-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001303","id":"case-omia-001976-adamts17","label":"Glaucoma, primary open angle, ADAMTS17-related","phenotypes":{"excluded":[],"present":["HP:0001132","HP:0004322","HP:0007906","HP:0012019","HP:0012108"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001976-9615","url":"https://omia.org/OMIA001976/9615/"},"species":"NCBITaxon:9615","summary":"Glaucoma, primary open angle, ADAMTS17-related. Expected gene ADAMTS17 (ENSCAFG00845001303), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Shetland Sheepdog","disease_group_id":"VHCASEGROUP:omia-1977","evaluation":{"discovery_mask_disease_ids":["OMIA:001977-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:326aca4fb6706892adba62c176c01183ff7d82a7d7998af829bff3fbc8493b9b","OMIA:001977-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009629","id":"case-omia-001977-cnga1","label":"Retinal atrophy, progressive, CNGA1-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000510","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:001977-9615","url":"https://omia.org/OMIA001977/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, CNGA1-related. Expected gene CNGA1 (ENSCAFG00845009629), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"American Bulldog, American Bully","disease_group_id":"VHCASEGROUP:omia-1980","evaluation":{"discovery_mask_disease_ids":["OMIA:001980-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:bae94f023a91e1e19f08b922138ede2f74c3078bd463780d36fbccf1006c7425","OMIA:001980-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002106","id":"case-omia-001980-nipal4","label":"Ichthyosis, NIPAL4-related","phenotypes":{"excluded":[],"present":["HP:0007431","HP:0025080","HP:0025809"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:001980-9615","url":"https://omia.org/OMIA001980/9615/"},"species":"NCBITaxon:9615","summary":"Ichthyosis, NIPAL4-related. Expected gene NIPAL4 (ENSCAFG00845002106), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Golden Retriever","disease_group_id":"VHCASEGROUP:omia-1984","evaluation":{"discovery_mask_disease_ids":["OMIA:001984-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:38d063720eef7de12a015419e5991b1df11f61bc6a74dac2fc4d6995dee1db1d","OMIA:001984-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845012241","id":"case-omia-001984-ttc8","label":"Retinal atrophy, progressive, TTC8-related","phenotypes":{"excluded":[],"present":["HP:0000077","HP:0000529","HP:0000546","HP:0000572","HP:0000648","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2014,"reference":{"label":"OMIA:001984-9615","url":"https://omia.org/OMIA001984/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, TTC8-related. Expected gene TTC8 (ENSCAFG00845012241), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Bedlington Terrier","disease_group_id":"VHCASEGROUP:omia-1988","evaluation":{"discovery_mask_disease_ids":["OMIA:001988-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:43473be5f4ef7471908cbf45e62a6fdf676cbe73c9b7e534995cc089b08b52cc","OMIA:001988-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845016604","id":"case-omia-001988-commd1","label":"Copper toxicosis, COMMD1-related","phenotypes":{"excluded":[],"present":["HP:0000708","HP:0000751","HP:0001409","HP:0001410","HP:0001824","HP:0001931","HP:0002480","HP:0011967","HP:0200123"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2005,"reference":{"label":"OMIA:001988-9615","url":"https://omia.org/OMIA001988/9615/"},"species":"NCBITaxon:9615","summary":"Copper toxicosis, COMMD1-related. Expected gene COMMD1 (ENSCAFG00845016604), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Doberman Pinscher, Golden Retriever, Maltese","disease_group_id":"VHCASEGROUP:omia-2020","evaluation":{"discovery_mask_disease_ids":["OMIA:002020-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b6a96f63f3c1817f3764cd12d94e663152d984ed75ea8258467f5f880119d9dc","OMIA:002020-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002222","id":"case-omia-002020-plg","label":"Ligneous membranitis","phenotypes":{"excluded":[],"present":["HP:0001482","HP:0001824","HP:0031417","HP:5210259","HP:5210260"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:002020-9615","url":"https://omia.org/OMIA002020/9615/"},"species":"NCBITaxon:9615","summary":"Ligneous membranitis. Expected gene PLG (ENSCAFG00845002222), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Lundehund, New Zealand Heading Dog","disease_group_id":"VHCASEGROUP:omia-2031","evaluation":{"discovery_mask_disease_ids":["OMIA:002031-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a2f0e2e15891753303e03988d6676c4be26c6863262027a06e5e52abbb7ff665","OMIA:002031-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023995","id":"case-omia-002031-p3h2","label":"Lundehund syndrome","phenotypes":{"excluded":[],"present":["HP:0001824","HP:0002243","HP:0002582","HP:0002593"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:002031-9615","url":"https://omia.org/OMIA002031/9615/"},"species":"NCBITaxon:9615","summary":"Lundehund syndrome. Expected gene P3H2 (ENSCAFG00845023995), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Puli","disease_group_id":"VHCASEGROUP:omia-2045","evaluation":{"discovery_mask_disease_ids":["OMIA:002045-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:482f63dc5628b8efa00c84ac53ec7bf6be66adc12050986bc4ada596e8e42582","OMIA:002045-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025503","id":"case-omia-002045-bbs4","label":"Bardet-Biedl syndrome 4","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000572","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:002045-9615","url":"https://omia.org/OMIA002045/9615/"},"species":"NCBITaxon:9615","summary":"Bardet-Biedl syndrome 4. Expected gene BBS4 (ENSCAFG00845025503), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Nova Scotia Duck Tolling Retriever","disease_group_id":"VHCASEGROUP:omia-2055","evaluation":{"discovery_mask_disease_ids":["OMIA:002055-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e13637fe1faac591d9a8b80d37f23c86d6b9e6c96f36bcc71e324cc63f5a034f","OMIA:002055-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024092","id":"case-omia-002055-rb1cc1","label":"Degenerative encephalopathy, RB1CC1-related","phenotypes":{"excluded":[],"present":["HP:0000722","HP:0001288","HP:0004305","HP:0100543","HP:5200291"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2025,"reference":{"label":"OMIA:002055-9615","url":"https://omia.org/OMIA002055/9615/"},"species":"NCBITaxon:9615","summary":"Degenerative encephalopathy, RB1CC1-related. Expected gene RB1CC1 (ENSCAFG00845024092), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-2071","evaluation":{"discovery_mask_disease_ids":["OMIA:002071-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3c3f1c53a61251f9d31c2a50461e79b70eb80e8c70efb84cb3a01468ae7bd213","OMIA:002071-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023942","id":"case-omia-002071-loc489707","label":"Macular corneal dystrophy","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0001131","HP:0007856","HP:0007957","HP:0011496"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:002071-9615","url":"https://omia.org/OMIA002071/9615/"},"species":"NCBITaxon:9615","summary":"Macular corneal dystrophy. Expected gene LOC489707 (ENSCAFG00845023942), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Belgian Shepherd Dog, Belgian Shepherd Dog, Malinois, Bouvier des Ardennes","disease_group_id":"VHCASEGROUP:omia-2089","evaluation":{"discovery_mask_disease_ids":["OMIA:002089-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:1fcedd3a3fed6562522cd6929d06d0580b007530ed73911a6bb3a8c09778e9b4","OMIA:002089-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845030876","id":"case-omia-002089-kcnj10","label":"Ataxia, cerebellar, KCNJ10-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001288","HP:0002098","HP:0002197","HP:0002503","HP:0002540"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2014,"reference":{"label":"OMIA:002089-9615","url":"https://omia.org/OMIA002089/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, cerebellar, KCNJ10-related. Expected gene KCNJ10 (ENSCAFG00845030876), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Beagle","disease_group_id":"VHCASEGROUP:omia-2092","evaluation":{"discovery_mask_disease_ids":["OMIA:002092-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:ba38db05496ba05c9ba0489aa15b0bc4cb1426a50c834eb6e6b3828bc7bd501d","OMIA:002092-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845012050","id":"case-omia-002092-sptbn2","label":"Ataxia, spinocerebellar, SPTBN2-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001583","HP:0002540"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2012,"reference":{"label":"OMIA:002092-9615","url":"https://omia.org/OMIA002092/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, spinocerebellar, SPTBN2-related. Expected gene SPTBN2 (ENSCAFG00845012050), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Italian Spinone","disease_group_id":"VHCASEGROUP:omia-2097","evaluation":{"discovery_mask_disease_ids":["OMIA:002097-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:8020920cb278b746471746bda11d6b35ff9271658bfc962fe08067bb4ee86c3c","OMIA:002097-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845011583","id":"case-omia-002097-itpr1","label":"Ataxia, spinocerebellar, ITPR1-related","phenotypes":{"excluded":[],"present":["HP:0002172","HP:0002346","HP:0012043"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:002097-9615","url":"https://omia.org/OMIA002097/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, spinocerebellar, ITPR1-related. Expected gene ITPR1 (ENSCAFG00845011583), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Papillon","disease_group_id":"VHCASEGROUP:omia-2105","evaluation":{"discovery_mask_disease_ids":["OMIA:002105-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:273901eb1f7b9f89c6fb45a6467a1af13389f5d000a0d4f99b593e2a68f5c173","OMIA:002105-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024672","id":"case-omia-002105-pla2g6","label":"Neuroaxonal dystrophy, PLA2G6-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001272","HP:0002070","HP:0002080","HP:0002346","HP:0011951","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:002105-9615","url":"https://omia.org/OMIA002105/9615/"},"species":"NCBITaxon:9615","summary":"Neuroaxonal dystrophy, PLA2G6-related. Expected gene PLA2G6 (ENSCAFG00845024672), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Beagle, Chow Chow, Lagotto Romagnolo","disease_group_id":"VHCASEGROUP:omia-2112","evaluation":{"discovery_mask_disease_ids":["OMIA:002112-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:3e115a2b5b379cbd251d83bb3e7a039275961ac238d97402c1c9ff0d9ec4da25","OMIA:002112-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017038","id":"case-omia-002112-col1a2","label":"Osteogenesis imperfecta, COL1A2-related","phenotypes":{"excluded":[],"present":["HP:0000938","HP:0002659","HP:0002757"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2001,"reference":{"label":"OMIA:002112-9615","url":"https://omia.org/OMIA002112/9615/"},"species":"NCBITaxon:9615","summary":"Osteogenesis imperfecta, COL1A2-related. Expected gene COL1A2 (ENSCAFG00845017038), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Alaskan Malamute, Greyhound","disease_group_id":"VHCASEGROUP:omia-2120","evaluation":{"discovery_mask_disease_ids":["OMIA:002120-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:8a49e506ee63574cbefd5032e382f5d31f0edec27b1f6daaa9b5b4787aa49d51","OMIA:002120-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009769","id":"case-omia-002120-ndrg1","label":"Polyneuropathy, NDRG1-related","phenotypes":{"excluded":[],"present":["HP:0001288","HP:0002073","HP:0002167","HP:0002366","HP:0002540","HP:0003202","HP:0003376","HP:0003387","HP:0003546","HP:0003693","HP:0005348","HP:0007133","HP:0007141","HP:0012473","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2010,"reference":{"label":"OMIA:002120-9615","url":"https://omia.org/OMIA002120/9615/"},"species":"NCBITaxon:9615","summary":"Polyneuropathy, NDRG1-related. Expected gene NDRG1 (ENSCAFG00845009769), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Boston Terrier, Lagotto Romagnolo","disease_group_id":"VHCASEGROUP:omia-2122","evaluation":{"discovery_mask_disease_ids":["OMIA:002122-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:30fa613188b5314a828780044f719a864b180403241ef7803780767761293100","OMIA:002122-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845002587","id":"case-omia-002122-sgcd","label":"Muscular dystrophy, limb-girdle, type R6 (LGMDR6)","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0002540","HP:0003323","HP:0003560","HP:0006785"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:002122-9615","url":"https://omia.org/OMIA002122/9615/"},"species":"NCBITaxon:9615","summary":"Muscular dystrophy, limb-girdle, type R6 (LGMDR6). Expected gene SGCD (ENSCAFG00845002587), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Golden Retriever","disease_group_id":"VHCASEGROUP:omia-2126","evaluation":{"discovery_mask_disease_ids":["OMIA:002126-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:005b6c1d0f52e8f959a20c1f8a771f64bc9c9b61392762d19b929d9907c8c994","OMIA:002126-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845012504","id":"case-omia-002126-col1a1","label":"Osteogenesis imperfecta, type III, COL1A1-related","phenotypes":{"excluded":[],"present":["HP:0000703","HP:0000938","HP:0002757","HP:0004322"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2000,"reference":{"label":"OMIA:002126-9615","url":"https://omia.org/OMIA002126/9615/"},"species":"NCBITaxon:9615","summary":"Osteogenesis imperfecta, type III, COL1A1-related. Expected gene COL1A1 (ENSCAFG00845012504), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Bull Terrier, Miniature Bull Terrier","disease_group_id":"VHCASEGROUP:omia-2146","evaluation":{"discovery_mask_disease_ids":["OMIA:002146-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:67607cf1201becaaead2e053b27b8b65b9f725ffa3be078b8192aae05028ddf0","OMIA:002146-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015885","id":"case-omia-002146-mkln1","label":"Acrodermatitis, lethal, MKLN1-related","phenotypes":{"excluded":[],"present":["HP:0001047","HP:0001508","HP:0001510","HP:0002721","HP:0011967","HP:0040009"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2018,"reference":{"label":"OMIA:002146-9615","url":"https://omia.org/OMIA002146/9615/"},"species":"NCBITaxon:9615","summary":"Acrodermatitis, lethal, MKLN1-related. Expected gene MKLN1 (ENSCAFG00845015885), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Rottweiler","disease_group_id":"VHCASEGROUP:omia-2152","evaluation":{"discovery_mask_disease_ids":["OMIA:002152-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:dc3254a9775b9b0b33c7f352450fa7ce5f8bc91b5cdd34f2277fb683b018d45b","OMIA:002152-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845000686","id":"case-omia-002152-vps11","label":"Neuroaxonal dystrophy, VPS11-related","phenotypes":{"excluded":[],"present":["HP:0002073","HP:0002080","HP:0002346","HP:0010871","HP:6000717"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2018,"reference":{"label":"OMIA:002152-9615","url":"https://omia.org/OMIA002152/9615/"},"species":"NCBITaxon:9615","summary":"Neuroaxonal dystrophy, VPS11-related. Expected gene VPS11 (ENSCAFG00845000686), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Schnauzer-Beagle Cross","disease_group_id":"VHCASEGROUP:omia-2153","evaluation":{"discovery_mask_disease_ids":["OMIA:002153-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:71ee3dfc78a52c525e0b16004552965f3701ec6ec03f447d1dc02aebe53196d8","OMIA:002153-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001739","id":"case-omia-002153-mfn2","label":"Neuroaxonal dystrophy, MFN2-related","phenotypes":{"excluded":[],"present":["HP:0001321","HP:0002089","HP:0002878","HP:0007373","HP:0034392"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:002153-9615","url":"https://omia.org/OMIA002153/9615/"},"species":"NCBITaxon:9615","summary":"Neuroaxonal dystrophy, MFN2-related. Expected gene MFN2 (ENSCAFG00845001739), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Beagle, Dachshund, Miniature, German Shepherd Dog","disease_group_id":"VHCASEGROUP:omia-2165","evaluation":{"discovery_mask_disease_ids":["OMIA:002165-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:992f9a0f1c73bee4aaeca430ff7eddfb56ee6f8edd61e25c667b440cf8285ddf","OMIA:002165-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845012744","id":"case-omia-002165-col5a1","label":"classical Ehlers-Danlos syndrome (cEDS), COL5A1-related","phenotypes":{"excluded":[],"present":["HP:0000974","HP:0001030","HP:0001075","HP:0001382"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2019,"reference":{"label":"OMIA:002165-9615","url":"https://omia.org/OMIA002165/9615/"},"species":"NCBITaxon:9615","summary":"classical Ehlers-Danlos syndrome (cEDS), COL5A1-related. Expected gene COL5A1 (ENSCAFG00845012744), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} | |
| {"breed":"Norwich Terrier","disease_group_id":"VHCASEGROUP:omia-2173","evaluation":{"discovery_mask_disease_ids":["OMIA:002173-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:80b917ebd9c70ee415cfd279647136348e631b74597e5e7810be1a80432ead13","OMIA:002173-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845005885","id":"case-omia-002173-inpp5e","label":"Diffuse cystic renal dysplasia and hepatic fibrosis","phenotypes":{"excluded":[],"present":["HP:0000110","HP:0000800","HP:0001395"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2018,"reference":{"label":"OMIA:002173-9615","url":"https://omia.org/OMIA002173/9615/"},"species":"NCBITaxon:9615","summary":"Diffuse cystic renal dysplasia and hepatic fibrosis. Expected gene INPP5E (ENSCAFG00845005885), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Pekingese, Shih Tzu","disease_group_id":"VHCASEGROUP:omia-2174","evaluation":{"discovery_mask_disease_ids":["OMIA:002174-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2977636bc34d73fe431b3e4456d73458798a18f6b0a1ff033f6eb69ae4209c85","OMIA:002174-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845024501","id":"case-omia-002174-slc5a5","label":"Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related","phenotypes":{"excluded":[],"present":["HP:0000851","HP:0001510","HP:0001644","HP:0002890","HP:0006731","HP:0100028"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2018,"reference":{"label":"OMIA:002174-9615","url":"https://omia.org/OMIA002174/9615/"},"species":"NCBITaxon:9615","summary":"Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related. Expected gene SLC5A5 (ENSCAFG00845024501), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-2179","evaluation":{"discovery_mask_disease_ids":["OMIA:002179-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c04f05dd173fa7ac1005539be26b3ee46d6ecfd81e8019f194869c88a59a2a52","OMIA:002179-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015579","id":"case-omia-002179-abca4","label":"Stargardt disease 1","phenotypes":{"excluded":[],"present":["HP:0000546","HP:0001105","HP:0030637"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:002179-9615","url":"https://omia.org/OMIA002179/9615/"},"species":"NCBITaxon:9615","summary":"Stargardt disease 1. Expected gene ABCA4 (ENSCAFG00845015579), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"American Bulldog, American Pit Bull Terrier, American Staffordshire Terrier","disease_group_id":"VHCASEGROUP:omia-2186","evaluation":{"discovery_mask_disease_ids":["OMIA:002186-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2f083924460eab83e9785e7d8349640e6b6545f7cb927a3ddf4a16cb262b8609","OMIA:002186-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020074","id":"case-omia-002186-dvl2","label":"Screw tail","phenotypes":{"excluded":[],"present":["HP:0000316","HP:0000457","HP:0001627","HP:0002046","HP:0002176","HP:0002414","HP:0003305","HP:0003316","HP:0003467","HP:0003468","HP:0004322","HP:0008422","HP:0008873","HP:0012368","HP:0410017"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2018,"reference":{"label":"OMIA:002186-9615","url":"https://omia.org/OMIA002186/9615/"},"species":"NCBITaxon:9615","summary":"Screw tail. Expected gene DVL2 (ENSCAFG00845020074), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Welsh Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-2195","evaluation":{"discovery_mask_disease_ids":["OMIA:002195-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:80f3895b753cdaf17f5bf2a3c823c930d8af07cbc19de2a01287bbb1413768b6","OMIA:002195-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007035","id":"case-omia-002195-pln","label":"Cardiomyopathy, dilated, PLN-related","phenotypes":{"excluded":[],"present":["HP:0001644","HP:0001699","HP:0004308","HP:0006673","HP:4000141"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:002195-9615","url":"https://omia.org/OMIA002195/9615/"},"species":"NCBITaxon:9615","summary":"Cardiomyopathy, dilated, PLN-related. Expected gene PLN (ENSCAFG00845007035), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Miniature Bull Terrier","disease_group_id":"VHCASEGROUP:omia-2222","evaluation":{"discovery_mask_disease_ids":["OMIA:002222-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d4e6c43524d1bccc0aa1b2724a2292be3fa9220fdf6395ec43fe6bc00dab25b9","OMIA:002222-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008207","id":"case-omia-002222-rapgef6","label":"Laryngeal paralysis, RAPGEF6-related","phenotypes":{"excluded":[],"present":["HP:0001605","HP:0002098","HP:0006536"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:002222-9615","url":"https://omia.org/OMIA002222/9615/"},"species":"NCBITaxon:9615","summary":"Laryngeal paralysis, RAPGEF6-related. Expected gene RAPGEF6 (ENSCAFG00845008207), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Norwegian Buhund","disease_group_id":"VHCASEGROUP:omia-2240","evaluation":{"discovery_mask_disease_ids":["OMIA:002240-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:32263bc35627dadf03f138f569ed2d7cb9d0cb3811ef6e79f26628f0e19d54db","OMIA:002240-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009227","id":"case-omia-002240-kcnip4","label":"Ataxia, cerebellar, KCNIP4-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0002073","HP:0002078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2020,"reference":{"label":"OMIA:002240-9615","url":"https://omia.org/OMIA002240/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, cerebellar, KCNIP4-related. Expected gene KCNIP4 (ENSCAFG00845009227), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Poodle, Miniature","disease_group_id":"VHCASEGROUP:omia-2243","evaluation":{"discovery_mask_disease_ids":["OMIA:002243-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:80339641c06108f15f225ff6a78aa4b92bddcd97398ff1dad5c44b35b0f5a2d9","OMIA:002243-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845017273","id":"case-omia-002243-dsp","label":"Ichthyosis, DSP-related","phenotypes":{"excluded":[],"present":["HP:0000668","HP:0000704","HP:0004528","HP:0025080","HP:0030804"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2024,"reference":{"label":"OMIA:002243-9615","url":"https://omia.org/OMIA002243/9615/"},"species":"NCBITaxon:9615","summary":"Ichthyosis, DSP-related. Expected gene DSP (ENSCAFG00845017273), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} | |
| {"breed":"Mixed Breed","disease_group_id":"VHCASEGROUP:omia-2254","evaluation":{"discovery_mask_disease_ids":["OMIA:002254-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d21d24898273db51ed5fd79ae170ed7af251d3c3aadb7765918c5a341c9b3928","OMIA:002254-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845019024","id":"case-omia-002254-nr3c1","label":"Glucocorticoid resistance","phenotypes":{"excluded":[],"present":["HP:0003118","HP:0003270","HP:0025520"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:002254-9615","url":"https://omia.org/OMIA002254/9615/"},"species":"NCBITaxon:9615","summary":"Glucocorticoid resistance. Expected gene NR3C1 (ENSCAFG00845019024), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"American Staffordshire Terrier, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-2274","evaluation":{"discovery_mask_disease_ids":["OMIA:002274-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b3f17c7980c6b737645b266c0c0a4dc1b5b393b74b1cd9417f1dbec15c1f9101","OMIA:002274-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028105","id":"case-omia-002274-col6a3","label":"Muscular dystrophy, Ullrich type, COL6A3-related","phenotypes":{"excluded":[],"present":["HP:0001324","HP:0001382","HP:0002878","HP:0003323","HP:0003560","HP:0034392"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2020,"reference":{"label":"OMIA:002274-9615","url":"https://omia.org/OMIA002274/9615/"},"species":"NCBITaxon:9615","summary":"Muscular dystrophy, Ullrich type, COL6A3-related. Expected gene COL6A3 (ENSCAFG00845028105), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Spanish Water Dog","disease_group_id":"VHCASEGROUP:omia-2282","evaluation":{"discovery_mask_disease_ids":["OMIA:002282-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c6d3f039db7d59a5eb0778d09edc704972ab605768ced930553fc9f37b315f5c","OMIA:002282-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001610","id":"case-omia-002282-pde6b","label":"Retinal atrophy, progressive, PDE6B-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000546","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2020,"reference":{"label":"OMIA:002282-9615","url":"https://omia.org/OMIA002282/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, PDE6B-related. Expected gene PDE6B (ENSCAFG00845001610), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Miniature Schnauzer","disease_group_id":"VHCASEGROUP:omia-2284","evaluation":{"discovery_mask_disease_ids":["OMIA:002284-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:bd9c1295883f887a3ea94067db26111698a1939988238bcac0d4aa7e796d26da","OMIA:002284-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845014152","id":"case-omia-002284-sbf2","label":"Polyneuropathy, SBF2-related","phenotypes":{"excluded":[],"present":["HP:0001605","HP:0003560","HP:0007108","HP:0009830","HP:0011951"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:002284-9615","url":"https://omia.org/OMIA002284/9615/"},"species":"NCBITaxon:9615","summary":"Polyneuropathy, SBF2-related. Expected gene SBF2 (ENSCAFG00845014152), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Lhasa Apso","disease_group_id":"VHCASEGROUP:omia-2289","evaluation":{"discovery_mask_disease_ids":["OMIA:002289-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:cce5b05d8d058604c82be0dab1472c4e217a589c53f58b7b20fffaf36894cb67","OMIA:002289-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845019782","id":"case-omia-002289-impg2","label":"Retinal atrophy, progressive, IMPG2-related","phenotypes":{"excluded":[],"present":["HP:0000662","HP:0001105","HP:0007843","HP:0030329"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2020,"reference":{"label":"OMIA:002289-9615","url":"https://omia.org/OMIA002289/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, IMPG2-related. Expected gene IMPG2 (ENSCAFG00845019782), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Dutch Shepherd, Nova Scotia Duck Tolling Retriever","disease_group_id":"VHCASEGROUP:omia-2294","evaluation":{"discovery_mask_disease_ids":["OMIA:002294-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:4400262e51591e976a24a8361eefd42f28e03bd2e59fa4cef74b19c5dc0c7978","OMIA:002294-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028165","id":"case-omia-002294-slc25a12","label":"Cerebellar degeneration-myositis complex, SLC25A12-related","phenotypes":{"excluded":[],"present":["HP:0001317","HP:0001324","HP:0002346","HP:0002540","HP:0003198","HP:0003202","HP:0003323","HP:0003546","HP:0003700","HP:0009071"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2019,"reference":{"label":"OMIA:002294-9615","url":"https://omia.org/OMIA002294/9615/"},"species":"NCBITaxon:9615","summary":"Cerebellar degeneration-myositis complex, SLC25A12-related. Expected gene SLC25A12 (ENSCAFG00845028165), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Chihuahua","disease_group_id":"VHCASEGROUP:omia-2295","evaluation":{"discovery_mask_disease_ids":["OMIA:002295-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:17be58180621c947b72fa83c5770a72a4949fea325fb708124495a8709de1099","OMIA:002295-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021162","id":"case-omia-002295-col5a2","label":"classical Ehlers-Danlos syndrome (cEDS), COL5A2-related","phenotypes":{"excluded":[],"present":["HP:0000974","HP:0001030","HP:0001382"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002295-9615","url":"https://omia.org/OMIA002295/9615/"},"species":"NCBITaxon:9615","summary":"classical Ehlers-Danlos syndrome (cEDS), COL5A2-related. Expected gene COL5A2 (ENSCAFG00845021162), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Great Dane, Labrador Retriever, Leonberger","disease_group_id":"VHCASEGROUP:omia-2301","evaluation":{"discovery_mask_disease_ids":["OMIA:002301-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2bca3e88a03914d9d4a8827932b5b4091b7b3723bc307d6787488698835d48b6","OMIA:002301-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008178","id":"case-omia-002301-cntnap1","label":"Laryngeal paralysis and polyneuropathy, CNTNAP1-related","phenotypes":{"excluded":[],"present":["HP:0001288","HP:0001605","HP:0002015","HP:0002094","HP:0002366","HP:0003202","HP:0003376","HP:0003546","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2020,"reference":{"label":"OMIA:002301-9615","url":"https://omia.org/OMIA002301/9615/"},"species":"NCBITaxon:9615","summary":"Laryngeal paralysis and polyneuropathy, CNTNAP1-related. Expected gene CNTNAP1 (ENSCAFG00845008178), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Dachshund, Miniature","disease_group_id":"VHCASEGROUP:omia-2305","evaluation":{"discovery_mask_disease_ids":["OMIA:002305-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c26a97d490bb818f63031bfd1e47bcfb1aae52857cd1e64486c9bc7f5c777a23","OMIA:002305-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845012386","id":"case-omia-002305-sgca","label":"Muscular dystrophy, limb-girdle, type R3 (LGMDR3)","phenotypes":{"excluded":[],"present":["HP:0002015","HP:0003546","HP:0003560","HP:0006785"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002305-9615","url":"https://omia.org/OMIA002305/9615/"},"species":"NCBITaxon:9615","summary":"Muscular dystrophy, limb-girdle, type R3 (LGMDR3). Expected gene SGCA (ENSCAFG00845012386), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Czechoslovakian Wolfdog, German Shepherd Dog, Saarloos Wolfhond","disease_group_id":"VHCASEGROUP:omia-2314","evaluation":{"discovery_mask_disease_ids":["OMIA:002314-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9a29fe7161b4aa1e6667df03998a382cafa710f684942b23a3bed1d95dd70848","OMIA:002314-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845007030","id":"case-omia-002314-lhx3","label":"Pituitary hormone deficiency, LHX3-related","phenotypes":{"excluded":[],"present":["HP:0000839","HP:0001510","HP:0001596","HP:0008245","HP:0008850","HP:0011748"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:002314-9615","url":"https://omia.org/OMIA002314/9615/"},"species":"NCBITaxon:9615","summary":"Pituitary hormone deficiency, LHX3-related. Expected gene LHX3 (ENSCAFG00845007030), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Finnish Lapphund, Lapponian Herder","disease_group_id":"VHCASEGROUP:omia-2320","evaluation":{"discovery_mask_disease_ids":["OMIA:002320-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:fa0ebd2577ae79f649fc262e64ad440c055265edfaebff78075fffa25416142c","OMIA:002320-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845027707","id":"case-omia-002320-ift122","label":"Retinal atrophy, progressive, IFT122-related","phenotypes":{"excluded":[],"present":["HP:0000510","HP:0000556","HP:0000662","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002320-9615","url":"https://omia.org/OMIA002320/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, IFT122-related. Expected gene IFT122 (ENSCAFG00845027707), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"English Springer Spaniel","disease_group_id":"VHCASEGROUP:omia-2332","evaluation":{"discovery_mask_disease_ids":["OMIA:002332-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:eb6f97e3b463cafbdf492ad40d00f5a3573cca4bbf4442d4456a18d944c7a6b6","OMIA:002332-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845011629","id":"case-omia-002332-kcnq1","label":"Long QT syndrome, KCNQ1-related","phenotypes":{"excluded":[],"present":["HP:0001657","HP:0001699","HP:0003115"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2015,"reference":{"label":"OMIA:002332-9615","url":"https://omia.org/OMIA002332/9615/"},"species":"NCBITaxon:9615","summary":"Long QT syndrome, KCNQ1-related. Expected gene KCNQ1 (ENSCAFG00845011629), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"English Cocker Spaniel","disease_group_id":"VHCASEGROUP:omia-2348","evaluation":{"discovery_mask_disease_ids":["OMIA:002348-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:72cdfd0b46109a01090c24f86dfc24e9177e175fbc4cd5cdf761bef19ddd2548","OMIA:002348-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845027745","id":"case-omia-002348-ndp","label":"Retinal dysplasia, NDP-related","phenotypes":{"excluded":[],"present":["HP:0000541","HP:0007705","HP:0007973","HP:0100018"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002348-9615","url":"https://omia.org/OMIA002348/9615/"},"species":"NCBITaxon:9615","summary":"Retinal dysplasia, NDP-related. Expected gene NDP (ENSCAFG00845027745), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Giant Schnauzer, Schnauzer, Standard","disease_group_id":"VHCASEGROUP:omia-2365","evaluation":{"discovery_mask_disease_ids":["OMIA:002365-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:af2af0f9f69ae4f891d15526d0555929df38d720489e9d6b077f29847c825f00","OMIA:002365-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028870","id":"case-omia-002365-rbm20","label":"Cardiomyopathy, dilated, RBM20-related","phenotypes":{"excluded":[],"present":["HP:0001635","HP:0001644","HP:0006673","HP:4000141"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2014,"reference":{"label":"OMIA:002365-9615","url":"https://omia.org/OMIA002365/9615/"},"species":"NCBITaxon:9615","summary":"Cardiomyopathy, dilated, RBM20-related. Expected gene RBM20 (ENSCAFG00845028870), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Italian Greyhound, Staffordshire Bull Terrier","disease_group_id":"VHCASEGROUP:omia-2459","evaluation":{"discovery_mask_disease_ids":["OMIA:002459-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a287a1280c787a2a31e9d03ff33b1022b258fe064a4758dc5ef44ba67e709c8d","OMIA:002459-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845001120","id":"case-omia-002459-lama2","label":"Congenital muscular dystrophy, LAMA2-related","phenotypes":{"excluded":[],"present":["HP:0001510","HP:0003202","HP:0003560","HP:0003700","HP:0100297"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002459-9615","url":"https://omia.org/OMIA002459/9615/"},"species":"NCBITaxon:9615","summary":"Congenital muscular dystrophy, LAMA2-related. Expected gene LAMA2 (ENSCAFG00845001120), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-2460","evaluation":{"discovery_mask_disease_ids":["OMIA:002460-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9cc303f60c8a60f0cffb2f73b6fa7ea86bacc929a3ec816ce5b9f43632164fac","OMIA:002460-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010461","id":"case-omia-002460-large","label":"Muscular dystrophy-dystroglycanopathy, LARGE1-related","phenotypes":{"excluded":[],"present":["HP:0003236","HP:0003560","HP:0004322","HP:0033454","HP:0100297"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002460-9615","url":"https://omia.org/OMIA002460/9615/"},"species":"NCBITaxon:9615","summary":"Muscular dystrophy-dystroglycanopathy, LARGE1-related. Expected gene LARGE (ENSCAFG00845010461), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Italian Cane Corso","disease_group_id":"VHCASEGROUP:omia-2465","evaluation":{"discovery_mask_disease_ids":["OMIA:002465-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6663674af39cbaf805b986dc4874aa7a7ce49cff1284006c85a5a9ea1cec0275","OMIA:002465-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845030361","id":"case-omia-002465-mia3","label":"Dental-skeletal-retinal anomaly, MIA3-related","phenotypes":{"excluded":[],"present":["HP:0000164","HP:0000546","HP:0000572","HP:0000703"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002465-9615","url":"https://omia.org/OMIA002465/9615/"},"species":"NCBITaxon:9615","summary":"Dental-skeletal-retinal anomaly, MIA3-related. Expected gene MIA3 (ENSCAFG00845030361), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Shetland Sheepdog","disease_group_id":"VHCASEGROUP:omia-2484","evaluation":{"discovery_mask_disease_ids":["OMIA:002484-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:c9730e66b1eaab1e8fb9294f065a10c4bb29b8347dca735566eb273468a8e11d","OMIA:002484-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845003891","id":"case-omia-002484-bbs2","label":"Bardet-Biedl syndrome 2","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0000546","HP:0001105"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2021,"reference":{"label":"OMIA:002484-9615","url":"https://omia.org/OMIA002484/9615/"},"species":"NCBITaxon:9615","summary":"Bardet-Biedl syndrome 2. Expected gene BBS2 (ENSCAFG00845003891), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Dalmatian","disease_group_id":"VHCASEGROUP:omia-2539","evaluation":{"discovery_mask_disease_ids":["OMIA:002539-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9c4fd7096546deed9325cb9afabec7db118d7261cb1921766d96b4ca05d808c5","OMIA:002539-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029225","id":"case-omia-002539-anln","label":"Respiratory distress syndrome, ANLN-related","phenotypes":{"excluded":[],"present":["HP:0002098","HP:0002206","HP:0002878","HP:0033363","HP:0033677"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2017,"reference":{"label":"OMIA:002539-9615","url":"https://omia.org/OMIA002539/9615/"},"species":"NCBITaxon:9615","summary":"Respiratory distress syndrome, ANLN-related. Expected gene ANLN (ENSCAFG00845029225), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Bull Mastiff","disease_group_id":"VHCASEGROUP:omia-2551","evaluation":{"discovery_mask_disease_ids":["OMIA:002551-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6418c05412e4f755f7b7c55993283cca577109f130e241da1366d068d0badb7e","OMIA:002551-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845015898","id":"case-omia-002551-mff","label":"Mitochondrial fission encephalopathy","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0001251","HP:0001334","HP:0003687","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002551-9615","url":"https://omia.org/OMIA002551/9615/"},"species":"NCBITaxon:9615","summary":"Mitochondrial fission encephalopathy. Expected gene MFF (ENSCAFG00845015898), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"English Springer Spaniel, Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-2564","evaluation":{"discovery_mask_disease_ids":["OMIA:002564-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:2201751beab597586f77b44563a4262c0968ebbf989bff53e5a6906801c95899","OMIA:002564-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020691","id":"case-omia-002564-ehbp1l1","label":"Dyserythropoietic anemia and myopathy syndrome","phenotypes":{"excluded":[],"present":["HP:0001508","HP:0001931","HP:0002028","HP:0003202","HP:0003546","HP:0003687","HP:0003690","HP:0003700","HP:0004810","HP:0010972","HP:0011951","HP:0012132","HP:0034280"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002564-9615","url":"https://omia.org/OMIA002564/9615/"},"species":"NCBITaxon:9615","summary":"Dyserythropoietic anemia and myopathy syndrome. Expected gene EHBP1L1 (ENSCAFG00845020691), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Cavalier King Charles Spaniel","disease_group_id":"VHCASEGROUP:omia-2585","evaluation":{"discovery_mask_disease_ids":["OMIA:002585-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:389b9015d23a4681769f9e1d61d8a96c7f4513206e3d6b62741d775b521554a5","OMIA:002585-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845004219","id":"case-omia-002585-acadm","label":"Acyl-CoA dehydrogenase, medium chain, deficiency of","phenotypes":{"excluded":[],"present":["HP:0001992","HP:0002384","HP:0007359"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002585-9615","url":"https://omia.org/OMIA002585/9615/"},"species":"NCBITaxon:9615","summary":"Acyl-CoA dehydrogenase, medium chain, deficiency of. Expected gene ACADM (ENSCAFG00845004219), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Dalmatian, Weimaraner","disease_group_id":"VHCASEGROUP:omia-2591","evaluation":{"discovery_mask_disease_ids":["OMIA:002591-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:1e63627bb969530d6f1d575f7abc4a699ff9325d85065b11861da40601dd60d6","OMIA:002591-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010898","id":"case-omia-002591-cnp","label":"Lysosomal storage disease, CNP-related","phenotypes":{"excluded":[],"present":["HP:0000505","HP:0001268","HP:0002070","HP:0002283","HP:0002360","HP:0002607","HP:0012444"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002591-9615","url":"https://omia.org/OMIA002591/9615/"},"species":"NCBITaxon:9615","summary":"Lysosomal storage disease, CNP-related. Expected gene CNP (ENSCAFG00845010898), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Working Kelpie","disease_group_id":"VHCASEGROUP:omia-2602","evaluation":{"discovery_mask_disease_ids":["OMIA:002602-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:41025e3499f2d3d286e2315ff94bf659fa09cbbb094b767427ca258fdc17c6ee","OMIA:002602-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845025852","id":"case-omia-002602-vmp1","label":"Cerebellar abiotrophy, VMP1-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0002069","HP:0002080","HP:0002346","HP:0003376"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002602-9615","url":"https://omia.org/OMIA002602/9615/"},"species":"NCBITaxon:9615","summary":"Cerebellar abiotrophy, VMP1-related. Expected gene VMP1 (ENSCAFG00845025852), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Vizsla","disease_group_id":"VHCASEGROUP:omia-2606","evaluation":{"discovery_mask_disease_ids":["OMIA:002606-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:84aa06faae7c87d05c120ca52d22050ecaabb98f8d889dd96c3f0af017a0cc5a","OMIA:002606-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845029954","id":"case-omia-002606-pcyt1a","label":"Skeletal dysplasia 3, PCYT1A-related","phenotypes":{"excluded":[],"present":["HP:0000548","HP:0002652","HP:0006385"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002606-9615","url":"https://omia.org/OMIA002606/9615/"},"species":"NCBITaxon:9615","summary":"Skeletal dysplasia 3, PCYT1A-related. Expected gene PCYT1A (ENSCAFG00845029954), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Labrador Retriever","disease_group_id":"VHCASEGROUP:omia-2608","evaluation":{"discovery_mask_disease_ids":["OMIA:002608-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9bd702be166fd970871debdd0aad61a2bfe37a074d563bcccbef61674772083f","OMIA:002608-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020199","id":"case-omia-002608-atp7a","label":"Modifier of copper toxicosis, ATP7A-related","phenotypes":{"excluded":[],"present":["HP:0000707","HP:0001251","HP:0001409","HP:0001508","HP:0002028","HP:0011967","HP:0200123"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2016,"reference":{"label":"OMIA:002608-9615","url":"https://omia.org/OMIA002608/9615/"},"species":"NCBITaxon:9615","summary":"Modifier of copper toxicosis, ATP7A-related. Expected gene ATP7A (ENSCAFG00845020199), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Australian Shepherd","disease_group_id":"VHCASEGROUP:omia-2623","evaluation":{"discovery_mask_disease_ids":["OMIA:002623-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:8aa2cd2f7079d0802610783d6e8134c84fca96f8d89e6e5736581c4fc8c52a8d","OMIA:002623-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845028016","id":"case-omia-002623-stk36","label":"Ciliary dyskinesia, primary, STK36-related","phenotypes":{"excluded":[],"present":["HP:0002205","HP:0012265","HP:0031417"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002623-9615","url":"https://omia.org/OMIA002623/9615/"},"species":"NCBITaxon:9615","summary":"Ciliary dyskinesia, primary, STK36-related. Expected gene STK36 (ENSCAFG00845028016), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"German Spitz","disease_group_id":"VHCASEGROUP:omia-2646","evaluation":{"discovery_mask_disease_ids":["OMIA:002646-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:39582ba59cdc8457794ca137f33925f9909327505ea8527c78dfa07a1e80d610","OMIA:002646-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845027102","id":"case-omia-002646-gucy2d","label":"Retinal atrophy, progressive, GUCY2D-related","phenotypes":{"excluded":[],"present":["HP:0001105","HP:0007875","HP:0030329"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002646-9615","url":"https://omia.org/OMIA002646/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, progressive, GUCY2D-related. Expected gene GUCY2D (ENSCAFG00845027102), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Weimaraner","disease_group_id":"VHCASEGROUP:omia-2663","evaluation":{"discovery_mask_disease_ids":["OMIA:002663-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:1307e4a8eeef6842f34c9a73210a35fd4117bc61421499700f6a31715b2b7c6d","OMIA:002663-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845009439","id":"case-omia-002663-tnr","label":"Dystonia-ataxia syndrome, paroxysmal, TNR-related","phenotypes":{"excluded":[],"present":["HP:0001288","HP:0002268","HP:0100022"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002663-9615","url":"https://omia.org/OMIA002663/9615/"},"species":"NCBITaxon:9615","summary":"Dystonia-ataxia syndrome, paroxysmal, TNR-related. Expected gene TNR (ENSCAFG00845009439), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Basenji","disease_group_id":"VHCASEGROUP:omia-2683","evaluation":{"discovery_mask_disease_ids":["OMIA:002683-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b57f78ba60b6ca576e1cfd4fb5afcc57899c9ac439edd15e8e5696818cf06384","OMIA:002683-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845021476","id":"case-omia-002683-fan1","label":"Fanconi syndrome, FAN1-related","phenotypes":{"excluded":[],"present":["HP:0000083","HP:0000124","HP:0000707","HP:0001324","HP:0001824","HP:0001919","HP:0001942","HP:0002909","HP:0012211"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2011,"reference":{"label":"OMIA:002683-9615","url":"https://omia.org/OMIA002683/9615/"},"species":"NCBITaxon:9615","summary":"Fanconi syndrome, FAN1-related. Expected gene FAN1 (ENSCAFG00845021476), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Manchester Terrier","disease_group_id":"VHCASEGROUP:omia-2710","evaluation":{"discovery_mask_disease_ids":["OMIA:002710-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:416f87d2da85bcfc200b329e968a01011da1e950f0cdefbedcd5edfff115b3be","OMIA:002710-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845014429","id":"case-omia-002710-abcc9","label":"Cardiomyopathy, dilated, ABCC9-related","phenotypes":{"excluded":[],"present":["HP:0001644","HP:0001645","HP:0001699"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002710-9615","url":"https://omia.org/OMIA002710/9615/"},"species":"NCBITaxon:9615","summary":"Cardiomyopathy, dilated, ABCC9-related. Expected gene ABCC9 (ENSCAFG00845014429), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"German Shepherd Dog","disease_group_id":"VHCASEGROUP:omia-2716","evaluation":{"discovery_mask_disease_ids":["OMIA:002716-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:6da8c64d43157d2a6a52537ab6ca4fd394ca3ee816fda7c61e3ffc1d157be45a","OMIA:002716-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845005808","id":"case-omia-002716-mchr2","label":"Megaoesophagus, MCHR2-related","phenotypes":{"excluded":[],"present":["HP:0000839","HP:0011951","HP:0012020"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2022,"reference":{"label":"OMIA:002716-9615","url":"https://omia.org/OMIA002716/9615/"},"species":"NCBITaxon:9615","summary":"Megaoesophagus, MCHR2-related. Expected gene MCHR2 (ENSCAFG00845005808), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Saarloos Wolfhond","disease_group_id":"VHCASEGROUP:omia-2728","evaluation":{"discovery_mask_disease_ids":["OMIA:002728-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:fee655e8ae6861038318fda265c80b8b2096b46de50fa6956e881852bf759665","OMIA:002728-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008933","id":"case-omia-002728-pcyt2","label":"PCYT2 deficiency","phenotypes":{"excluded":[],"present":["HP:0000529","HP:0000546","HP:0000572","HP:0000708","HP:0000764","HP:0001105","HP:0001258","HP:0001268","HP:0001288","HP:0003690","HP:0012444","HP:0040078"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2024,"reference":{"label":"OMIA:002728-9615","url":"https://omia.org/OMIA002728/9615/"},"species":"NCBITaxon:9615","summary":"PCYT2 deficiency. Expected gene PCYT2 (ENSCAFG00845008933), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Great Pyrenees","disease_group_id":"VHCASEGROUP:omia-2780","evaluation":{"discovery_mask_disease_ids":["OMIA:002780-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:d607d3077342cf846549baee04ce7e7d05c59506015ed3cb91e5add5b2c93fe9","OMIA:002780-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845020013","id":"case-omia-002780-sacs","label":"Ataxia, spastic, SACS-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0002073","HP:0002497","HP:0007009","HP:0009830"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002780-9615","url":"https://omia.org/OMIA002780/9615/"},"species":"NCBITaxon:9615","summary":"Ataxia, spastic, SACS-related. Expected gene SACS (ENSCAFG00845020013), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Nova Scotia Duck Tolling Retriever","disease_group_id":"VHCASEGROUP:omia-2796","evaluation":{"discovery_mask_disease_ids":["OMIA:002796-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:bee6e36ee43eec339dc393cefef70f71b502cf9ef8e41cdea90f85de3ee13256","OMIA:002796-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010163","id":"case-omia-002796-lmna","label":"Cardiomyopathy, dilated, LMNA-related","phenotypes":{"excluded":[],"present":["HP:0001635","HP:0001644","HP:0001685","HP:0001699"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002796-9615","url":"https://omia.org/OMIA002796/9615/"},"species":"NCBITaxon:9615","summary":"Cardiomyopathy, dilated, LMNA-related. Expected gene LMNA (ENSCAFG00845010163), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Eurasier","disease_group_id":"VHCASEGROUP:omia-2814","evaluation":{"discovery_mask_disease_ids":["OMIA:002814-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:7841a46984152d8525d5fe90c1d8f54808fbc87819dc9e4f7413dfffb47d0f9c","OMIA:002814-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008187","id":"case-omia-002814-mecr","label":"Polioencephalopathy, MECR-related","phenotypes":{"excluded":[],"present":["HP:0001288","HP:0002283","HP:0012444","HP:0020049"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2023,"reference":{"label":"OMIA:002814-9615","url":"https://omia.org/OMIA002814/9615/"},"species":"NCBITaxon:9615","summary":"Polioencephalopathy, MECR-related. Expected gene MECR (ENSCAFG00845008187), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Lancashire Heeler","disease_group_id":"VHCASEGROUP:omia-2916","evaluation":{"discovery_mask_disease_ids":["OMIA:002916-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:84f8947ac4af015fb29585be5e9ec569bdaa2a045b305ee4040d2ee0171c7e79","OMIA:002916-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845023922","id":"case-omia-002916-itpr3","label":"Charcot-Marie-Tooth disease, ITPR3-related","phenotypes":{"excluded":[],"present":["HP:0003431","HP:0003457","HP:0009830","HP:0033383"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2025,"reference":{"label":"OMIA:002916-9615","url":"https://omia.org/OMIA002916/9615/"},"species":"NCBITaxon:9615","summary":"Charcot-Marie-Tooth disease, ITPR3-related. Expected gene ITPR3 (ENSCAFG00845023922), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} | |
| {"breed":"Basset Hound","disease_group_id":"VHCASEGROUP:omia-3010","evaluation":{"discovery_mask_disease_ids":["OMIA:003010-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:b3f180e652d40a623410696df48fd96b2247f73a42982499d80f35369822febb","OMIA:003010-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845016557","id":"case-omia-003010-rbck1","label":"Polyglucosan body myopathy, RBCK1-related","phenotypes":{"excluded":[],"present":["HP:0001635","HP:0001699","HP:0003690"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2025,"reference":{"label":"OMIA:003010-9615","url":"https://omia.org/OMIA003010/9615/"},"species":"NCBITaxon:9615","summary":"Polyglucosan body myopathy, RBCK1-related. Expected gene RBCK1 (ENSCAFG00845016557), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Poodle, Standard","disease_group_id":"VHCASEGROUP:omia-3028","evaluation":{"discovery_mask_disease_ids":["OMIA:003028-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:82299265e4c70765205f25e379fd950c69de1dac00d9d2911d932ed033d15312","OMIA:003028-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845010144","id":"case-omia-003028-spata7","label":"Retinal atrophy, cone-rod dystrophy, SPATA7-related","phenotypes":{"excluded":[],"present":["HP:0000512","HP:0000529","HP:0012047"]},"provenance":{"mode_1_is_circular":false,"phenotype_source":"omia-structured"},"publication_year":2025,"reference":{"label":"OMIA:003028-9615","url":"https://omia.org/OMIA003028/9615/"},"species":"NCBITaxon:9615","summary":"Retinal atrophy, cone-rod dystrophy, SPATA7-related. Expected gene SPATA7 (ENSCAFG00845010144), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations."} | |
| {"breed":"Mixed Breed","disease_group_id":"VHCASEGROUP:omia-3056","evaluation":{"discovery_mask_disease_ids":["OMIA:003056-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:9a5d3d5be80bd4a402c159bcb8b06d65913e41c71278638570965cc1162a5d00","OMIA:003056-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845030751","id":"case-omia-003056-gatm","label":"Myopathy, creatine deficiency disorder, GATM-related","phenotypes":{"excluded":[],"present":["HP:0003202","HP:0003546","HP:0003554","HP:0003700"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2026,"reference":{"label":"OMIA:003056-9615","url":"https://omia.org/OMIA003056/9615/"},"species":"NCBITaxon:9615","summary":"Myopathy, creatine deficiency disorder, GATM-related. Expected gene GATM (ENSCAFG00845030751), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Mixed Breed","disease_group_id":"VHCASEGROUP:omia-3057","evaluation":{"discovery_mask_disease_ids":["OMIA:003057-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:a9f742e67560b0fa0a901f804cdbed558b38b3d3f5ce9689c2ed855380b6e242","OMIA:003057-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845003523","id":"case-omia-003057-emc1","label":"Cerebellar atrophy, EMC1-related","phenotypes":{"excluded":[],"present":["HP:0001251","HP:0001272","HP:0002073"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2026,"reference":{"label":"OMIA:003057-9615","url":"https://omia.org/OMIA003057/9615/"},"species":"NCBITaxon:9615","summary":"Cerebellar atrophy, EMC1-related. Expected gene EMC1 (ENSCAFG00845003523), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Rottweiler","disease_group_id":"VHCASEGROUP:omia-3059","evaluation":{"discovery_mask_disease_ids":["OMIA:003059-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:e9ecb4ecbc32f365484521304f265ad63822f2686d916acdf0ea1829f2f8566c","OMIA:003059-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845008772","id":"case-omia-003059-tg","label":"Hypothyroidism and dwarfism, TG-related","phenotypes":{"excluded":[],"present":["HP:0000708","HP:0001072","HP:0001510","HP:0002925"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2026,"reference":{"label":"OMIA:003059-9615","url":"https://omia.org/OMIA003059/9615/"},"species":"NCBITaxon:9615","summary":"Hypothyroidism and dwarfism, TG-related. Expected gene TG (ENSCAFG00845008772), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |
| {"breed":"Belgian Shepherd Dog, Malinois","disease_group_id":"VHCASEGROUP:omia-3061","evaluation":{"discovery_mask_disease_ids":["OMIA:003061-9615"],"discovery_mask_evidence_ids":["OMIA-EVID:4a4c39c278f8831c11190f01062fd7800fbfe152b912832741e59a7f432c12dd","OMIA:003061-9615"],"temporal_status":"requires-historical-snapshot"},"expected_gene":"ENSCAFG00845022681","id":"case-omia-003061-necap1","label":"Leukoencephalomyelopathy, NECAP1-related","phenotypes":{"excluded":[],"present":["HP:0001105","HP:0002059","HP:0002283","HP:0020049"]},"provenance":{"mode_1_is_circular":true,"phenotype_source":"curated-from-omia-text"},"publication_year":2026,"reference":{"label":"OMIA:003061-9615","url":"https://omia.org/OMIA003061/9615/"},"species":"NCBITaxon:9615","summary":"Leukoencephalomyelopathy, NECAP1-related. Expected gene NECAP1 (ENSCAFG00845022681), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review."} | |