breed stringlengths 4 76 | disease_group_id stringlengths 19 21 | evaluation dict | expected_gene stringlengths 18 18 | id stringlengths 19 40 | label stringlengths 7 71 | phenotypes dict | provenance dict | publication_year int64 1.99k 2.03k | reference dict | species stringclasses 1
value | summary stringlengths 150 236 |
|---|---|---|---|---|---|---|---|---|---|---|---|
American Staffordshire Terrier, Beagle, Belgian Shepherd Dog, Malinois | VHCASEGROUP:omia-31 | {
"discovery_mask_disease_ids": [
"OMIA:000031-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:e3fbc03b5ef2e5334a822c10371e48120a341d8fe7a5761bde81b9ed451dd88b",
"OMIA:000031-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845028517 | case-omia-000031-mlph | Coat colour, dilution, MLPH-related | {
"excluded": [],
"present": [
"HP:0001596",
"HP:0002232",
"HP:0002287",
"HP:0003493",
"HP:0011123",
"HP:0032152",
"HP:5210230"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,007 | {
"label": "OMIA:000031-9615",
"url": "https://omia.org/OMIA000031/9615/"
} | NCBITaxon:9615 | 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. |
Brittany Spaniel | VHCASEGROUP:omia-155 | {
"discovery_mask_disease_ids": [
"OMIA:000155-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:5c6b88e138996e2055bf55184e244321e58742a12852a337b2a89d50a4c4a0c1",
"OMIA:000155-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845010104 | case-omia-000155-c3 | C3 deficiency | {
"excluded": [],
"present": [
"HP:0000083",
"HP:0000793",
"HP:0002718",
"HP:0002719"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,998 | {
"label": "OMIA:000155-9615",
"url": "https://omia.org/OMIA000155/9615/"
} | NCBITaxon:9615 | C3 deficiency. Expected gene C3 (ENSCAFG00845010104), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Alaskan Husky, Australian Kelpie, Australian Shepherd | VHCASEGROUP:omia-218 | {
"discovery_mask_disease_ids": [
"OMIA:000218-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:47569886170853a701cd4bd035db47f1e4db2285fd6e35508d3420194cbd23fe",
"OMIA:000218-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845028988 | case-omia-000218-nhej1 | Choroidal hypoplasia, NHEJ1-related | {
"excluded": [],
"present": [
"HP:0000505",
"HP:0000541",
"HP:0000588",
"HP:0001105",
"HP:0007731",
"HP:0008052",
"HP:0012841"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,007 | {
"label": "OMIA:000218-9615",
"url": "https://omia.org/OMIA000218/9615/"
} | NCBITaxon:9615 | 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. |
Jack Russell Terrier | VHCASEGROUP:omia-220 | {
"discovery_mask_disease_ids": [
"OMIA:000220-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:a79624599efe348193071fc8ae015d348b53e8a5291cc5d39a159eae10e4095e",
"OMIA:000220-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845027748 | case-omia-000220-prkdc | Severe combined immunodeficiency disease, autosomal, PRKDC-related | {
"excluded": [],
"present": [
"HP:0002024",
"HP:0004430",
"HP:0005387"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,002 | {
"label": "OMIA:000220-9615",
"url": "https://omia.org/OMIA000220/9615/"
} | NCBITaxon:9615 | 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. |
Basset Hound, Collie, Mixed Breed | VHCASEGROUP:omia-248 | {
"discovery_mask_disease_ids": [
"OMIA:000248-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:c3011f5db8e91b34afab7145dd52b7998877314ebef994202166fa526cd92502",
"OMIA:000248-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845008344 | case-omia-000248-ap3b1 | Neutropenia, cyclic | {
"excluded": [],
"present": [
"HP:0001954",
"HP:0006725",
"HP:0011034",
"HP:0020116",
"HP:0040289"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,003 | {
"label": "OMIA:000248-9615",
"url": "https://omia.org/OMIA000248/9615/"
} | NCBITaxon:9615 | Neutropenia, cyclic. Expected gene AP3B1 (ENSCAFG00845008344), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
English Bulldog, French Bulldog, Labrador Retriever | VHCASEGROUP:omia-256 | {
"discovery_mask_disease_ids": [
"OMIA:000256-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:baacce7b4cd5b7ac79a442b1875647c72a8fcea7522c43b248ab60307b433dbc",
"OMIA:000256-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845026546 | case-omia-000256-slc3a1 | Cystinuria, type I - A | {
"excluded": [],
"present": [
"HP:0000083",
"HP:0000796",
"HP:0010474",
"HP:0012072",
"HP:0012786"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,000 | {
"label": "OMIA:000256-9615",
"url": "https://omia.org/OMIA000256/9615/"
} | NCBITaxon:9615 | 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. |
Alaskan Husky, Alaskan Malamute, American Eskimo Dog | VHCASEGROUP:omia-263 | {
"discovery_mask_disease_ids": [
"OMIA:000263-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:23583e392167eaf792203ec8c094562da1a6db01bbf941ebc0e9cdd9268c5372",
"OMIA:000263-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845022725 | case-omia-000263-sod1 | Degenerative myelopathy | {
"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... | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,009 | {
"label": "OMIA:000263-9615",
"url": "https://omia.org/OMIA000263/9615/"
} | NCBITaxon:9615 | Degenerative myelopathy. Expected gene SOD1 (ENSCAFG00845022725), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Alaskan Husky, Alaskan Malamute, American Eskimo Dog | VHCASEGROUP:omia-263 | {
"discovery_mask_disease_ids": [
"OMIA:000263-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:b77d0f54db5d71d3d155e99509676f2e42280f3fff764eca3ee1e09e9d6c8e64",
"OMIA:000263-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845020232 | case-omia-000263-sp110 | Degenerative myelopathy | {
"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... | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,009 | {
"label": "OMIA:000263-9615",
"url": "https://omia.org/OMIA000263/9615/"
} | NCBITaxon:9615 | Degenerative myelopathy. Expected gene SP110 (ENSCAFG00845020232), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Chow Chow, Dachshund, French Bulldog | VHCASEGROUP:omia-272 | {
"discovery_mask_disease_ids": [
"OMIA:000272-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:39a896fea41bb6f9dcc5102eeea31dec351c6286c851d1de26cab714d9b324ff",
"OMIA:000272-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845015136 | case-omia-000272-fgf19 | Dermoid sinus | {
"excluded": [],
"present": [
"HP:0000924",
"HP:0002098",
"HP:0002144",
"HP:0002414",
"HP:0005857",
"HP:0006946",
"HP:0025247"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,007 | {
"label": "OMIA:000272-9615",
"url": "https://omia.org/OMIA000272/9615/"
} | NCBITaxon:9615 | Dermoid sinus. Expected gene FGF19 (ENSCAFG00845015136), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Chow Chow, Dachshund, French Bulldog | VHCASEGROUP:omia-272 | {
"discovery_mask_disease_ids": [
"OMIA:000272-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:e8d4db5440474f5d564988c9a2bab3ee2e9c4f91813e40dc9eaa748da1292bef",
"OMIA:000272-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845015080 | case-omia-000272-fgf3 | Dermoid sinus | {
"excluded": [],
"present": [
"HP:0000924",
"HP:0002098",
"HP:0002144",
"HP:0002414",
"HP:0005857",
"HP:0006946",
"HP:0025247"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,007 | {
"label": "OMIA:000272-9615",
"url": "https://omia.org/OMIA000272/9615/"
} | NCBITaxon:9615 | Dermoid sinus. Expected gene FGF3 (ENSCAFG00845015080), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Chow Chow, Dachshund, French Bulldog | VHCASEGROUP:omia-272 | {
"discovery_mask_disease_ids": [
"OMIA:000272-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:f557444dfe720ee01c07447bb7e801219c0c098478aaab29371d9c01ab2f6bcc",
"OMIA:000272-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845015112 | case-omia-000272-fgf4-retrogene-on-cfa12 | Dermoid sinus | {
"excluded": [],
"present": [
"HP:0000924",
"HP:0002098",
"HP:0002144",
"HP:0002414",
"HP:0005857",
"HP:0006946",
"HP:0025247"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,007 | {
"label": "OMIA:000272-9615",
"url": "https://omia.org/OMIA000272/9615/"
} | NCBITaxon:9615 | 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. |
Chow Chow, Dachshund, French Bulldog | VHCASEGROUP:omia-272 | {
"discovery_mask_disease_ids": [
"OMIA:000272-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:30ccc50e5db0bd9a840acc3d95a4325c9bf360d57d76e7c2ea8aa55eeee7ef97",
"OMIA:000272-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845015244 | case-omia-000272-oraov1 | Dermoid sinus | {
"excluded": [],
"present": [
"HP:0000924",
"HP:0002098",
"HP:0002144",
"HP:0002414",
"HP:0005857",
"HP:0006946",
"HP:0025247"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,007 | {
"label": "OMIA:000272-9615",
"url": "https://omia.org/OMIA000272/9615/"
} | NCBITaxon:9615 | Dermoid sinus. Expected gene ORAOV1 (ENSCAFG00845015244), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Chinese Crested, Peruvian Hairless Dog, Xoloitzcuintli | VHCASEGROUP:omia-323 | {
"discovery_mask_disease_ids": [
"OMIA:000323-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:f3007a5ae69485f4cbc068afb549046e54bec7dd0eddabfcef1fd10cabe431a3",
"OMIA:000323-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845013015 | case-omia-000323-foxi3 | Ectodermal dysplasia | {
"excluded": [],
"present": [
"HP:0000164",
"HP:0000968",
"HP:0006482",
"HP:0008070",
"HP:0100022"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,008 | {
"label": "OMIA:000323-9615",
"url": "https://omia.org/OMIA000323/9615/"
} | NCBITaxon:9615 | Ectodermal dysplasia. Expected gene FOXI3 (ENSCAFG00845013015), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Alapaha Blue Blood Bulldog, American Pit Bull Terrier, Catahoula Leopard Dog | VHCASEGROUP:omia-328 | {
"discovery_mask_disease_ids": [
"OMIA:000328-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:84b10808f1253035c43140e997c753fcbdaea4a104f97426685838d8dcdb747e",
"OMIA:000328-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845008674 | case-omia-000328-adamts2 | Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related | {
"excluded": [],
"present": [
"HP:0000974",
"HP:0001030",
"HP:0001075",
"HP:0001382"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,019 | {
"label": "OMIA:000328-9615",
"url": "https://omia.org/OMIA000328/9615/"
} | NCBITaxon:9615 | 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. |
English Springer Spaniel | VHCASEGROUP:omia-396 | {
"discovery_mask_disease_ids": [
"OMIA:000396-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:b78f4ad21d4f328d95b737c8feff8ba2c4c5c3819a121f25e4c6cf3cf08b21d3",
"OMIA:000396-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845014722 | case-omia-000396-fuca1 | Fucosidosis, alpha | {
"excluded": [],
"present": [
"HP:0000505",
"HP:0000529",
"HP:0001268",
"HP:0001824",
"HP:0002024",
"HP:0002073",
"HP:0002529",
"HP:0003202",
"HP:0003251"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,996 | {
"label": "OMIA:000396-9615",
"url": "https://omia.org/OMIA000396/9615/"
} | NCBITaxon:9615 | Fucosidosis, alpha. Expected gene FUCA1 (ENSCAFG00845014722), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Alaskan Husky, Beagle, English Springer Spaniel | VHCASEGROUP:omia-402 | {
"discovery_mask_disease_ids": [
"OMIA:000402-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:e54cda9c635a23f107d9363b1060555682b14952cce5880560183f2838636130",
"OMIA:000402-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845023378 | case-omia-000402-glb1 | Gangliosidosis, GM1 | {
"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... | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,000 | {
"label": "OMIA:000402-9615",
"url": "https://omia.org/OMIA000402/9615/"
} | NCBITaxon:9615 | Gangliosidosis, GM1. Expected gene GLB1 (ENSCAFG00845023378), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
German Pinscher, Maltese Terrier | VHCASEGROUP:omia-418 | {
"discovery_mask_disease_ids": [
"OMIA:000418-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:a210e8a4ee8f77a7a16409be97ae9df3b1a3f2e180ae7136cd63533f611ab8bc",
"OMIA:000418-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845006712 | case-omia-000418-g6pc | Glycogen storage disease Ia | {
"excluded": [],
"present": [
"HP:0000083",
"HP:0000096",
"HP:0001402",
"HP:0001508",
"HP:0001510",
"HP:0001988",
"HP:0003128",
"HP:0003162",
"HP:0006568",
"HP:0008897"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,997 | {
"label": "OMIA:000418-9615",
"url": "https://omia.org/OMIA000418/9615/"
} | NCBITaxon:9615 | 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. |
Finnish Lapphund, Lapponian Herder, Swedish Lapphund | VHCASEGROUP:omia-419 | {
"discovery_mask_disease_ids": [
"OMIA:000419-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:d03c347ffb0e71f722b84961df5217df5717c279e9799f19ddf3588b0e4b5e74",
"OMIA:000419-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845013429 | case-omia-000419-gaa | Glycogen storage disease II | {
"excluded": [],
"present": [
"HP:0001324",
"HP:0003323",
"HP:0003546"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,013 | {
"label": "OMIA:000419-9615",
"url": "https://omia.org/OMIA000419/9615/"
} | NCBITaxon:9615 | 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. |
American Cocker Spaniel, Deutscher Wachtelhund, English Cocker Spaniel | VHCASEGROUP:omia-421 | {
"discovery_mask_disease_ids": [
"OMIA:000421-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:994859dcd3eb41ad1eb38db17f07cdff79eb04ac3504b29550f15ee456d1e48f",
"OMIA:000421-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845022883 | case-omia-000421-pfkm | Glycogen storage disease VII | {
"excluded": [],
"present": [
"HP:0001324",
"HP:0001878",
"HP:0001931",
"HP:0003202",
"HP:0003236",
"HP:0003394",
"HP:0003546",
"HP:0004870",
"HP:0030148",
"HP:0031664"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,996 | {
"label": "OMIA:000421-9615",
"url": "https://omia.org/OMIA000421/9615/"
} | NCBITaxon:9615 | 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. |
Belgian Shepherd Dog, Malinois, Border Collie, Boxer | VHCASEGROUP:omia-437 | {
"discovery_mask_disease_ids": [
"OMIA:000437-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:9d703978d9028caa44384f7212e370c9d5b08bf69535c18bf6deb724f39e4767",
"OMIA:000437-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845030098 | case-omia-000437-f8 | Haemophilia A | {
"excluded": [],
"present": [
"HP:0001892",
"HP:0002423",
"HP:0003560",
"HP:0003645",
"HP:0004420",
"HP:0005542",
"HP:0007875",
"HP:0100545"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,002 | {
"label": "OMIA:000437-9615",
"url": "https://omia.org/OMIA000437/9615/"
} | NCBITaxon:9615 | Haemophilia A. Expected gene F8 (ENSCAFG00845030098), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Airedale Terrier, Alaskan Malamute, American Cocker Spaniel | VHCASEGROUP:omia-438 | {
"discovery_mask_disease_ids": [
"OMIA:000438-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:aeb0964d94adfc09a6219f3d98101b3871bc5b3ddf4be27c2ce5da01402e396c",
"OMIA:000438-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845029706 | case-omia-000438-f9 | Haemophilia B | {
"excluded": [],
"present": [
"HP:0001892",
"HP:0003645",
"HP:0011858",
"HP:0012532",
"HP:0025085"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,989 | {
"label": "OMIA:000438-9615",
"url": "https://omia.org/OMIA000438/9615/"
} | NCBITaxon:9615 | Haemophilia B. Expected gene F9 (ENSCAFG00845029706), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
French Bulldog, Giant Schnauzer, Rat Terrier | VHCASEGROUP:omia-536 | {
"discovery_mask_disease_ids": [
"OMIA:000536-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:695022d67fd7f85d87a393ab6fb115cb191b7d99ea2e1f5777f903ecd7ff0d01",
"OMIA:000536-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845017327 | case-omia-000536-tpo | Hypothyroidism, congenital | {
"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... | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,003 | {
"label": "OMIA:000536-9615",
"url": "https://omia.org/OMIA000536/9615/"
} | NCBITaxon:9615 | Hypothyroidism, congenital. Expected gene TPO (ENSCAFG00845017327), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Basset Hound, Belgian Shepherd Dog, Bichon Frise | VHCASEGROUP:omia-543 | {
"discovery_mask_disease_ids": [
"OMIA:000543-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:28ba8cd518cda7679400bfbfffbc846784edbb74035125e8e3ba613a8491561d",
"OMIA:000543-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845028755 | case-omia-000543-eda | Hypohidrotic ectodermal dysplasia, X-linked, EDA-related | {
"excluded": [],
"present": [
"HP:0000968",
"HP:0002205",
"HP:0002719",
"HP:0006482",
"HP:0006532",
"HP:0011136",
"HP:0011947",
"HP:0012804"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,005 | {
"label": "OMIA:000543-9615",
"url": "https://omia.org/OMIA000543/9615/"
} | NCBITaxon:9615 | 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. |
Australian Shepherd, Giant Schnauzer, Komondor | VHCASEGROUP:omia-565 | {
"discovery_mask_disease_ids": [
"OMIA:000565-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:ddaa57ce998b50baab2dec45c4b32e52c3fdfab285f7d0c4d6bd102dc154589d",
"OMIA:000565-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845017022 | case-omia-000565-amn | Intestinal cobalamin malabsorption, AMN-related | {
"excluded": [],
"present": [
"HP:0001508",
"HP:0001889",
"HP:0002024",
"HP:0012120"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,005 | {
"label": "OMIA:000565-9615",
"url": "https://omia.org/OMIA000565/9615/"
} | NCBITaxon:9615 | 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. |
Australian Kelpie, Basset Hound, Beagle | VHCASEGROUP:omia-578 | {
"discovery_mask_disease_ids": [
"OMIA:000578-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:9b1b0abd4d1e8f78206dfc0c3921de839d94b125dd97db0fd75bdea0a28488d7",
"OMIA:000578-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845009690 | case-omia-000578-galc | Krabbe disease | {
"excluded": [],
"present": [
"HP:0002070",
"HP:0002073",
"HP:0002406",
"HP:0003202",
"HP:0003690",
"HP:0009830",
"HP:0040078"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,996 | {
"label": "OMIA:000578-9615",
"url": "https://omia.org/OMIA000578/9615/"
} | NCBITaxon:9615 | Krabbe disease. Expected gene GALC (ENSCAFG00845009690), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
American Toy Terrier, Australian Cattle Dog, Border Collie | VHCASEGROUP:omia-588 | {
"discovery_mask_disease_ids": [
"OMIA:000588-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:0f39ddb9b59aa3c924dd76b5e05b3e2a2809f2d67290d2d0ca1cdba565044e70",
"OMIA:000588-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845001303 | case-omia-000588-adamts17 | Lens luxation | {
"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"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,010 | {
"label": "OMIA:000588-9615",
"url": "https://omia.org/OMIA000588/9615/"
} | NCBITaxon:9615 | Lens luxation. Expected gene ADAMTS17 (ENSCAFG00845001303), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Irish Red and White Setter, Irish Setter, Mixed Breed | VHCASEGROUP:omia-595 | {
"discovery_mask_disease_ids": [
"OMIA:000595-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:63b0caaeb451a2040242e71dc083b6a631a138d06d0903fe337005380892643c",
"OMIA:000595-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845021592 | case-omia-000595-itgb2 | Leukocyte adhesion deficiency, type I | {
"excluded": [],
"present": [
"HP:0002098",
"HP:0002718",
"HP:0002719",
"HP:0003051",
"HP:0004325",
"HP:0005406",
"HP:0032239",
"HP:0033399"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,999 | {
"label": "OMIA:000595-9615",
"url": "https://omia.org/OMIA000595/9615/"
} | NCBITaxon:9615 | 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. |
Bernese Mountain Dog, Flat-Coated Retriever, Golden Retriever | VHCASEGROUP:omia-620 | {
"discovery_mask_disease_ids": [
"OMIA:000620-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:e8552946bcc08a7c39d0ec66bee430ec0184287f6cc5408aab99b2849627c770",
"OMIA:000620-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845024647 | case-omia-000620-tp53 | Histiocytosis, malignant | {
"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"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,017 | {
"label": "OMIA:000620-9615",
"url": "https://omia.org/OMIA000620/9615/"
} | NCBITaxon:9615 | Histiocytosis, malignant. Expected gene TP53 (ENSCAFG00845024647), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Cavalier King Charles Spaniel | VHCASEGROUP:omia-640 | {
"discovery_mask_disease_ids": [
"OMIA:000640-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:7b19f71a72198fa4590da222da8ee453aadd58cb5cb7bcceab41607a7168079b",
"OMIA:000640-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845020199 | case-omia-000640-atp7a | Menkes disease | {
"excluded": [],
"present": [
"HP:0000707",
"HP:0001251",
"HP:0001508",
"HP:0002028"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,026 | {
"label": "OMIA:000640-9615",
"url": "https://omia.org/OMIA000640/9615/"
} | NCBITaxon:9615 | Menkes disease. Expected gene ATP7A (ENSCAFG00845020199), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Boston Terrier, Doberman Pinscher, Golden Retriever | VHCASEGROUP:omia-664 | {
"discovery_mask_disease_ids": [
"OMIA:000664-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:b7e47ba00a28097a2c2e62878e9fd62c07a54804209530598ef066ceb63b7c38",
"OMIA:000664-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845001029 | case-omia-000664-idua | Mucopolysaccharidosis I | {
"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... | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,992 | {
"label": "OMIA:000664-9615",
"url": "https://omia.org/OMIA000664/9615/"
} | NCBITaxon:9615 | Mucopolysaccharidosis I. Expected gene IDUA (ENSCAFG00845001029), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Chesapeake Bay Retriever, Great Dane, Miniature Pinscher | VHCASEGROUP:omia-666 | {
"discovery_mask_disease_ids": [
"OMIA:000666-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:c42453607d25850cd9da98cb5f2b22988682fd4c6d08b0fd7cd47414b01dfeae",
"OMIA:000666-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845007767 | case-omia-000666-arsb | Mucopolysaccharidosis VI | {
"excluded": [],
"present": [
"HP:0000924",
"HP:0001382",
"HP:0001537",
"HP:0001953",
"HP:0002656",
"HP:0003311",
"HP:0007957"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,004 | {
"label": "OMIA:000666-9615",
"url": "https://omia.org/OMIA000666/9615/"
} | NCBITaxon:9615 | Mucopolysaccharidosis VI. Expected gene ARSB (ENSCAFG00845007767), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Brazilian Terrier, German Shepherd Dog | VHCASEGROUP:omia-667 | {
"discovery_mask_disease_ids": [
"OMIA:000667-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:1752f43bc7d3417d643628464d6623c202376dee6f60a2b6881cfe65cf2d6095",
"OMIA:000667-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845013255 | case-omia-000667-gusb | Mucopolysaccharidosis VII | {
"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... | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,998 | {
"label": "OMIA:000667-9615",
"url": "https://omia.org/OMIA000667/9615/"
} | NCBITaxon:9615 | Mucopolysaccharidosis VII. Expected gene GUSB (ENSCAFG00845013255), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Whippet | VHCASEGROUP:omia-683 | {
"discovery_mask_disease_ids": [
"OMIA:000683-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:052011994b23b30d7d7cc334b6c990ebc528aaf132f164278d7e93b95f48c064",
"OMIA:000683-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845024446 | case-omia-000683-mstn | Muscular hypertrophy (double muscling) | {
"excluded": [],
"present": [
"HP:0000472",
"HP:0003394",
"HP:0003712"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,007 | {
"label": "OMIA:000683-9615",
"url": "https://omia.org/OMIA000683/9615/"
} | NCBITaxon:9615 | 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. |
English Springer Spaniel, Heideterrier, Jack Russell Terrier | VHCASEGROUP:omia-685 | {
"discovery_mask_disease_ids": [
"OMIA:000685-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:c041abdf12552a42b5f902952c718b6810cf4b43c0be8c273f77b8011350bbcb",
"OMIA:000685-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845003576 | case-omia-000685-chrne | Myasthenic syndrome, congenital, CHRNE-related | {
"excluded": [],
"present": [
"HP:0001324",
"HP:0003324",
"HP:0003473",
"HP:0020174"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,015 | {
"label": "OMIA:000685-9615",
"url": "https://omia.org/OMIA000685/9615/"
} | NCBITaxon:9615 | 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. |
Basset Hound, Beagle, Brussels Griffon | VHCASEGROUP:omia-690 | {
"discovery_mask_disease_ids": [
"OMIA:000690-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:505451bdb8cd853d3352bc6af00f0df92a9a09311d8a1bf09c8c31646e78a6cf",
"OMIA:000690-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845028631 | case-omia-000690-nhlrc1 | Myoclonus epilepsy of Lafora | {
"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"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,005 | {
"label": "OMIA:000690-9615",
"url": "https://omia.org/OMIA000690/9615/"
} | NCBITaxon:9615 | 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. |
American Bulldog, Australian Cattle Dog, Border Collie | VHCASEGROUP:omia-698 | {
"discovery_mask_disease_ids": [
"OMIA:000698-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:52556e81b8ccdbfc9b48175ef6f991359b481cc36e82b970fb24e502492f6ae3",
"OMIA:000698-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845016951 | case-omia-000698-clcn1 | Myotonia | {
"excluded": [],
"present": [
"HP:0000684",
"HP:0001288",
"HP:0002015",
"HP:0003202",
"HP:0003394",
"HP:0003552",
"HP:0003712",
"HP:0006335",
"HP:0200136"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,999 | {
"label": "OMIA:000698-9615",
"url": "https://omia.org/OMIA000698/9615/"
} | NCBITaxon:9615 | Myotonia. Expected gene CLCN1 (ENSCAFG00845016951), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Afghan Hound, Airedale Terrier, Alaskan Malamute | VHCASEGROUP:omia-703 | {
"discovery_mask_disease_ids": [
"OMIA:000703-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:9ba691665b29d6866861670d6a71b7257d442164307ed24ecfe5641168923479",
"OMIA:000703-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845011460 | case-omia-000703-hcrtr2 | Narcolepsy | {
"excluded": [],
"present": [
"HP:0001262",
"HP:0001324",
"HP:0002330",
"HP:0002494",
"HP:0025199",
"HP:0025233",
"HP:0040078"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,999 | {
"label": "OMIA:000703-9615",
"url": "https://omia.org/OMIA000703/9615/"
} | NCBITaxon:9615 | Narcolepsy. Expected gene HCRTR2 (ENSCAFG00845011460), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Nederlandse Kooikerhondje | VHCASEGROUP:omia-706 | {
"discovery_mask_disease_ids": [
"OMIA:000706-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:bef7490a6fe87c6a008ffe130aeeaa60cc29b807d62e57fb1572e38393b16cf5",
"OMIA:000706-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845007710 | case-omia-000706-iba57 | Necrotising myelopathy, IBA57-related | {
"excluded": [],
"present": [
"HP:0002073",
"HP:0002540",
"HP:0009071"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,023 | {
"label": "OMIA:000706-9615",
"url": "https://omia.org/OMIA000706/9615/"
} | NCBITaxon:9615 | 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. |
English Cocker Spaniel, Springer Spaniel | VHCASEGROUP:omia-770 | {
"discovery_mask_disease_ids": [
"OMIA:000770-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:447b1553e060de35f9dbb91d908e01f9e36ba6bfe3df96c03392f294f73537f2",
"OMIA:000770-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845023800 | case-omia-000770-plp1 | Tremor, X-linked | {
"excluded": [],
"present": [
"HP:0003698",
"HP:0006978",
"HP:0011364"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,990 | {
"label": "OMIA:000770-9615",
"url": "https://omia.org/OMIA000770/9615/"
} | NCBITaxon:9615 | Tremor, X-linked. Expected gene PLP1 (ENSCAFG00845023800), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Bull Terrier, Cairn Terrier, Lagotto Romagnolo | VHCASEGROUP:omia-807 | {
"discovery_mask_disease_ids": [
"OMIA:000807-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:1e3ef36657c4e9c403e880a93bdf4c71435817e1103a2c83c75aa99fe501cc0d",
"OMIA:000807-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845015847 | case-omia-000807-pkd1 | Polycystic kidney disease | {
"excluded": [],
"present": [
"HP:0000083",
"HP:0000113",
"HP:0001399",
"HP:0001407",
"HP:0001650",
"HP:0001718",
"HP:0003270",
"HP:0003774",
"HP:0030148",
"HP:0032092"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,011 | {
"label": "OMIA:000807-9615",
"url": "https://omia.org/OMIA000807/9615/"
} | NCBITaxon:9615 | Polycystic kidney disease. Expected gene PKD1 (ENSCAFG00845015847), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Maltese, Mixed Breed, Poodle | VHCASEGROUP:omia-809 | {
"discovery_mask_disease_ids": [
"OMIA:000809-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:3a5d40af99a61e73a20b98445fb6eefc94ef0feb58709a9f35c526e42a822f8a",
"OMIA:000809-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845015887 | case-omia-000809-jak2 | Polycythemia | {
"excluded": [],
"present": [
"HP:0001898",
"HP:0001899",
"HP:0100724"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,011 | {
"label": "OMIA:000809-9615",
"url": "https://omia.org/OMIA000809/9615/"
} | NCBITaxon:9615 | Polycythemia. Expected gene JAK2 (ENSCAFG00845015887), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Irish Setter | VHCASEGROUP:omia-882 | {
"discovery_mask_disease_ids": [
"OMIA:000882-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:294c6822c91d8ae916be0d2e769f7298d2fba6de2340b49b13762e4235410595",
"OMIA:000882-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845001610 | case-omia-000882-pde6b | Retinal atrophy - Rod-cone dysplasia 1 | {
"excluded": [],
"present": [
"HP:0000510",
"HP:0000529",
"HP:0000546",
"HP:0000556",
"HP:0000572",
"HP:0000608",
"HP:0001089",
"HP:0001105"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,993 | {
"label": "OMIA:000882-9615",
"url": "https://omia.org/OMIA000882/9615/"
} | NCBITaxon:9615 | 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. |
Basset Hound, Cardigan Welsh Corgi | VHCASEGROUP:omia-899 | {
"discovery_mask_disease_ids": [
"OMIA:000899-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:2b9c5fda1859f68944821d869c502ba2c3af012901044f6f24255ce6101448da",
"OMIA:000899-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845017057 | case-omia-000899-il2rg | Severe combined immunodeficiency disease, X-linked | {
"excluded": [],
"present": [
"HP:0001508",
"HP:0001510",
"HP:0002719",
"HP:0002860",
"HP:0004430",
"HP:0005387",
"HP:0005390",
"HP:0005403",
"HP:0012190",
"HP:5210139"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,994 | {
"label": "OMIA:000899-9615",
"url": "https://omia.org/OMIA000899/9615/"
} | NCBITaxon:9615 | 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. |
Alaskan Malamute, Chihuahua, Collie | VHCASEGROUP:omia-938 | {
"discovery_mask_disease_ids": [
"OMIA:000938-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:df8c84105b937ce12da822cda8d0573caaee15c8d9cda654b382ea60af2a2b14",
"OMIA:000938-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845002657 | case-omia-000938-nkx2-8 | Spinal dysraphism | {
"excluded": [],
"present": [
"HP:0000011",
"HP:0000776",
"HP:0000902",
"HP:0002414",
"HP:0002607",
"HP:0008467",
"HP:0010301"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,013 | {
"label": "OMIA:000938-9615",
"url": "https://omia.org/OMIA000938/9615/"
} | NCBITaxon:9615 | Spinal dysraphism. Expected gene NKX2-8 (ENSCAFG00845002657), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Golden Retriever, Great Pyrenees, Mixed Breed | VHCASEGROUP:omia-1000 | {
"discovery_mask_disease_ids": [
"OMIA:001000-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:8d16ede6ea96b8fe5d2c7d7b0ff37e5b3d42863863277fdd42018199e65d3210",
"OMIA:001000-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845007943 | case-omia-001000-itga2b | Thrombasthenia | {
"excluded": [],
"present": [
"HP:0000225",
"HP:0001627",
"HP:0001892",
"HP:0003540"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,000 | {
"label": "OMIA:001000-9615",
"url": "https://omia.org/OMIA001000/9615/"
} | NCBITaxon:9615 | Thrombasthenia. Expected gene ITGA2B (ENSCAFG00845007943), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
American Staffordshire Terrier, Australian Shepherd, Bichon Frise | VHCASEGROUP:omia-1033 | {
"discovery_mask_disease_ids": [
"OMIA:001033-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:14833d1b25d9dcf33359857e816de8d5c54c3cb2adfd051eaa6c1909f1876da4",
"OMIA:001033-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845002932 | case-omia-001033-slc2a9 | Urolithiasis | {
"excluded": [],
"present": [
"HP:0000010",
"HP:0000110",
"HP:0000787",
"HP:0000791",
"HP:0000796",
"HP:0001942",
"HP:0002597",
"HP:0008718",
"HP:0010474",
"HP:0012587",
"HP:0034548"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,008 | {
"label": "OMIA:001033-9615",
"url": "https://omia.org/OMIA001033/9615/"
} | NCBITaxon:9615 | Urolithiasis. Expected gene SLC2A9 (ENSCAFG00845002932), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Doberman Pinscher, German Shepherd Dog, Golden Retriever | VHCASEGROUP:omia-1057 | {
"discovery_mask_disease_ids": [
"OMIA:001057-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:f3e98fd85f3705249c36dbea81baaacb93cefdc31ed8276eb57d74a8b912934b",
"OMIA:001057-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845029798 | case-omia-001057-vwf | Von Willebrand disease I | {
"excluded": [],
"present": [
"HP:0000225",
"HP:0001643",
"HP:0001892",
"HP:0002239",
"HP:0011896",
"HP:0030148"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,998 | {
"label": "OMIA:001057-9615",
"url": "https://omia.org/OMIA001057/9615/"
} | NCBITaxon:9615 | 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. |
Bedlington Terrier, Cavalier King Charles Spaniel, Dalmatian | VHCASEGROUP:omia-1071 | {
"discovery_mask_disease_ids": [
"OMIA:001071-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:07b7ab21c4c27aaf1e0dc4b23511b009ace39f685f03699296a176f1eef5ad9d",
"OMIA:001071-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845020988 | case-omia-001071-atp7b | Wilson disease | {
"excluded": [],
"present": [
"HP:0001399",
"HP:0001409",
"HP:0001824",
"HP:0002605",
"HP:0003155",
"HP:0006554",
"HP:0011967",
"HP:0025321",
"HP:0200120",
"HP:0200123"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,016 | {
"label": "OMIA:001071-9615",
"url": "https://omia.org/OMIA001071/9615/"
} | NCBITaxon:9615 | Wilson disease. Expected gene ATP7B (ENSCAFG00845020988), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Australian Cattle Dog, Australian Labradoodle, Border Collie | VHCASEGROUP:omia-1081 | {
"discovery_mask_disease_ids": [
"OMIA:001081-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:3c4880e3bd95f3f62f6813a4e5fa2124eead43043022e3cbb50b1d5c7f5d0c20",
"OMIA:001081-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845017750 | case-omia-001081-dmd | Muscular dystrophy, Duchenne type | {
"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... | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,992 | {
"label": "OMIA:001081-9615",
"url": "https://omia.org/OMIA001081/9615/"
} | NCBITaxon:9615 | 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. |
Alaskan Husky, Yorkshire Terrier | VHCASEGROUP:omia-1097 | {
"discovery_mask_disease_ids": [
"OMIA:001097-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:0de905bcef9958206b615f227d6e29195684c9139999e61f46fab15bbe4bad63",
"OMIA:001097-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845016955 | case-omia-001097-slc19a3 | Necrotising encephalopathy, subacute, of Leigh | {
"excluded": [],
"present": [
"HP:0001288",
"HP:0002529",
"HP:0003287",
"HP:0003690",
"HP:0006789",
"HP:0006976"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,013 | {
"label": "OMIA:001097-9615",
"url": "https://omia.org/OMIA001097/9615/"
} | NCBITaxon:9615 | 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. |
Cocker Spaniel, Navasota (mixed breed), Samoyed | VHCASEGROUP:omia-1112 | {
"discovery_mask_disease_ids": [
"OMIA:001112-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:803d0c363e0ac9a2f014d1a8222dcd9bf12a998b88392241f3f21cdb93a834fb",
"OMIA:001112-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845020584 | case-omia-001112-col4a5 | Nephritis, X-linked | {
"excluded": [],
"present": [
"HP:0000083",
"HP:0000097",
"HP:0000407",
"HP:0001757",
"HP:0002907",
"HP:0003774",
"HP:0011501",
"HP:0012622",
"HP:0032417",
"HP:0033321",
"HP:0033495"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,994 | {
"label": "OMIA:001112-9615",
"url": "https://omia.org/OMIA001112/9615/"
} | NCBITaxon:9615 | Nephritis, X-linked. Expected gene COL4A5 (ENSCAFG00845020584), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Nova Scotia Duck Tolling Retriever | VHCASEGROUP:omia-1140 | {
"discovery_mask_disease_ids": [
"OMIA:001140-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:6d3fc89cf39b84b61f1e03667bcd826dbdb96a7d364d12dd85857f7fc7d932e1",
"OMIA:001140-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845029722 | case-omia-001140-adamts20 | Cleft lip with or without cleft palate, ADAMTS20-related | {
"excluded": [],
"present": [
"HP:0000175",
"HP:0000202",
"HP:0000324",
"HP:0410030"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,015 | {
"label": "OMIA:001140-9615",
"url": "https://omia.org/OMIA001140/9615/"
} | NCBITaxon:9615 | 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. |
Beagle, Bernese Mountain Dog, Chihuahua | VHCASEGROUP:omia-1208 | {
"discovery_mask_disease_ids": [
"OMIA:001208-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:ec40967c0b7a415a6a54010f3de02ffdaf8ccdda4519c97de0eb6c7cadf5efed",
"OMIA:001208-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845006442 | case-omia-001208-gfap | Alexander disease | {
"excluded": [],
"present": [
"HP:0000707",
"HP:0001336",
"HP:0002073",
"HP:0002878",
"HP:0003202",
"HP:0003700",
"HP:0011951",
"HP:0100320"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,016 | {
"label": "OMIA:001208-9615",
"url": "https://omia.org/OMIA001208/9615/"
} | NCBITaxon:9615 | Alexander disease. Expected gene GFAP (ENSCAFG00845006442), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Briard | VHCASEGROUP:omia-1222 | {
"discovery_mask_disease_ids": [
"OMIA:001222-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:a9b385f6ee7f65eab98fbd5af15edd6c32afc9f18432175fbcc768cdfab9d875",
"OMIA:001222-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845013646 | case-omia-001222-rpe65 | Leber congenital amaurosis | {
"excluded": [],
"present": [
"HP:0000505",
"HP:0000510",
"HP:0000546",
"HP:0000556",
"HP:0000662",
"HP:0001105",
"HP:0001141",
"HP:0007642",
"HP:0007875",
"HP:0012043",
"HP:0100513"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,998 | {
"label": "OMIA:001222-9615",
"url": "https://omia.org/OMIA001222/9615/"
} | NCBITaxon:9615 | Leber congenital amaurosis. Expected gene RPE65 (ENSCAFG00845013646), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Flat-Coated Retriever, Labrador Retriever | VHCASEGROUP:omia-1258 | {
"discovery_mask_disease_ids": [
"OMIA:001258-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:b8645cf2167997b447bbc32dc13ff9380814ba6709ff9cef55d0ec7a85e97f95",
"OMIA:001258-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845025117 | case-omia-001258-adcy3 | Obesity | {
"excluded": [],
"present": [
"HP:0000819",
"HP:0001385",
"HP:0004324"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,016 | {
"label": "OMIA:001258-9615",
"url": "https://omia.org/OMIA001258/9615/"
} | NCBITaxon:9615 | Obesity. Expected gene ADCY3 (ENSCAFG00845025117), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Flat-Coated Retriever, Labrador Retriever | VHCASEGROUP:omia-1258 | {
"discovery_mask_disease_ids": [
"OMIA:001258-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:b3688d167672e6b73a52a4d91e2a07f2b440d7b3779e46d447f0ca22d6784413",
"OMIA:001258-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845000932 | case-omia-001258-dennd1b | Obesity | {
"excluded": [],
"present": [
"HP:0000819",
"HP:0001385",
"HP:0004324"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,016 | {
"label": "OMIA:001258-9615",
"url": "https://omia.org/OMIA001258/9615/"
} | NCBITaxon:9615 | Obesity. Expected gene DENND1B (ENSCAFG00845000932), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Flat-Coated Retriever, Labrador Retriever | VHCASEGROUP:omia-1258 | {
"discovery_mask_disease_ids": [
"OMIA:001258-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:19b6f2c95fdd5568e11b0625c850eb8d253181985e15535c724665c73abef952",
"OMIA:001258-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845026092 | case-omia-001258-pomc | Obesity | {
"excluded": [],
"present": [
"HP:0000819",
"HP:0001385",
"HP:0004324"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,016 | {
"label": "OMIA:001258-9615",
"url": "https://omia.org/OMIA001258/9615/"
} | NCBITaxon:9615 | Obesity. Expected gene POMC (ENSCAFG00845026092), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
American Hairless Terrier, Rat Terrier, Scottish Deerhound | VHCASEGROUP:omia-1279 | {
"discovery_mask_disease_ids": [
"OMIA:001279-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:d8db99d84f1b2c5fe24732a57e6011c8ffd69314d3694c80153e0eca8d5d67b8",
"OMIA:001279-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845019652 | case-omia-001279-sgk3 | Hypotrichosis, recessive | {
"excluded": [],
"present": [
"HP:0000968",
"HP:0001596",
"HP:0008070"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,017 | {
"label": "OMIA:001279-9615",
"url": "https://omia.org/OMIA001279/9615/"
} | NCBITaxon:9615 | Hypotrichosis, recessive. Expected gene SGK3 (ENSCAFG00845019652), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Norwegian Elkhound | VHCASEGROUP:omia-1297 | {
"discovery_mask_disease_ids": [
"OMIA:001297-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:7aa299fbee8b1b1ba1e8e3f527d33a9c074eacacacc31b8ff19e8d7e4c8e35e0",
"OMIA:001297-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845025108 | case-omia-001297-stk38l | Early retinal degeneration | {
"excluded": [],
"present": [
"HP:0000510",
"HP:0000546",
"HP:0000572",
"HP:0000662",
"HP:0001105"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,010 | {
"label": "OMIA:001297-9615",
"url": "https://omia.org/OMIA001297/9615/"
} | NCBITaxon:9615 | Early retinal degeneration. Expected gene STK38L (ENSCAFG00845025108), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
American Cocker Spaniel, American Eskimo Dog, Australian Cattle Dog | VHCASEGROUP:omia-1298 | {
"discovery_mask_disease_ids": [
"OMIA:001298-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:acc6e07aa4e0bfedb857b3506a3d28271f8a2156603106cb54e0e06ce458422f",
"OMIA:001298-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845017103 | case-omia-001298-prcd | Progressive rod-cone degeneration, PRCD-related | {
"excluded": [],
"present": [
"HP:0000505",
"HP:0000546",
"HP:0000572",
"HP:0000662",
"HP:0001105",
"HP:0003002",
"HP:0012047"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,006 | {
"label": "OMIA:001298-9615",
"url": "https://omia.org/OMIA001298/9615/"
} | NCBITaxon:9615 | 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. |
Dachshund, Wire-Haired, Huntaway | VHCASEGROUP:omia-1309 | {
"discovery_mask_disease_ids": [
"OMIA:001309-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:abe2538f301b1ffd7d62e07043fb8799f783944dd7baeed04576a7a9d48325ff",
"OMIA:001309-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845013218 | case-omia-001309-sgsh | Mucopolysaccharidosis IIIA | {
"excluded": [],
"present": [
"HP:0001268",
"HP:0002070",
"HP:0002080",
"HP:0002120",
"HP:0002344",
"HP:0003651",
"HP:0007009",
"HP:6000717"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,000 | {
"label": "OMIA:001309-9615",
"url": "https://omia.org/OMIA001309/9615/"
} | NCBITaxon:9615 | Mucopolysaccharidosis IIIA. Expected gene SGSH (ENSCAFG00845013218), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Miniature Schnauzer | VHCASEGROUP:omia-1311 | {
"discovery_mask_disease_ids": [
"OMIA:001311-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:6260acf89e9973da764a7653311e35d56ffeb567c6f36c7e5746a8dda12e3efc",
"OMIA:001311-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845010701 | case-omia-001311-ppt1 | Photoreceptor dysplasia, PPT1-related | {
"excluded": [],
"present": [
"HP:0000505",
"HP:0000510",
"HP:0000546",
"HP:0001105",
"HP:0030329"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,019 | {
"label": "OMIA:001311-9615",
"url": "https://omia.org/OMIA001311/9615/"
} | NCBITaxon:9615 | 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. |
Cardigan Welsh Corgi, Chinese Crested, Pomeranian | VHCASEGROUP:omia-1314 | {
"discovery_mask_disease_ids": [
"OMIA:001314-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:c4457383e657dc01a657577595aac61bb477da1bb2eb0a2594a8e8b549d30369",
"OMIA:001314-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845008935 | case-omia-001314-pde6a | Retinal atrophy - Rod-cone dysplasia 3, PDE6A-related | {
"excluded": [],
"present": [
"HP:0000510",
"HP:0000546",
"HP:0001105"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 1,999 | {
"label": "OMIA:001314-9615",
"url": "https://omia.org/OMIA001314/9615/"
} | NCBITaxon:9615 | 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. |
Australian Shepherd, Beagle, Bichon Frise | VHCASEGROUP:omia-1335 | {
"discovery_mask_disease_ids": [
"OMIA:001335-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:5872d7a0e0f41d2162877a00268bb49cd9b83c940b7ceb3abc532401db2cb4ed",
"OMIA:001335-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845024691 | case-omia-001335-flcn | Renal cystadenocarcinoma and nodular dermatofibrosis | {
"excluded": [],
"present": [
"HP:0000131",
"HP:0001970",
"HP:0005562",
"HP:0008069",
"HP:0009726"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,003 | {
"label": "OMIA:001335-9615",
"url": "https://omia.org/OMIA001335/9615/"
} | NCBITaxon:9615 | 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. |
Schipperke | VHCASEGROUP:omia-1342 | {
"discovery_mask_disease_ids": [
"OMIA:001342-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:356b624dd2f1dd2d22cc1f906f74dba719621a6b4ed335f6065a521f272aa5a9",
"OMIA:001342-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845008828 | case-omia-001342-naglu | Mucopolysaccharidosis IIIB | {
"excluded": [],
"present": [
"HP:0000546",
"HP:0001268",
"HP:0001272",
"HP:0002070"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,020 | {
"label": "OMIA:001342-9615",
"url": "https://omia.org/OMIA001342/9615/"
} | NCBITaxon:9615 | Mucopolysaccharidosis IIIB. Expected gene NAGLU (ENSCAFG00845008828), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Bull Mastiff, English Mastiff | VHCASEGROUP:omia-1346 | {
"discovery_mask_disease_ids": [
"OMIA:001346-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:6306438c19cd6aff78ee44b2e9c7e2ef399c88c33792a363c8b5d84ec09c9048",
"OMIA:001346-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845027581 | case-omia-001346-rho | Retinal atrophy, progressive, autosomal dominant, RHO-related | {
"excluded": [],
"present": [
"HP:0000510",
"HP:0000572",
"HP:0001105",
"HP:0001878"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,002 | {
"label": "OMIA:001346-9615",
"url": "https://omia.org/OMIA001346/9615/"
} | NCBITaxon:9615 | 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. |
Staffordshire Bull Terrier, West Highland White Terrier, Yorkshire Terrier | VHCASEGROUP:omia-1371 | {
"discovery_mask_disease_ids": [
"OMIA:001371-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:86fedc023b7b371fc5cded22a5ba0eb174d660864114705abc66e68f1578792d",
"OMIA:001371-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845002841 | case-omia-001371-l2hgdh | L-2-hydroxyglutaricacidemia | {
"excluded": [],
"present": [
"HP:0000708",
"HP:0000718",
"HP:0040144"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,007 | {
"label": "OMIA:001371-9615",
"url": "https://omia.org/OMIA001371/9615/"
} | NCBITaxon:9615 | L-2-hydroxyglutaricacidemia. Expected gene L2HGDH (ENSCAFG00845002841), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Greyhound, Labrador Retriever | VHCASEGROUP:omia-1373 | {
"discovery_mask_disease_ids": [
"OMIA:001373-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:95f25903bbcc8a97d6be461c29b15918708454678e1514968310431ec6a1d877",
"OMIA:001373-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845014927 | case-omia-001373-suv39h2 | Nasal parakeratosis | {
"excluded": [],
"present": [
"HP:0001051",
"HP:0007417",
"HP:0040009"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,013 | {
"label": "OMIA:001373-9615",
"url": "https://omia.org/OMIA001373/9615/"
} | NCBITaxon:9615 | Nasal parakeratosis. Expected gene SUV39H2 (ENSCAFG00845014927), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Labrador Retriever | VHCASEGROUP:omia-1374 | {
"discovery_mask_disease_ids": [
"OMIA:001374-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:b13a3fe19e92eb84910e6d7fe3f90f232ec7cf4a28937332b56d2bb95d535077",
"OMIA:001374-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845013804 | case-omia-001374-hacd1 | Centronuclear myopathy, HACD1-related | {
"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"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,005 | {
"label": "OMIA:001374-9615",
"url": "https://omia.org/OMIA001374/9615/"
} | NCBITaxon:9615 | 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. |
Australian Shepherd, Border Collie, Collie | VHCASEGROUP:omia-1402 | {
"discovery_mask_disease_ids": [
"OMIA:001402-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:f8321ed879d7205639d8c041943c2fb907cf5f12ab69eb68a6915d120ab1234d",
"OMIA:001402-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845007972 | case-omia-001402-abcb1 | Multidrug resistance 1, ABCB1-related | {
"excluded": [],
"present": [
"HP:0000510",
"HP:0000707",
"HP:0001105",
"HP:0001288",
"HP:0002133",
"HP:0003376",
"HP:0020174"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,001 | {
"label": "OMIA:001402-9615",
"url": "https://omia.org/OMIA001402/9615/"
} | NCBITaxon:9615 | 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. |
Clumber Spaniel, Sussex Spaniel | VHCASEGROUP:omia-1406 | {
"discovery_mask_disease_ids": [
"OMIA:001406-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:d82ccffa1c1dc1ddcccd7684287affbef495403668f60c32e33adc2f113febcc",
"OMIA:001406-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845014567 | case-omia-001406-pdp1 | Pyruvate dehydrogenase deficiency | {
"excluded": [],
"present": [
"HP:0003128",
"HP:0003546",
"HP:0003737"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,007 | {
"label": "OMIA:001406-9615",
"url": "https://omia.org/OMIA001406/9615/"
} | NCBITaxon:9615 | Pyruvate dehydrogenase deficiency. Expected gene PDP1 (ENSCAFG00845014567), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Border Collie, Huntaway, New Zealand Heading Dog | VHCASEGROUP:omia-1428 | {
"discovery_mask_disease_ids": [
"OMIA:001428-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:b006511830b004d83be32c4c853f8a959a47aa2134dc3b77950447cb70af719d",
"OMIA:001428-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845025516 | case-omia-001428-vps13b | Trapped Neutrophil Syndrome | {
"excluded": [],
"present": [
"HP:0001249",
"HP:0001288",
"HP:0001386",
"HP:0001508",
"HP:0001875",
"HP:0002718",
"HP:0002719",
"HP:0003095",
"HP:0031020",
"HP:0040289",
"HP:0410252"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,011 | {
"label": "OMIA:001428-9615",
"url": "https://omia.org/OMIA001428/9615/"
} | NCBITaxon:9615 | Trapped Neutrophil Syndrome. Expected gene VPS13B (ENSCAFG00845025516), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Dachshund, Miniature Long-Haired, English Springer Spaniel | VHCASEGROUP:omia-1432 | {
"discovery_mask_disease_ids": [
"OMIA:001432-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:c05e4a1f768c6c16061a108b14496f5f239d63118b71084d29b0df2b7a6469c5",
"OMIA:001432-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845010211 | case-omia-001432-map9 | Retinal atrophy - Cone-rod dystrophy 4 | {
"excluded": [],
"present": [
"HP:0000510",
"HP:0000546",
"HP:0000548",
"HP:0000648",
"HP:0001105",
"HP:0007875",
"HP:0012019"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,006 | {
"label": "OMIA:001432-9615",
"url": "https://omia.org/OMIA001432/9615/"
} | NCBITaxon:9615 | 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. |
Dachshund, Miniature Long-Haired, English Springer Spaniel | VHCASEGROUP:omia-1432 | {
"discovery_mask_disease_ids": [
"OMIA:001432-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:3d805352e58968583a1ce460b079bcfd0b23fcc1d5d34001032a6c124deed4e6",
"OMIA:001432-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845025061 | case-omia-001432-rpgrip1 | Retinal atrophy - Cone-rod dystrophy 4 | {
"excluded": [],
"present": [
"HP:0000510",
"HP:0000546",
"HP:0000548",
"HP:0000648",
"HP:0001105",
"HP:0007875",
"HP:0012019"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,006 | {
"label": "OMIA:001432-9615",
"url": "https://omia.org/OMIA001432/9615/"
} | NCBITaxon:9615 | 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. |
Australian Shepherd, Schapendoes | VHCASEGROUP:omia-1443 | {
"discovery_mask_disease_ids": [
"OMIA:001443-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:92dfbdc7bcbe50c9e7b7d7fc264afe7ca318268877385fac860c088c1433d86f",
"OMIA:001443-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845018935 | case-omia-001443-cln6 | Neuronal ceroid lipofuscinosis, 6 | {
"excluded": [],
"present": [
"HP:0000505",
"HP:0002283",
"HP:0012444",
"HP:0100543"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,011 | {
"label": "OMIA:001443-9615",
"url": "https://omia.org/OMIA001443/9615/"
} | NCBITaxon:9615 | 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. |
Dachshund, Miniature Wire-Haired, Dachshund, Standard Wire-Haired | VHCASEGROUP:omia-1455 | {
"discovery_mask_disease_ids": [
"OMIA:001455-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:26fba41e9e1a1fd19207454a75249c596d096fe95c73edb046a291a8aede6c09",
"OMIA:001455-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845021358 | case-omia-001455-nphp4 | Retinal atrophy - Cone-rod dystrophy, NPHP4-related | {
"excluded": [],
"present": [
"HP:0000548",
"HP:0001105",
"HP:0012047"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,008 | {
"label": "OMIA:001455-9615",
"url": "https://omia.org/OMIA001455/9615/"
} | NCBITaxon:9615 | 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. |
Border Collie, Boykin Spaniel, Chesapeake Bay Retriever | VHCASEGROUP:omia-1466 | {
"discovery_mask_disease_ids": [
"OMIA:001466-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:698be0ef5fb47ddaee65b7aa3db8a8eff5c7cdf5adfe3193a6bc64c8c05ec42f",
"OMIA:001466-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845029334 | case-omia-001466-dnm1 | Exercise-induced collapse | {
"excluded": [],
"present": [
"HP:0001252",
"HP:0001288",
"HP:0001324",
"HP:0001950",
"HP:0003546",
"HP:0007185",
"HP:0011703"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,008 | {
"label": "OMIA:001466-9615",
"url": "https://omia.org/OMIA001466/9615/"
} | NCBITaxon:9615 | Exercise-induced collapse. Expected gene DNM1 (ENSCAFG00845029334), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Chinese Crested, Ibizan Hound, Kerry Blue Terrier | VHCASEGROUP:omia-1468 | {
"discovery_mask_disease_ids": [
"OMIA:001468-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:ccea39a9a9e54be761f12b1f7710abc143fe05f1c7ce5c10cbc8608a9afe2828",
"OMIA:001468-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845001134 | case-omia-001468-serac1 | Multiple system degeneration, SERAC1-related | {
"excluded": [],
"present": [
"HP:0000164",
"HP:0000968",
"HP:0001251",
"HP:0001272",
"HP:0002059",
"HP:0002080",
"HP:0002529",
"HP:0003535",
"HP:0008070",
"HP:0008303",
"HP:0100022"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,013 | {
"label": "OMIA:001468-9615",
"url": "https://omia.org/OMIA001468/9615/"
} | NCBITaxon:9615 | 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. |
Poodle, Standard | VHCASEGROUP:omia-1471 | {
"discovery_mask_disease_ids": [
"OMIA:001471-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:b63cd321dba18ec737dd16b4498c3b5801644f49e2f5fc0016e1623327f1e1c4",
"OMIA:001471-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845017708 | case-omia-001471-atf2 | Neonatal encephalopathy with seizures, ATF2-related | {
"excluded": [],
"present": [
"HP:0001324",
"HP:0002119",
"HP:0002539",
"HP:0003327",
"HP:0200134"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,008 | {
"label": "OMIA:001471-9615",
"url": "https://omia.org/OMIA001471/9615/"
} | NCBITaxon:9615 | 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. |
Dachshund | VHCASEGROUP:omia-1472 | {
"discovery_mask_disease_ids": [
"OMIA:001472-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:c0ae8bc930b48ae016139d906451ab536aaea97549aa9a191499f12a83ad3d56",
"OMIA:001472-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845008889 | case-omia-001472-tpp1 | Neuronal ceroid lipofuscinosis, 2 | {
"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"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,006 | {
"label": "OMIA:001472-9615",
"url": "https://omia.org/OMIA001472/9615/"
} | NCBITaxon:9615 | 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. |
Brussels Griffon, Chihuahua, Petit Brabancon | VHCASEGROUP:omia-1473 | {
"discovery_mask_disease_ids": [
"OMIA:001473-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:7d86125a213427bf6249c622796dfbe08d2bb2242198be1dfebe317232ae0120",
"OMIA:001473-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845021230 | case-omia-001473-gh1 | Dwarfism, growth-hormone deficiency | {
"excluded": [],
"present": [
"HP:0000270",
"HP:0000824",
"HP:0006335",
"HP:0030353"
]
} | {
"mode_1_is_circular": false,
"phenotype_source": "omia-structured"
} | 2,020 | {
"label": "OMIA:001473-9615",
"url": "https://omia.org/OMIA001473/9615/"
} | NCBITaxon:9615 | Dwarfism, growth-hormone deficiency. Expected gene GH1 (ENSCAFG00845021230), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations. |
German Shepherd Dog, Labrador Retriever | VHCASEGROUP:omia-1481 | {
"discovery_mask_disease_ids": [
"OMIA:001481-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:938ba18c8dbf467dc636daca1807ebf3125f6dccfecf1aef9a350aaeb9306108",
"OMIA:001481-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845020028 | case-omia-001481-cnga3 | Achromatopsia-2, CNGA3-related | {
"excluded": [],
"present": [
"HP:0001141",
"HP:0007641",
"HP:0007663"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,015 | {
"label": "OMIA:001481-9615",
"url": "https://omia.org/OMIA001481/9615/"
} | NCBITaxon:9615 | 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. |
Australian Cattle Dog, Border Collie, Golden Retriever | VHCASEGROUP:omia-1482 | {
"discovery_mask_disease_ids": [
"OMIA:001482-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:d72ffb3fce2ee534f9e29c1365a9f924dd3f6ef260b0936ade000065350ffc17",
"OMIA:001482-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845026181 | case-omia-001482-cln5 | Neuronal ceroid lipofuscinosis, 5 | {
"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... | {
"mode_1_is_circular": false,
"phenotype_source": "omia-structured"
} | 2,005 | {
"label": "OMIA:001482-9615",
"url": "https://omia.org/OMIA001482/9615/"
} | NCBITaxon:9615 | Neuronal ceroid lipofuscinosis, 5. Expected gene CLN5 (ENSCAFG00845026181), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations. |
Dachshund | VHCASEGROUP:omia-1483 | {
"discovery_mask_disease_ids": [
"OMIA:001483-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:ad813e0fce78685655026413c826a9bcb0e476e619b70a4835f600bcc303c05c",
"OMIA:001483-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845011365 | case-omia-001483-serpinh1 | Osteogenesis imperfecta, SERPINH1-related | {
"excluded": [],
"present": [
"HP:0000703",
"HP:0000938",
"HP:0001382",
"HP:0001730",
"HP:0002659",
"HP:0002757"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,009 | {
"label": "OMIA:001483-9615",
"url": "https://omia.org/OMIA001483/9615/"
} | NCBITaxon:9615 | 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. |
Dalmatian, Dogo Argentino | VHCASEGROUP:omia-1485 | {
"discovery_mask_disease_ids": [
"OMIA:001485-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:ecb8b2db0e1f71a2135b2a6cdd1120144c1828dea879265fdf8a9b6e10ccbf8d",
"OMIA:001485-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845018088 | case-omia-001485-prkg2 | Dwarfism, PRKG2-related | {
"excluded": [],
"present": [
"HP:0001288",
"HP:0002652",
"HP:0004322",
"HP:0006385"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,021 | {
"label": "OMIA:001485-9615",
"url": "https://omia.org/OMIA001485/9615/"
} | NCBITaxon:9615 | Dwarfism, PRKG2-related. Expected gene PRKG2 (ENSCAFG00845018088), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Beagle | VHCASEGROUP:omia-1486 | {
"discovery_mask_disease_ids": [
"OMIA:001486-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:6be9e4c2268f9070e2ba61502006ba57ad31953d853f252f3721413abde22b70",
"OMIA:001486-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845030077 | case-omia-001486-lrit3 | Night blindness, congenital stationary, LRIT3-related | {
"excluded": [],
"present": [
"HP:0000505",
"HP:0000662",
"HP:0007642"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,019 | {
"label": "OMIA:001486-9615",
"url": "https://omia.org/OMIA001486/9615/"
} | NCBITaxon:9615 | 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. |
American Staffordshire Terrier | VHCASEGROUP:omia-1503 | {
"discovery_mask_disease_ids": [
"OMIA:001503-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:c00c3207079fb5a2538582d6790befa318bb161f0007418a8744e81cada6538e",
"OMIA:001503-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845029010 | case-omia-001503-arsg | Lysosomal storage disease, ARSG related | {
"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"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,010 | {
"label": "OMIA:001503-9615",
"url": "https://omia.org/OMIA001503/9615/"
} | NCBITaxon:9615 | 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. |
Dachshund, Italian Cane Corso | VHCASEGROUP:omia-1504 | {
"discovery_mask_disease_ids": [
"OMIA:001504-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:c5e8e2f256d1dee5b35c4dcc3e2f32847735b14fbe6967bc04f01adbe3427c8c",
"OMIA:001504-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845010701 | case-omia-001504-ppt1 | Neuronal ceroid lipofuscinosis, 1 | {
"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... | {
"mode_1_is_circular": false,
"phenotype_source": "omia-structured"
} | 2,010 | {
"label": "OMIA:001504-9615",
"url": "https://omia.org/OMIA001504/9615/"
} | NCBITaxon:9615 | Neuronal ceroid lipofuscinosis, 1. Expected gene PPT1 (ENSCAFG00845010701), corroborated by both crosswalk providers. Phenotypes are OMIA structured annotations. |
Alpine Dachsbracke, Australian Shepherd, English Setter | VHCASEGROUP:omia-1506 | {
"discovery_mask_disease_ids": [
"OMIA:001506-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:c0bb6e8f87bc416291eb1124518d8390d95be589a3678b937d0a57be4b1bb715",
"OMIA:001506-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845019093 | case-omia-001506-cln8 | Neuronal ceroid lipofuscinosis, 8 | {
"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"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,005 | {
"label": "OMIA:001506-9615",
"url": "https://omia.org/OMIA001506/9615/"
} | NCBITaxon:9615 | 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. |
Boykin Spaniel, Labrador Retriever, Rottweiler | VHCASEGROUP:omia-1508 | {
"discovery_mask_disease_ids": [
"OMIA:001508-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:92841ce3526afd2919714cc999404f282eef6c819c60bc79162cb47d0fbf5efd",
"OMIA:001508-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845023123 | case-omia-001508-mtm1 | Myotubular myopathy 1 | {
"excluded": [],
"present": [
"HP:0001324",
"HP:0002878",
"HP:0003202",
"HP:0003324",
"HP:0003736"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,010 | {
"label": "OMIA:001508-9615",
"url": "https://omia.org/OMIA001508/9615/"
} | NCBITaxon:9615 | Myotubular myopathy 1. Expected gene MTM1 (ENSCAFG00845023123), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Beagle | VHCASEGROUP:omia-1509 | {
"discovery_mask_disease_ids": [
"OMIA:001509-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:eb6ae13e5fc05fd7b327039b4a29edb8cb48c64e525149a43c802d1cc5738d0e",
"OMIA:001509-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845010741 | case-omia-001509-adamtsl2 | Geleophysic dysplasia, ADMATSL2-related | {
"excluded": [],
"present": [
"HP:0000028",
"HP:0001387",
"HP:0004322",
"HP:0030051",
"HP:0030053",
"HP:0031295"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,010 | {
"label": "OMIA:001509-9615",
"url": "https://omia.org/OMIA001509/9615/"
} | NCBITaxon:9615 | 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. |
Beagle, Scottish Terrier, Shetland Sheepdog | VHCASEGROUP:omia-1512 | {
"discovery_mask_disease_ids": [
"OMIA:001512-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:a2fdb7fa5c44ee4e04092c99fe0f81b8cb493dc668d19a406b0b09ca2ba66bcc",
"OMIA:001512-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845031038 | case-omia-001512-braf | Transitional cell carcinoma | {
"excluded": [],
"present": [
"HP:0002860",
"HP:0006740",
"HP:0009725",
"HP:0010474",
"HP:0012125",
"HP:0020174",
"HP:0100515"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,015 | {
"label": "OMIA:001512-9615",
"url": "https://omia.org/OMIA001512/9615/"
} | NCBITaxon:9615 | Transitional cell carcinoma. Expected gene BRAF (ENSCAFG00845031038), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Beagle, Scottish Terrier, Shetland Sheepdog | VHCASEGROUP:omia-1512 | {
"discovery_mask_disease_ids": [
"OMIA:001512-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:69a9f52bbe723522be0084c71ece9baf8e6ba8b4a9441447388ebf053d9247a8",
"OMIA:001512-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845015371 | case-omia-001512-map2k1 | Transitional cell carcinoma | {
"excluded": [],
"present": [
"HP:0002860",
"HP:0006740",
"HP:0009725",
"HP:0010474",
"HP:0012125",
"HP:0020174",
"HP:0100515"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,015 | {
"label": "OMIA:001512-9615",
"url": "https://omia.org/OMIA001512/9615/"
} | NCBITaxon:9615 | Transitional cell carcinoma. Expected gene MAP2K1 (ENSCAFG00845015371), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Beagle, Scottish Terrier, Shetland Sheepdog | VHCASEGROUP:omia-1512 | {
"discovery_mask_disease_ids": [
"OMIA:001512-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:e02332492eb70740f7159adbcf8d826e8aeca57d884461705ba4000faea2cc20",
"OMIA:001512-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845009684 | case-omia-001512-nipal1 | Transitional cell carcinoma | {
"excluded": [],
"present": [
"HP:0002860",
"HP:0006740",
"HP:0009725",
"HP:0010474",
"HP:0012125",
"HP:0020174",
"HP:0100515"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,015 | {
"label": "OMIA:001512-9615",
"url": "https://omia.org/OMIA001512/9615/"
} | NCBITaxon:9615 | Transitional cell carcinoma. Expected gene NIPAL1 (ENSCAFG00845009684), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Portuguese Water Dog, Schapendoes | VHCASEGROUP:omia-1521 | {
"discovery_mask_disease_ids": [
"OMIA:001521-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:7b573862a89dcd08e0ec6118a56351e0b9d00e0b0423ffdf2622f02a6fab257a",
"OMIA:001521-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845024810 | case-omia-001521-ccdc66 | Retinal atrophy, progressive, CCDC66-related | {
"excluded": [],
"present": [
"HP:0000505",
"HP:0000529",
"HP:0000543",
"HP:0000572",
"HP:0000662",
"HP:0001105"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,010 | {
"label": "OMIA:001521-9615",
"url": "https://omia.org/OMIA001521/9615/"
} | NCBITaxon:9615 | 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. |
Labrador Retriever, Northern Inuit Dog | VHCASEGROUP:omia-1522 | {
"discovery_mask_disease_ids": [
"OMIA:001522-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:7f3fcbd9cea3e49fbb8333da8a6146f93752f25b71832eead45849b7af509843",
"OMIA:001522-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845018010 | case-omia-001522-col9a3 | Oculoskeletal dysplasia 1 | {
"excluded": [],
"present": [
"HP:0000541",
"HP:0000924",
"HP:0001263",
"HP:0001385",
"HP:0001510",
"HP:0002652",
"HP:0002984",
"HP:0007968",
"HP:0008873",
"HP:0030832",
"HP:0100719"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,010 | {
"label": "OMIA:001522-9615",
"url": "https://omia.org/OMIA001522/9615/"
} | NCBITaxon:9615 | Oculoskeletal dysplasia 1. Expected gene COL9A3 (ENSCAFG00845018010), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Samoyed | VHCASEGROUP:omia-1523 | {
"discovery_mask_disease_ids": [
"OMIA:001523-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:0b806b992b28a08e95f89106be3edde7f1bf1d4ce9c3955fe8a6863465364ea9",
"OMIA:001523-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845010158 | case-omia-001523-col9a2 | Oculoskeletal dysplasia 2 | {
"excluded": [],
"present": [
"HP:0000541",
"HP:0001510",
"HP:0002652",
"HP:0002984",
"HP:0004322",
"HP:0008873"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,010 | {
"label": "OMIA:001523-9615",
"url": "https://omia.org/OMIA001523/9615/"
} | NCBITaxon:9615 | Oculoskeletal dysplasia 2. Expected gene COL9A2 (ENSCAFG00845010158), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Cairn Terrier, Cocker Spaniel, Miniature Schnauzer | VHCASEGROUP:omia-1524 | {
"discovery_mask_disease_ids": [
"OMIA:001524-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:bfda8930c651a47d108ea3947856700372efc18be9ad6f22aba59144a3e5e2b0",
"OMIA:001524-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845007730 | case-omia-001524-abcb4 | Gallbladder mucoceles | {
"excluded": [],
"present": [
"HP:0000083",
"HP:0001919",
"HP:0002027",
"HP:0002910",
"HP:0003270"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,010 | {
"label": "OMIA:001524-9615",
"url": "https://omia.org/OMIA001524/9615/"
} | NCBITaxon:9615 | Gallbladder mucoceles. Expected gene ABCB4 (ENSCAFG00845007730), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
Old English Sheepdog | VHCASEGROUP:omia-1540 | {
"discovery_mask_disease_ids": [
"OMIA:001540-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:192b094437aafe8408938553b09016d38df756de92db488e1b612d304147a40c",
"OMIA:001540-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845018860 | case-omia-001540-ccdc39 | Ciliary dyskinesia, primary, CCDC39-related | {
"excluded": [],
"present": [
"HP:0002257",
"HP:0002719",
"HP:0012265",
"HP:0031417"
]
} | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,011 | {
"label": "OMIA:001540-9615",
"url": "https://omia.org/OMIA001540/9615/"
} | NCBITaxon:9615 | 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. |
not stated | VHCASEGROUP:omia-1551 | {
"discovery_mask_disease_ids": [
"OMIA:001551-9615"
],
"discovery_mask_evidence_ids": [
"OMIA-EVID:b14f7b3929710a1a349924c78c26b592e177036f5f4b680fe31f94632b5f4484",
"OMIA:001551-9615"
],
"temporal_status": "requires-historical-snapshot"
} | ENSCAFG00845020074 | case-omia-001551-dvl2 | Brachycephaly | {
"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... | {
"mode_1_is_circular": true,
"phenotype_source": "curated-from-omia-text"
} | 2,012 | {
"label": "OMIA:001551-9615",
"url": "https://omia.org/OMIA001551/9615/"
} | NCBITaxon:9615 | Brachycephaly. Expected gene DVL2 (ENSCAFG00845020074), corroborated by both crosswalk providers. Phenotypes were curated from OMIA clinical text and are pending expert review. |
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