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. |
End of preview. Expand in Data Studio
VariantHound Research Snapshot
VariantHound is an explainable, phenotype-aware research system for ranking candidate genes in canine inherited disease. This dataset repository contains the compact, redistributable artifacts generated from the public VariantHound source repository.
Research and educational use only. This snapshot is not a diagnostic dataset or medical device, and its rankings require expert review and experimental validation.
Current contents
The release contains:
- three literature-grounded canine benchmark cases;
- source and orthology provenance manifests;
- a checksum-pinned Ensembl 116 dog-human-mouse orthology snapshot in releases built by the publication workflow;
- a checksum pin for HPO 2026-09-01 and its matching human annotations, plus normalized JSONL in publication-workflow releases;
- a dated Monarch 2026-09-02 evidence snapshot with a checksum-pinned HGNC stable-ID crosswalk;
- a direct, retrieval-dated MGI genotype/phenotype snapshot with reconciled stable gene IDs;
- a processed canine OMIA snapshot with phenes, stable-ID gene evidence, causal variants, breeds, and publications;
- a compact PHENIO HP/MP/uPheno semantic-similarity closure with upstream ontology versions;
- content-addressed browser shards for terms, phenotype closure, stable-ID gene profiles, and orthology;
- machine-readable schemas for the published contracts;
- evaluation, data, orthology, HPO, Monarch, MGI, OMIA, and PHENIO documentation;
- a release manifest containing the source Git commit, byte sizes, and SHA-256 checksums.
data/benchmark_cases.jsonl is the viewer-friendly benchmark split. HPO and OMIA are published as normalized JSONL under their source directories; raw upstream assets are not mirrored. The snapshot does not include raw OMIA, Monarch, MGI, Ensembl, or Dog10K database exports.
Evaluation safety
The benchmark metadata defines direct evidence and disease masks for discovery simulation. Temporal evaluation is allowed only when a historical source snapshot predating the case publication has been independently materialized. Known-evidence retrieval results must not be reported as discovery performance.
Orthology status
The publication workflow materializes 41,504 Ensembl 116 protein-tree orthology edges: 20,279 dog-human and 21,225 dog-mouse links. It unions the dog, human, and mouse genome-specific exports because Ensembl partitions pairwise rows arbitrarily between those files. Every artifact is checked against its pinned byte count, official MD5, and SHA-256 before transformation. One-to-many and many-to-many relationships are retained and explicitly marked ambiguous.
HPO status
The publication workflow verifies three immutable GitHub release assets before materializing 20,482 ontology terms, 333,983 human gene-phenotype annotations, and 286,651 disease-phenotype annotations. Negated disease annotations remain explicit. The snapshot is marked current-snapshot-only and cannot be used as a historical temporal-evaluation source.
Monarch status
The dated Monarch KG subsets materialize 6,965 deduplicated human gene-disease associations and 296,123 mouse gene-phenotype associations. Human HGNC IDs are resolved through a separately pinned HGNC export: 4,799 of 4,800 genes have Ensembl IDs and all 4,800 have a stable NCBI or Ensembl join ID. Primary and aggregator provenance are retained so MGI-derived rows cannot be double-counted when direct MGI data is added.
Direct MGI status
The direct MGI snapshot contains 15,317 MP terms and 283,119 genotype-phenotype rows. Identifier reconciliation makes 276,606 rows rank-eligible. It retains but excludes 26 rows affected by conflicting NCBI mappings and 6,487 rows whose markers lack stable join IDs. Direct MGI and Monarch's MGI-derived view must be deduplicated by provenance before scoring.
OMIA status
The retrieval-dated canine transform contains 1,019 phenes, 435 gene-phene edges, and 594 variants linked to single-locus traits. OMIA internal gene IDs are resolved only through the separately pinned official export: 430 gene-phene rows and 591 variant rows are rank-eligible, while unresolved mappings remain available for audit. Each evidence row includes deterministic discovery mask IDs. Because OMIA provides a moving dump rather than historical releases, this snapshot is restricted to current-snapshot evaluation.
PHENIO status
The pinned PHENIO v2026-09-01 transform scans 82,128,289 materialized relations and retains 3,972,487 entailed reflexive subclass rows for 20,413 HPO, 15,317 MP, and 54,198 uPheno terms. This compact closure preserves the cross-species paths needed by deterministic semantic similarity while excluding unrelated integrated relations. The full upstream graph is not mirrored.
Reproducibility
Every uploaded release is built by pipelines/build_hf_release.py. Verify release-manifest.json before using the data. The manifest records every payload file and its SHA-256 digest.
Licensing and attribution
Original VariantHound code and documentation are Apache-2.0. Benchmark facts and future processed tables retain their upstream sources' terms and attribution requirements, so the aggregate dataset uses license: other. See docs/DATA.md, the per-case references, and the source manifest before redistribution or publication.
OMIA data should cite DOI 10.25910/2AMR-PV70 and acknowledge the Sydney Informatics Hub. OMIA asks users to contact its team about publications that rely on the MySQL dump or extended data.
Known limitations
- Three demonstration cases are not an adequate performance benchmark.
- The ontology vocabulary in the demo is intentionally compact and includes internal
VH:*terms. - Canonical gene symbols are not present in the Compara bulk export and remain null until a separately pinned identifier-enrichment source is applied; stable Ensembl gene IDs are the join keys.
- A learned ranking model is not supported by the current sample size.
See DATA_CONTRACT.md for the package layout and field-level expectations.
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