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jason1966
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ahsanneural_rare-diseases-orphadata-2026

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The dataset generation failed because of a cast error

Error code:   DatasetGenerationCastError
Exception:    DatasetGenerationCastError
Message:      An error occurred while generating the dataset

All the data files must have the same columns, but at some point there are 4 new columns ({'AssociationStatus', 'GeneSymbol', 'AssociationType', 'GeneName'}) and 13 missing columns ({'MedDRA', 'MeSH', 'ICD-11', 'TypeOfInheritance', 'UMLS', 'OMIM', 'AgeOfOnset', 'Name', 'ICD-10', 'DisorderType', 'GARD', 'DisorderGroup', 'MONDO'}).

This happened while the csv dataset builder was generating data using

hf://datasets/jason1966/ahsanneural_rare-diseases-orphadata-2026/rare_diseases_genes.csv (at revision 00378a2705422b69d27c43933ec0a65be4c694fb), [/tmp/hf-datasets-cache/medium/datasets/78545617172561-config-parquet-and-info-jason1966-ahsanneural_rar-98d6a639/hub/datasets--jason1966--ahsanneural_rare-diseases-orphadata-2026/snapshots/00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_complete.csv (origin=hf://datasets/jason1966/ahsanneural_rare-diseases-orphadata-2026@00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_complete.csv), /tmp/hf-datasets-cache/medium/datasets/78545617172561-config-parquet-and-info-jason1966-ahsanneural_rar-98d6a639/hub/datasets--jason1966--ahsanneural_rare-diseases-orphadata-2026/snapshots/00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_genes.csv (origin=hf://datasets/jason1966/ahsanneural_rare-diseases-orphadata-2026@00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_genes.csv), /tmp/hf-datasets-cache/medium/datasets/78545617172561-config-parquet-and-info-jason1966-ahsanneural_rar-98d6a639/hub/datasets--jason1966--ahsanneural_rare-diseases-orphadata-2026/snapshots/00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_info.csv (origin=hf://datasets/jason1966/ahsanneural_rare-diseases-orphadata-2026@00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_info.csv), /tmp/hf-datasets-cache/medium/datasets/78545617172561-config-parquet-and-info-jason1966-ahsanneural_rar-98d6a639/hub/datasets--jason1966--ahsanneural_rare-diseases-orphadata-2026/snapshots/00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_natural_history.csv (origin=hf://datasets/jason1966/ahsanneural_rare-diseases-orphadata-2026@00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_natural_history.csv), /tmp/hf-datasets-cache/medium/datasets/78545617172561-config-parquet-and-info-jason1966-ahsanneural_rar-98d6a639/hub/datasets--jason1966--ahsanneural_rare-diseases-orphadata-2026/snapshots/00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_prevalence.csv (origin=hf://datasets/jason1966/ahsanneural_rare-diseases-orphadata-2026@00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_prevalence.csv)]

Please either edit the data files to have matching columns, or separate them into different configurations (see docs at https://hf.co/docs/hub/datasets-manual-configuration#multiple-configurations)
Traceback:    Traceback (most recent call last):
                File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1890, in _prepare_split_single
                  writer.write_table(table)
                File "/usr/local/lib/python3.12/site-packages/datasets/arrow_writer.py", line 760, in write_table
                  pa_table = table_cast(pa_table, self._schema)
                             ^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
                File "/usr/local/lib/python3.12/site-packages/datasets/table.py", line 2272, in table_cast
                  return cast_table_to_schema(table, schema)
                         ^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
                File "/usr/local/lib/python3.12/site-packages/datasets/table.py", line 2218, in cast_table_to_schema
                  raise CastError(
              datasets.table.CastError: Couldn't cast
              OrphaCode: int64
              DiseaseName: string
              GeneSymbol: string
              GeneName: string
              AssociationType: string
              AssociationStatus: string
              -- schema metadata --
              pandas: '{"index_columns": [{"kind": "range", "name": null, "start": 0, "' + 999
              to
              {'OrphaCode': Value('int64'), 'Name': Value('string'), 'DisorderType': Value('string'), 'DisorderGroup': Value('string'), 'ICD-11': Value('string'), 'MONDO': Value('float64'), 'ICD-10': Value('string'), 'OMIM': Value('float64'), 'UMLS': Value('string'), 'MeSH': Value('string'), 'MedDRA': Value('float64'), 'GARD': Value('float64'), 'DiseaseName': Value('string'), 'AgeOfOnset': Value('string'), 'TypeOfInheritance': Value('string')}
              because column names don't match
              
              During handling of the above exception, another exception occurred:
              
              Traceback (most recent call last):
                File "/src/services/worker/src/worker/job_runners/config/parquet_and_info.py", line 1347, in compute_config_parquet_and_info_response
                  parquet_operations = convert_to_parquet(builder)
                                       ^^^^^^^^^^^^^^^^^^^^^^^^^^^
                File "/src/services/worker/src/worker/job_runners/config/parquet_and_info.py", line 980, in convert_to_parquet
                  builder.download_and_prepare(
                File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 884, in download_and_prepare
                  self._download_and_prepare(
                File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 947, in _download_and_prepare
                  self._prepare_split(split_generator, **prepare_split_kwargs)
                File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1739, in _prepare_split
                  for job_id, done, content in self._prepare_split_single(
                                               ^^^^^^^^^^^^^^^^^^^^^^^^^^^
                File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1892, in _prepare_split_single
                  raise DatasetGenerationCastError.from_cast_error(
              datasets.exceptions.DatasetGenerationCastError: An error occurred while generating the dataset
              
              All the data files must have the same columns, but at some point there are 4 new columns ({'AssociationStatus', 'GeneSymbol', 'AssociationType', 'GeneName'}) and 13 missing columns ({'MedDRA', 'MeSH', 'ICD-11', 'TypeOfInheritance', 'UMLS', 'OMIM', 'AgeOfOnset', 'Name', 'ICD-10', 'DisorderType', 'GARD', 'DisorderGroup', 'MONDO'}).
              
              This happened while the csv dataset builder was generating data using
              
              hf://datasets/jason1966/ahsanneural_rare-diseases-orphadata-2026/rare_diseases_genes.csv (at revision 00378a2705422b69d27c43933ec0a65be4c694fb), [/tmp/hf-datasets-cache/medium/datasets/78545617172561-config-parquet-and-info-jason1966-ahsanneural_rar-98d6a639/hub/datasets--jason1966--ahsanneural_rare-diseases-orphadata-2026/snapshots/00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_complete.csv (origin=hf://datasets/jason1966/ahsanneural_rare-diseases-orphadata-2026@00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_complete.csv), /tmp/hf-datasets-cache/medium/datasets/78545617172561-config-parquet-and-info-jason1966-ahsanneural_rar-98d6a639/hub/datasets--jason1966--ahsanneural_rare-diseases-orphadata-2026/snapshots/00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_genes.csv (origin=hf://datasets/jason1966/ahsanneural_rare-diseases-orphadata-2026@00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_genes.csv), /tmp/hf-datasets-cache/medium/datasets/78545617172561-config-parquet-and-info-jason1966-ahsanneural_rar-98d6a639/hub/datasets--jason1966--ahsanneural_rare-diseases-orphadata-2026/snapshots/00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_info.csv (origin=hf://datasets/jason1966/ahsanneural_rare-diseases-orphadata-2026@00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_info.csv), /tmp/hf-datasets-cache/medium/datasets/78545617172561-config-parquet-and-info-jason1966-ahsanneural_rar-98d6a639/hub/datasets--jason1966--ahsanneural_rare-diseases-orphadata-2026/snapshots/00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_natural_history.csv (origin=hf://datasets/jason1966/ahsanneural_rare-diseases-orphadata-2026@00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_natural_history.csv), /tmp/hf-datasets-cache/medium/datasets/78545617172561-config-parquet-and-info-jason1966-ahsanneural_rar-98d6a639/hub/datasets--jason1966--ahsanneural_rare-diseases-orphadata-2026/snapshots/00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_prevalence.csv (origin=hf://datasets/jason1966/ahsanneural_rare-diseases-orphadata-2026@00378a2705422b69d27c43933ec0a65be4c694fb/rare_diseases_prevalence.csv)]
              
              Please either edit the data files to have matching columns, or separate them into different configurations (see docs at https://hf.co/docs/hub/datasets-manual-configuration#multiple-configurations)

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OrphaCode int64	Name string	DisorderType string	DisorderGroup string	ICD-11 string	MONDO float64	ICD-10 string	OMIM float64	UMLS string	MeSH string	MedDRA float64	GARD float64	DiseaseName string	AgeOfOnset string	TypeOfInheritance string
166,024	Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome	Disease	Disorder	LD24.61	11,778	Q77.3	607,131	C4304500	null	null	null	Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome	Infancy, Neonatal	Autosomal recessive
166,032	Multiple epiphyseal dysplasia-miniepiphyses syndrome	Disease	Disorder	LD24.61	12,254	Q77.3	609,325	C5924992	C563735	null	null	Multiple epiphyseal dysplasia-miniepiphyses syndrome	Childhood, Infancy	null
58	Alexander disease	Disease	Disorder	8A44.2	8,752	G93.8	203,450	C0270726	D038261	10,083,059	5,774	Alexander disease	All ages	Autosomal dominant
166,029	Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome	Disease	Disorder	LD24.61	12,253	Q77.3	609,324	C5924993	C563736	null	null	Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome	Childhood	null
61	Alpha-mannosidosis	Disease	Disorder	5C56.21	9,561	E77.1	248,500	C0024748	D008363	10,083,855	6,968	Alpha-mannosidosis	Childhood, Infancy, Neonatal	Autosomal recessive
166,038	Metaphyseal chondrodysplasia, Kaitila type	Disease	Disorder	LD24.7	9,594	Q78.5	250,230	C1855217	C565400	null	null	Metaphyseal chondrodysplasia, Kaitila type	Neonatal	null
166,035	Brachydactyly-short stature-retinitis pigmentosa syndrome	Malformation syndrome	Disorder	null	9,598	Q87.8	250,410	C5190709	null	null	null	Brachydactyly-short stature-retinitis pigmentosa syndrome	Childhood, Infancy	Autosomal recessive
93	Aspartylglucosaminuria	Disease	Disorder	5C56.21	8,830	E77.1	208,400	C0268225	D054880	10,068,220	5,854	Aspartylglucosaminuria	Childhood	Autosomal recessive
585	Multiple sulfatase deficiency	Disease	Disorder	5C56.0Y	10,088	E75.2	272,200	C0268263	D052517	null	5,061	Multiple sulfatase deficiency	Adolescent, Antenatal, Childhood, Infancy, Neonatal	Autosomal recessive
118	Beta-mannosidosis	Disease	Disorder	5C56.21	9,562	E77.1	248,510	C4048196	D044905	null	869	Beta-mannosidosis	Adolescent, Adult, Childhood, Infancy, Neonatal	Autosomal recessive
166,068	Pontocerebellar hypoplasia type 5	Malformation syndrome	Disorder	null	null	null	610,204	C1857762	null	null	10,709	null	null	null
141	Canavan disease	Disease	Disorder	5C50.E1	10,079	E75.2	271,900	C0206307	D017825	10,067,608	5,984	Canavan disease	Childhood, Infancy, Neonatal	Autosomal recessive
166,063	Pontocerebellar hypoplasia type 4	Malformation syndrome	Disorder	LD20.01	9,166	Q04.3	225,753	C1856974	C536716	null	343	Pontocerebellar hypoplasia type 4	Antenatal	Autosomal recessive
166,078	Von Willebrand disease type 1	Clinical subtype	Subtype of disorder	3B12	8,668	D68.0	193,400	C1264039	D056725	null	null	Von Willebrand disease type 1	All ages	Autosomal dominant
206	NON RARE IN EUROPE: Crohn disease	Disease	Disorder	null	null	null	null	null	null	null	null	null	null	null
166,073	Pontocerebellar hypoplasia type 6	Malformation syndrome	Disorder	LD20.01	12,683	Q04.3	611,523	C1969084	C548074	null	10,710	Pontocerebellar hypoplasia type 6	Neonatal	Autosomal recessive
213	Cystinosis	Disease	Disorder	5C60.1	16,239	E72.0	219,900	C4316899	D003554	10,011,777	6,236	Cystinosis	Adolescent, Adult, Childhood, Infancy	Autosomal recessive
166,084	Von Willebrand disease type 2A	Clinical subtype	Subtype of disorder	3B12	15,628	D68.0	613,554	C1282968	null	null	null	Von Willebrand disease type 2A	null	Autosomal dominant, Autosomal recessive
333	Farber disease	Disease	Disorder	5C56.0Y	9,218	E75.2	228,000	C0268255	D055577	10,083,960	6,426	Farber disease	Antenatal, Childhood, Infancy, Neonatal	Autosomal recessive
166,081	Von Willebrand disease type 2	Clinical subtype	Subtype of disorder	3B12	13,304	D68.0	613,554	C1264040	D056728	null	null	Von Willebrand disease type 2	All ages	Autosomal dominant, Autosomal recessive
349	Fucosidosis	Disease	Disorder	5C56.21	9,254	E77.1	230,000	C0016788	D005645	null	6,473	Fucosidosis	Childhood, Infancy	Autosomal recessive
166,090	Von Willebrand disease type 2M	Clinical subtype	Subtype of disorder	3B12	15,630	D68.0	613,554	C1282974	null	null	null	Von Willebrand disease type 2M	null	Autosomal dominant
365	Glycogen storage disease due to acid maltase deficiency	Disease	Disorder	5C51.3	9,290	E74.0	232,300	C0017921	D006009	10,053,185	5,714	Glycogen storage disease due to acid maltase deficiency	Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal	Autosomal recessive
166,087	Von Willebrand disease type 2B	Clinical subtype	Subtype of disorder	3B12	15,629	D68.0	613,554	C1282971	null	null	null	Von Willebrand disease type 2B	null	Autosomal dominant
366	Glycogen storage disease due to glycogen debranching enzyme deficiency	Disease	Disorder	5C51.3	9,291	E74.0	232,400	C0017922	D006010	10,053,250	9,442	Glycogen storage disease due to glycogen debranching enzyme deficiency	Childhood, Infancy	Autosomal recessive
166,093	Von Willebrand disease type 2N	Clinical subtype	Subtype of disorder	3B12	15,631	D68.0	613,554	C1282975	null	null	null	Von Willebrand disease type 2N	null	Autosomal recessive
368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	Disease	Disorder	5C51.3	9,293	E74.0	232,600	C0017924	D006012	10,018,462	6,528	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	Adolescent, Adult, Childhood	Autosomal recessive
166,096	Von Willebrand disease type 3	Clinical subtype	Subtype of disorder	3B12	10,191	D68.0	277,480	C1264041	D056729	null	null	Von Willebrand disease type 3	Infancy, Neonatal	Autosomal recessive
367	Glycogen storage disease due to glycogen branching enzyme deficiency	Disease	Disorder	5C51.3	9,292	E74.0	263,570	C0017923	D006011	10,053,249	2,520	Glycogen storage disease due to glycogen branching enzyme deficiency	All ages	Autosomal recessive
166,100	Autosomal dominant otospondylomegaepiphyseal dysplasia	Malformation syndrome	Disorder	LD2F.1Y	8,490	Q87.0	184,840	C1861481	C537494	null	null	Autosomal dominant otospondylomegaepiphyseal dysplasia	Infancy, Neonatal	Autosomal dominant
371	Glycogen storage disease due to muscle phosphofructokinase deficiency	Disease	Disorder	5C51.3	9,295	E74.0	232,800	C0017926	D006014	10,053,241	5,686	Glycogen storage disease due to muscle phosphofructokinase deficiency	Adolescent, Adult, Childhood, Infancy	Autosomal recessive
166,105	FASTKD2-related infantile mitochondrial encephalomyopathy	Disease	Disorder	5C53.2Y	15,632	G71.3	618,855	C4755278	null	null	null	FASTKD2-related infantile mitochondrial encephalomyopathy	Adolescent, Infancy, Neonatal	Autosomal recessive
369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	Disease	Disorder	5C51.3	9,294	E74.0	232,700	C0017925	D006013	10,053,240	6,529	Glycogen storage disease due to liver glycogen phosphorylase deficiency	Childhood	Autosomal recessive
447	Paroxysmal nocturnal hemoglobinuria	Disease	Disorder	3A21.0	100,244	D59.5	615,399	C0024790	D006457	10,034,042	7,337	Paroxysmal nocturnal hemoglobinuria	All ages	Not applicable
166,108	Birk-Barel syndrome	Disease	Disorder	null	12,856	Q87.8	612,292	C2676770	C567357	null	10,358	Birk-Barel syndrome	Infancy	Autosomal dominant
166,113	Bazex syndrome	Disease	Disorder	EL10	null	L44.8	null	C0406355	null	10,065,247	null	Bazex syndrome	Adult	Not applicable
535	Rare cutaneous lupus erythematosus	Clinical group	Group of disorders	null	null	null	null	C5680424	null	10,056,509	6,225	Rare cutaneous lupus erythematosus	All ages	Multigenic/multifactorial
166,119	Isolated osteopoikilosis	Disease	Disorder	LD24.11	15,634	Q78.8	166,700	C1833699	C563484	null	null	Isolated osteopoikilosis	Adolescent, Adult, Childhood	Autosomal dominant
487	Krabbe disease	Disease	Disorder	8A44.4	9,499	E75.2	611,722	C0023521	D007965	10,023,492	6,844	Krabbe disease	Adolescent, Adult, Childhood, Infancy, Neonatal	Autosomal recessive
166,260	Dentinogenesis imperfecta type 2	Clinical subtype	Subtype of disorder	LA30.8	7,441	K00.5	605,594	C2973527	null	null	12,796	Dentinogenesis imperfecta type 2	Childhood	Autosomal dominant
166,265	Dentinogenesis imperfecta type 3	Clinical subtype	Subtype of disorder	LA30.8	7,442	K00.5	125,500	C0399378	C538216	null	10,144	Dentinogenesis imperfecta type 3	Childhood	Autosomal dominant
583	Mucopolysaccharidosis type 6	Disease	Disorder	5C56.33	9,661	E76.2	253,200	C0026709	D009087	10,056,892	7,095	Mucopolysaccharidosis type 6	Childhood	Autosomal recessive
166,272	Odontochondrodysplasia	Malformation syndrome	Disorder	null	100,325	Q78.8	184,260	C2745953	C535792	null	8,717	Odontochondrodysplasia	Infancy, Neonatal	Autosomal recessive
576	Mucolipidosis type II	Disease	Disorder	5C56.20	9,650	E77.0	252,500	C0020725	C538602	10,072,928	6,749	Mucolipidosis type II	Antenatal, Neonatal	Autosomal recessive
166,277	Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia	Malformation syndrome	Disorder	LD24.KY	11,501	Q78.8	604,922	C4518794	null	null	10,290	Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia	Childhood	Unknown
812	Sialidosis type 1	Disease	Disorder	5C56.21	19,346	E77.1	256,550	C0023806	null	null	7,639	Sialidosis type 1	Adolescent, Childhood	Autosomal recessive
166,282	Hereditary sick sinus syndrome	Disease	Disorder	BC65.Y	12,061	I49.5	619,464	C0340491	D012804	10,040,639	13,663	Hereditary sick sinus syndrome	Adult, Elderly	Autosomal dominant, Autosomal recessive
578	Mucolipidosis type IV	Disease	Disorder	5C56.0Y	9,653	E75.1	252,650	C0238286	null	10,072,930	94	Mucolipidosis type IV	Infancy	Autosomal recessive
166,286	Porokeratotic eccrine ostial and dermal duct nevus	Disease	Disorder	LC02	15,635	Q82.5	null	C0473579	null	null	null	Porokeratotic eccrine ostial and dermal duct nevus	Infancy, Neonatal	Not applicable
577	Mucolipidosis type III	Disease	Disorder	5C56.20	null	E77.0	252,605	C0033788	null	10,072,929	3,806	Mucolipidosis type III	Childhood	Autosomal recessive
166,291	Dirofilariasis	Disease	Disorder	1F66.Y	15,636	B74.8	null	C0012602	D004184	10,080,290	11,908	Dirofilariasis	All ages	Not applicable
166,295	Benign non-familial infantile seizures	Clinical group	Group of disorders	null	15,637	null	null	C5680425	null	null	null	null	null	null
771	NON RARE IN EUROPE: Ulcerative colitis	Disease	Disorder	null	null	null	null	null	null	null	null	null	null	null
166,308	Benign infantile focal epilepsy with midline spikes and waves during sleep	Disease	Disorder	8A61.10	15,641	G40.0	null	C4749346	null	null	null	Benign infantile focal epilepsy with midline spikes and waves during sleep	Infancy	null
166,305	OBSOLETE: Benign infantile seizures associated with mild gastroenteritis	Disease	Disorder	null	null	null	null	null	null	null	null	null	null	null
2,912	Poliomyelitis	Disease	Disorder	1C81	17,373	A80.1	null	C0032371	D011051	10,036,012	7,413	Poliomyelitis	Childhood	Not applicable
166,302	Benign partial epilepsy with secondarily generalized seizures in infancy	Disease	Disorder	null	15,639	null	null	C4749728	null	null	null	null	null	null
166,299	Benign partial epilepsy of infancy with complex partial seizures	Disease	Disorder	null	15,638	null	null	C4749347	null	null	null	null	null	null
796	Sandhoff disease	Disease	Disorder	5C56.00	10,006	E75.0	268,800	C0036161	D012497	null	2,521	Sandhoff disease	Adolescent, Adult, Childhood, Infancy	Autosomal recessive
166,409	Photosensitive occipital lobe epilepsy	Disease	Disorder	8A61.40	15,643	G40.5	609,573	C0393720	null	null	5,648	Photosensitive occipital lobe epilepsy	Adolescent, Adult, Childhood	null
801	Scleroderma	Clinical group	Group of disorders	null	19,340	null	null	C0011644	null	10,039,710	null	Scleroderma	All ages	Not applicable
166,311	Benign partial infantile seizures	Clinical group	Group of disorders	null	15,642	null	null	C5680426	null	null	null	null	null	null
461	Recessive X-linked ichthyosis	Disease	Disorder	EC20.01	10,622	Q80.1	308,100	C2720163	D016114	null	7,904	Recessive X-linked ichthyosis	Neonatal	X-linked recessive
166,421	Orgasm-induced epilepsy	Disease	Disorder	8A61.40	15,646	G40.5	null	C4706598	null	null	null	Orgasm-induced epilepsy	Adult	null
856	NON RARE IN EUROPE: Tourette syndrome	Disease	Disorder	null	null	F95.2	null	null	null	null	null	null	null	null
166,418	Eating reflex epilepsy	Disease	Disorder	8A61.40	15,645	G40.5	null	C0393725	null	null	null	Eating reflex epilepsy	All ages	null
166,415	Audiogenic epilepsy	Disease	Disorder	8A61.40	15,644	G40.5	null	C0751791	null	null	null	null	null	null
584	Mucopolysaccharidosis type 7	Disease	Disorder	5C56.3Y	9,662	E76.2	253,220	C0085132	D016538	10,056,893	7,096	Mucopolysaccharidosis type 7	Adolescent, Antenatal, Childhood, Infancy, Neonatal	Autosomal recessive
825	NON RARE IN EUROPE: Ankylosing spondylitis	Disease	Disorder	null	null	M45	null	null	null	null	null	null	null	null
166,412	Hot water reflex epilepsy	Disease	Disorder	8A61.40	13,229	G40.5	613,340	C4706506	null	null	null	Hot water reflex epilepsy	All ages	Autosomal dominant
166,433	Epilepsy with reading-induced seizures	Disease	Disorder	8A61.40	7,560	G40.5	132,300	C0278193	null	null	null	Epilepsy with reading-induced seizures	Adolescent, Adult	null
166,430	Micturition-induced epilepsy	Disease	Disorder	8A61.40	15,649	G40.5	null	C4706587	null	null	null	null	null	null
881	Turner syndrome	Malformation syndrome	Disorder	LD50.0	19,499	Q96.4	null	C0041408	D014424	10,045,181	7,831	Turner syndrome	Antenatal, Childhood, Infancy, Neonatal	Not applicable, Unknown
166,427	Startle epilepsy	Disease	Disorder	8A61.40	15,648	G40.5	null	C4706527	null	null	null	null	null	null
166,424	Thinking epilepsy	Disease	Disorder	8A61.40	15,647	G40.5	null	C4706523	null	null	null	null	null	null
95	Friedreich ataxia	Disease	Disorder	8A03.10	100,339	G11.1	601,992	C0016719	D005621	10,017,374	6,468	Friedreich ataxia	Adolescent, Childhood	Autosomal recessive
166,466	Neurocutaneous syndrome with epilepsy	Category	Group of disorders	null	null	null	null	C5680427	null	null	null	null	null	null
848	Beta-thalassemia	Clinical group	Group of disorders	3A50.2	19,402	D56.1	603,902	C0005283	D017086	10,043,391	871	Beta-thalassemia	Childhood, Infancy	Autosomal dominant, Autosomal recessive
166,469	Chromosomal anomaly with epilepsy as a major feature	Category	Group of disorders	null	null	null	null	C5680428	null	null	null	null	null	null
846	Alpha-thalassemia	Clinical group	Group of disorders	3A50.0	11,399	D56.0	604,131	C0002312	D017085	10,043,390	621	Alpha-thalassemia	All ages	Autosomal recessive
166,457	OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis	Category	Group of disorders	null	null	null	null	null	null	null	null	null	null	null
586	Cystic fibrosis	Disease	Disorder	CA25	9,061	E84	219,700	C0010674	D003550	10,011,762	6,233	Cystic fibrosis	All ages	Autosomal recessive
166,463	Epilepsy syndrome	Category	Group of disorders	null	15,650	null	null	C4505072	D000073376	null	null	null	null	null
166,478	Cerebral malformation with epilepsy	Category	Group of disorders	null	null	null	null	C5680429	null	null	null	null	null	null
262	Duchenne and Becker muscular dystrophy	Clinical group	Group of disorders	null	null	null	null	C3542021	null	null	null	Duchenne and Becker muscular dystrophy	Adolescent, Adult, Childhood	X-linked recessive
166,481	Metabolic diseases with epilepsy	Category	Group of disorders	null	null	null	null	C1299598	null	null	null	null	null	null
166,472	Monogenic disease with epilepsy	Category	Group of disorders	null	null	null	null	C5680430	null	null	null	null	null	null
166,475	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	Category	Group of disorders	null	null	null	null	C5680431	null	null	null	null	null	null
261	Emery-Dreifuss muscular dystrophy	Disease	Disorder	8C70.2	16,830	G71.0	612,999	C0410189	D020389	10,081,544	6,329	Emery-Dreifuss muscular dystrophy	Childhood	Autosomal dominant, Autosomal recessive, X-linked recessive
166,490	Infectious disease with epilepsy	Category	Group of disorders	null	null	null	null	C5680432	null	null	null	null	null	null
166,484	Inflammatory and autoimmune disease with epilepsy	Category	Group of disorders	null	null	null	null	C5680433	null	null	null	null	null	null
166,487	Cerebral diseases of vascular origin with epilepsy	Category	Group of disorders	null	null	null	null	C5680434	null	null	null	null	null	null
550	MELAS	Disease	Disorder	8C73.Y	10,789	G71.3	540,000	C0162671	D017241	10,053,872	7,009	MELAS	Adolescent, Adult, Childhood	Mitochondrial inheritance, Not applicable
269	Facioscapulohumeral dystrophy	Disease	Disorder	8C70.3	1,347	G71.0	600,416	C0238288	D020391	10,064,087	9,941	Facioscapulohumeral dystrophy	All ages	Autosomal dominant
480	Kearns-Sayre syndrome	Disease	Disorder	9C82.0	10,787	H49.8	530,000	C0022541	D007625	10,048,804	6,817	Kearns-Sayre syndrome	Adolescent, Adult, Childhood, Infancy	Autosomal recessive, Mitochondrial inheritance, Not applicable
593	Myofibrillar myopathy	Category	Group of disorders	8C76	18,943	null	null	C2678065	C580316	10,087,101	10,529	Myofibrillar myopathy	Adult	Autosomal dominant, Autosomal recessive
163,898	OBSOLETE: Classic paraneoplastic limbic encephalitis	Disease	Disorder	null	null	null	null	null	null	null	null	null	null	null
163,895	OBSOLETE: Paraneoplastic limbic encephalitis	Clinical group	Group of disorders	null	null	null	null	null	null	null	null	null	null	null
163,908	OBSOLETE: Limbic encephalitis with LGI1 antibodies	Disease	Disorder	null	null	null	null	null	null	null	null	null	null	null
163,903	OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens	Category	Group of disorders	null	null	null	null	null	null	null	null	null	null	null

End of preview.

Rare Diseases - Orphadata 2026

11,456 rare diseases with genes, prevalence, inheritance & medical codes

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Source: Kaggle
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rare_diseases_complete.csv
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