User:Magnus Manske/Mix'n'match report/583

A report for the Mix'n'match tool. This page will be replaced regularly! Please note:

• If you fix something from this list on Wikidata, please fix it on Mix'n'match as well, if applicable. Otherwise, the error might be re-introduced from there.
• 'External ID' refers to the IDs in the original (external) catalog; the same as the statement value for the associated property.

GARD rare disease

identifier for a rare disease in the United States National Institutes of Health's Genetic and Rare Diseases (GARD) Information Center database

Unknown external ID

External ID	Item
11946	dementia (Q83030)
12060	cerebellar ataxia (Q154709)
11932	osteoporosis (Q165328)
11963	intellectual disability (Q183560)
11955	lymphoma (Q208414)
11934	diabetes insipidus (Q220551)
12020	pyelonephritis (Q506652)
12024	angiomyolipoma (Q539681)
12069	fibromyalgia (Q540571)
11958	cardiomyopathy (Q847583)
11965	prolymphocytic leukemia (Q2112719)
12311	congenital lactase deficiency (Q3043135)
12465	thrombotic microangiopathy (Q3312044)
https://www.imbiomed.com.mx/articulo.php?id=115694	Webbed neck (Q3539327)
12021	xanthogranulomatous pyelonephritis (Q4243298)
12949	aromatase excess syndrome (Q4795508)
12683	Distal hereditary motor neuropathies (Q5282840)
11956	mitochondrial myopathy (Q6881881)
10405	retinal degeneration associated with rhodopsin mutations (Q7316761)
313	Sabinas brittle hair syndrome (Q7396137)
1247	Charcot-Marie-Tooth disease type 1C (Q11690084)
12338	transcobalamin II deficiency (Q18553496)
10048	anonychia congenita (Q22443772)
10698	Noonan syndrome 2 (Q26492790)
9885	Noonan syndrome 3 (Q26492791)
10699	Noonan syndrome 4 (Q26492792)
10700	Noonan syndrome 5 (Q26492793)
10701	Noonan syndrome 6 (Q26492794)
8548	Charcot-Marie-Tooth disease type 2B1 (Q27164462)
9198	Charcot-Marie-Tooth disease type 2J (Q27164463)
9197	Charcot-Marie-Tooth disease type 2I (Q27164464)
12451	Charcot-Marie-Tooth disease type 2R (Q27164468)
1251	Charcot-Marie-Tooth disease type 2D (Q27164471)
9193	Charcot-Marie-Tooth disease type 2E (Q27164473)
1250	Charcot-Marie-Tooth disease axonal type 2C (Q27164492)
10884	Leber congenital amaurosis 15 (Q27674860)
10389	retinitis pigmentosa 24 (Q27674963)
9491	Leber congenital amaurosis 9 (Q27677581)
636	Leber congenital amaurosis 2 (Q27677590)
9467	Alzheimer disease 2 (Q27677598)
9469	Alzheimer disease 4 (Q27677602)
9468	Alzheimer disease 3 (Q27677605)
10881	Leber congenital amaurosis 8 (Q27677617)
10489	Leber congenital amaurosis 12 (Q27677618)
10885	Leber congenital amaurosis 16 (Q27677637)
9191	Charcot-Marie-Tooth disease type 1F (Q27677642)
9189	Charcot-Marie-Tooth disease type 1D (Q27677643)
12443	Charcot-Marie-Tooth disease type 4J (Q27677648)
3973	Charcot-Marie-Tooth disease type 4D (Q27677650)
10883	Leber congenital amaurosis 14 (Q27677651)
1253	Charcot-Marie-Tooth disease type 4B1 (Q27677653)
9983	Leber congenital amaurosis 5 (Q27677679)
10488	Leber congenital amaurosis 11 (Q27677680)
10487	Leber congenital amaurosis 10 (Q27677710)
10490	Leber congenital amaurosis 6 (Q27677729)
10882	Leber congenital amaurosis 13 (Q27677730)
9661	Leber congenital amaurosis 3 (Q27677732)
9662	Leber congenital amaurosis 4 (Q27677733)
10880	Leber congenital amaurosis 7 (Q27677734)
10398	retinitis pigmentosa 19 (Q27677754)
10395	retinitis pigmentosa 32 (Q27677755)
10392	retinitis pigmentosa 18 (Q27677756)
10402	retinitis pigmentosa 35 (Q27677757)
10376	retinitis pigmentosa 12 (Q27677758)
10394	retinitis pigmentosa 28 (Q27677762)
10400	retinitis pigmentosa 33 (Q27677763)
10397	retinitis pigmentosa 26 (Q27677765)
10379	retinitis pigmentosa 41 (Q27677774)
10378	retinitis pigmentosa 29 (Q27677776)
10385	retinitis pigmentosa 14 (Q27677780)
10386	retinitis pigmentosa 7 (Q27677782)
10384	retinitis pigmentosa 25 (Q27677783)
10382	retinitis pigmentosa 9 (Q27677786)
10396	retinitis pigmentosa 31 (Q27677789)
10393	retinitis pigmentosa 22 (Q27677798)
10388	retinitis pigmentosa 13 (Q27677801)
10387	retinitis pigmentosa 17 (Q27677802)
10403	retinitis pigmentosa 36 (Q27677803)
10383	retinitis pigmentosa 11 (Q27677806)
10391	retinitis pigmentosa 23 (Q27677810)
10377	retinitis pigmentosa 6 (Q27677811)
10390	retinitis pigmentosa 34 (Q27677815)
12585	lamin A/C congenital muscular dystrophy (Q27835675)
12832	dilated cardiomyopathy 1S (Q28024579)
5437	Usher syndrome type 1C (Q32143522)
5438	Usher syndrome type 1D (Q32143535)
10043	Usher syndrome type 1F (Q32143548)
5439	Usher syndrome type 1E (Q32143561)
8497	Usher syndrome type 2C (Q32143643)
10657	maturity-onset diabetes of the young type 2 (Q32147145)
10662	maturity-onset diabetes of the young type 8 (Q32147220)
10661	maturity-onset diabetes of the young type 7 (Q32147234)
10663	maturity-onset diabetes of the young type 9 (Q32147247)
12723	hereditary sensory and autonomic neuropathy type 7 (Q50349715)
9195	Charcot-Marie-Tooth disease axonal type 2G (Q55010354)
9465	Alzheimer disease type 1 (Q55345648)
12505	encephalopathy due to prosaposin deficiency (Q55783834)
12641	frontonasal dysplasia with alopecia and genital anomaly (Q55784006)
12640	frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome (Q55784007)
12861	brown-Vialetto-van Laere syndrome 2 (Q55784375)
13126	LIPE-related familial partial lipodystrophy (Q55784827)
12663	facial arteriovenous malformation (Q55785512)
12774	salivary gland type cancer of the breast (Q55786085)
12459	sickle cell disease associated with an other hemoglobin anomaly (Q55786368)
12460	postaxial polydactyly of fingers (Q55787042)
12769	central polydactyly of fingers (Q55787065)
12771	preaxial polydactyly of toes (Q55787066)
12770	postaxial polydactyly of toes (Q55787067)
12588	congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (Q55787759)
12782	congenital disorder of glycosylation with developmental anomaly (Q55787920)
12921	late-onset junctional epidermolysis bullosa (Q55788608)
10373	trichoepithelioma, multiple familial, 2 (Q55999901)
12773	rare adenocarcinoma of the breast (Q56013806)
12923	localized junctional epidermolysis bullosa, non-Herlitz type (Q56013870)
12767	preaxial polydactyly of fingers (Q56013996)
12762	therapy related acute myeloid leukemia and myelodysplastic syndrome (Q56014309)
12601	familial partial lipodystrophy type 4 (Q60195043)
10933	microcephaly, seizures, and developmental delay (Q61913473)
5271	nonphotosensitive trichothiodystrophy (Q102258406)

Different items for the same external ID

External ID	External label	Item in Wikidata	Item in Mix'n'Match	Mix'n'match entry
10049	Choroidal dystrophy central areolar	partial central choroid dystrophy (Q18558233)	central areolar choroidal dystrophy (Q55345702)	25051301
10145	Potocki-Lupski syndrome	Potocki-Luspski syndrome (Q39656409)	chromosome 17q21.31 duplication syndrome (Q7234988)	25055084
10446	Cerebral palsy spastic monoplegic	cerebral palsy spastic monoplegic (Q55346125)	spastic monoplegia (Q18553982)	25051194
10448	Cerebral palsy spastic hemiplegic	cerebral palsy spastic hemiplegic (Q55346124)	spastic hemiplegia (Q7573994)	25051193
10671	Mucoepidermoid carcinoma	salivary gland mucoepidermoid carcinoma (Q53951717)	mucoepidermoid carcinoma (Q2736268)	25054237
10705	Pontocerebellar hypoplasia type 2	pontocerebellar hypoplasia type 2 (Q55345976)	pontocerebellar hypoplasia type 2A (Q2195280)	25055049
10815	Prothrombin thrombophilia	thrombophilia due to thrombin defect (Q102295421)	hyperprothrombinemia (Q5958533)	25055193
10953	MTHFR gene variant	MTHFR (Q14864922)	methylenetetrahydrofolate reductase deficiency (Q30643222)	25054235
10981	Hereditary diffuse leukoencephalopathy with spheroids	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (Q63860020)	Hereditary diffuse leukoencephalopathy with spheroids (Q5737835)	25052947
1142	Sengers syndrome	mitochondrial DNA depletion syndrome 12b (Q60195330)	Sengers syndrome (Q26492825)	25055616
11890	Peroxisome biogenesis disorder-Zellweger syndrome spectrum	peroxisomal biogenesis disorder (Q61913385)	Zellweger spectrum disorder (Q51250082)	25054905
11925	X-linked myotubular myopathy	centronuclear myopathy X-linked (Q66084921)	X-linked myotubular myopathy (Q3331454)	25056568
11983	PASLI disease	activated PI3K delta syndrome (Q25098828)	PASLI Disease (Q17152451)	25054840
12117	Autosomal recessive primary microcephaly	primary autosomal recessive microcephaly (Q60195166)	Autosomal recessive primary microcephaly (Q22965392)	25050736
12396	ALG11-CDG (CDG-Ip)	congenital disorder of glycosylation Ip (Q66299844)	congenital disorder of glycosylation type I (Q18553313)	25050374
12815	GATAD2B-associated neurodevelopmental disorder	GATAD2B-associated neurodevelopmental disorder (Q112629079)	autosomal dominant non-syndromic intellectual disability 18 (Q50349622)	25052622
12930	Anonychia congenita	nonsyndromic congenital nail disorder 4 (Q18553374)	anonychia congenita (Q22443772)	25050531
143	Hairy elbows	hypertrichosis cubiti-short stature syndrome (Q55780845)	Hypertrichosis cubiti (Q16908675)	25052835
1641	Cutis laxa, autosomal recessive type 2B	autosomal recessive cutis laxa type 2 (Q55788726)	autosomal recessive cutis laxa type IIB (Q50349703)	25051818
2431	GM1 gangliosidosis type 3	gangliosidosis GM3 (Q61913507)	GM1 gangliosidosis type 3 (Q55998596)	25052749
2469	Giant congenital nevus	melanoma in congenital melanocytic nevus (Q63226348)	Giant pigmented nevus (Q5558484)	25052662
2751	Hunter Carpenter Macdonald syndrome	Hunter-Macdonald syndrome (Q55783851)	neurodegeneration with brain iron accumulation 2A (Q32140695)	25053070
2943	Hypoxanthine guanine phosphoribosyltransferase deficiency	hypoxanthine-guanine phosphoribosyltransferase deficiency (Q56013793)	Lesch-Nyhan syndrome (Q727436)	25053226
3017	Intestinal pseudoobstruction neuronal chronic idiopathic X-linked	X-linked chronic idiopathic intestinal pseudo-obstruction (Q102296085)	intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked (Q55782410)	25053365
3054	Familial joint instability syndrome	familial articular hypermobility syndrome (Q96356378)	Familial joint instability syndrome (Q71347853)	25052399
3324	Hereditary lymphedema type II	Lymphedema tarda (Q110979258)	hereditary lymphedema II (Q60195054)	25052962
4062	Infantile onset spinocerebellar ataxia	mitochondrial DNA depletion syndrome 7 (Q26492819)	infantile onset spinocerebellar ataxia (Q18553306)	25053323
4107	Optic pathway glioma	visual pathway glioma (Q7936613)	optic nerve glioma (Q7098796)	25054644
508	Acroosteolysis dominant type	Acroosteolysis dominant type (Q56297467)	Hajdu-Cheney syndrome (Q632228)	25050240
5295	Triploidy	Triploid syndrome (Q56137331)	triploidy (Q504558)	25056270
5442	Usher syndrome type 3	Usher syndrome type 3 (Q32143494)	retinitis pigmentosa-deafness syndrome (Q32143508)	25056360
5573	Acquired Von Willebrand syndrome	acquired von Willebrand syndrome (Q50349812)	Acquired von Willebrand Syndrome (Q28079605)	25050207
5885	Tumefactive multiple sclerosis	Balo concentric sclerosis (Q1783645)	tumefactive multiple sclerosis (Q7852611)	25056305
614	Alopecia universalis	alopecia areata (Q5075435)	alopecia universalis (Q4734616)	25050398
6323	Eisenmenger syndrome	Eisenmenger Syndrome (Q16007073)	Eisenmenger's syndrome (Q572695)	25052187
6352	Embryonal tumor with multilayered rosettes	embryonal tumour with multilayered rosettes (Q105678458)	ependymoblastoma (Q1346721)	25052198
6544	Acute graft versus host disease	graft-versus-host disease (Q1194520)	acute graft versus host disease (Q56014460)	25050261
6932	Lymph Node Neoplasm	lymph node cancer (Q1868001)	lymph node metastasis (Q2774221)	25053793
7125	Mycoplasmal pneumonia	Mycoplasma pneumoniae infection (Q79054860)	Mycoplasma pneumonia (Q10591185)	25054330
7162	Narcolepsy	narcolepsy-cataplexy syndrome (Q56026918)	narcolepsy (Q189561)	25054394
7220	Milroy disease	hereditary lymphedema I (Q60195052)	hereditary lymphedema (Q1996246)	25054157
7644	Sideroblastic anemia acquired	secondary sideroblastic anemia (Q3616633)	Refractory anemia with ring sideroblasts (Q16938550)	25055696
7851	Hypersensitivity vasculitis	cutaneous small-vessel vasculitis (Q1613670)	hypersensitivity vasculitis (Q4008885)	25053151
8309	Absence of tibia with polydactyly	hypoplastic tibiae-postaxial polydactyly syndrome (Q17122962)	absent tibia-polydactyly syndrome (Q56014402)	25050164
8344	Dementia familial British	ABri amyloidosis (Q50349602)	Familial British dementia (Q5432926)	25051919
8360	Aldred syndrome	retinitis pigmentosa 2 (Q27677814)	Aldred syndrome (Q42593774)	25050371
8502	Coloboma of optic nerve	coloboma of optic nerve (Q48987599)	Morning glory disc anomaly (Q18070807)	25051538
8538	46, XY disorders of sexual development	XY female (Q2597666)	disorder of sex development, 46,XY (Q66653235)	25050127
9119	Lung agenesis	pulmonary agenesis (Q16526734)	pulmonary hypoplasia (Q7259532)	25053788
9268	Glomerulopathy with fibronectin deposits 1	glomerulopathy with fibronectin deposits 1 (Q56014627)	fibronectin glomerulopathy (Q55780814)	25052702
9657	Anauxetic dysplasia	anauxetic dysplasia (Q109836114)	anauxetic dysplasia 1 (Q18553372)	25050482
9676	Miyoshi myopathy	Miyoshi muscular dystrophy (Q60195034)	Miyoshi muscular dystrophy 1 (Q53844391)	25054185
9920	Mitochondrial neurogastrointestinal encephalopathy syndrome	mitochondrial DNA depletion syndrome 1 (Q6881876)	mitochondrial neurogastrointestinal encephalomyopathy (Q56014003)	25054176
9931	Hyperinsulinism-hyperammonemia syndrome	familial hyperinsulinemic hypoglycemia 6 (Q60195059)	hyperinsulinism-hyperammonemia syndrome (Q3508614)	25053130
9948	Beriberi	wet beriberi (Q63226338)	beriberi (Q184084)	25050837
9948	Beriberi	dry beriberi (Q63226339)	beriberi (Q184084)	25050837

Same item for multiple external IDs in Mix'n'match

Item in Mix'n'Match	Mix'n'match entry	External ID	External label
Addison's disease (Q8282)	25050289	5740	Addison's disease
	25053165	6722	Hypoadrenalism
Churg-Strauss syndrome (Q32811)	25050388	5776	Allergic angiitis
	25052236	6111	Eosinophilic granulomatosis with polyangiitis
albinism (Q81867)	25050364	5768	Albinism
	25050367	592	Albinism ocular late onset sensorineural deafness
sickle-cell disease (Q185034)	25052898	6584	Hemoglobin SC disease
	25055692	8614	Sickle cell anemia
Turner syndrome (Q202849)	25052766	2540	Gonadal dysgenesis Turner type
	25056311	7831	Turner syndrome
Klinefelter's syndrome (Q207133)	25050131	11920	47, XXY
	25053528	8705	Klinefelter syndrome
chromosome 5q deletion syndrome (Q245455)	25050143	8723	5q- syndrome
	25051392	10840	Chromosome 5q deletion
acute myeloid leukemia (Q264118)	25050273	12757	Acute myeloid leukemia
	25050280	537	Acute non lymphoblastic leukemia
adenoid cystic carcinoma (Q356005)	25050294	5743	Adenoid cystic carcinoma
	25053856	10464	Malignant cylindroma
double outlet right ventricle (Q361648)	25052061	1907	Double outlet left ventricle
	25052063	1908	Double outlet right ventricle
congenital adrenal hyperplasia (Q366868)	25051580	1467	Congenital adrenal hyperplasia
	25051638	1465	Congenital lipoid adrenal hyperplasia
Lucey–Driscoll syndrome (Q390908)	25053114	2791	Hyperbilirubinemia transient familial neonatal
	25053784	3304	Lucey-Driscoll syndrome
Aicardi-Goutieres syndrome (Q403453)	25050342	575	Aicardi-Goutieres syndrome
	25050343	10893	Aicardi-Goutieres syndrome type 1
	25050344	10894	Aicardi-Goutieres syndrome type 2
	25050345	10895	Aicardi-Goutieres syndrome type 3
	25050346	10896	Aicardi-Goutieres syndrome type 4
	25050347	10151	Aicardi-Goutieres syndrome type 5
microcephaly (Q431643)	25054095	3603	Microcephaly
	25054124	7038	Microencephaly
hemangioblastoma (Q460937)	25051061	8522	Capillary hemangioblastoma
	25052873	8232	Hemangioblastoma
sucrose intolerance (Q498826)	25051664	7710	Congenital sucrase-isomaltase deficiency
	25051665	6183	Congenital sucrose isomaltose malabsorption
Sydenham's chorea (Q522163)	25051290	6057	Chorea minor
	25056020	7716	Sydenham's chorea
congenital hypothyroidism (Q531012)	25051631	1487	Congenital hypothyroidism
	25054418	6211	Neonatal hypothyroidism
Tay-Sachs disease (Q560337)	25052751	2522	GM2-gangliosidosis, B, B1, AB variant
	25056086	7737	Tay-Sachs disease
pseudomyxoma peritonei (Q574694)	25052631	2448	Gelatinous ascites
	25055225	7488	Pseudomyxoma peritonei
hypokalemic periodic paralysis (Q622828)	25053188	6729	Hypokalemic periodic paralysis
	25056477	5557	Westphal disease
maturity-onset diabetes of the young (Q663041)	25053926	3697	Maturity-onset diabetes of the young
	25054202	10257	Monogenic diabetes
Lesch-Nyhan syndrome (Q727436)	25053226	2943	Hypoxanthine guanine phosphoribosyltransferase deficiency
	25053656	7226	Lesch Nyhan syndrome
pure red-cell aplasia (Q751631)	25050206	10898	Acquired pure red cell aplasia
	25055280	7504	Pure red cell aplasia
Becker's nevus (Q813705)	25050809	3856	Becker nevus syndrome
	25050810	5901	Becker's nevus
vitelliform macular dystrophy (Q830265)	25050841	182	Best vitelliform macular dystrophy
	25053836	10120	Macular dystrophy, atypical vitelliform
meningococcal disease (Q890785)	25054002	9547	Meningococcal infection
	25054412	7169	Neisseria meningitidis infection
incontinentia pigmenti achromians (Q907921)	25053192	2992	Hypomelanosis of Ito
	25054495	10830	Nevus of Ito
Sandhoff disease (Q917227)	25052750	2521	GM2 gangliosidosis, 0 variant
	25055537	7604	Sandhoff disease
chondrosarcoma (Q1076087)	25051112	6004	Cartilaginous cancer
	25051286	6055	Chondrosarcoma
hypohidrotic ectodermal dysplasia (Q1077955)	25053183	76	Hypohidrotic ectodermal dysplasia
	25056546	10427	X-linked hypohidrotic ectodermal dysplasia
chronic lymphocytic leukemia (Q1088156)	25051431	6104	Chronic lymphocytic leukemia
	25053669	8227	Leukemia, B-cell, chronic
Coffin-Lowry syndrome (Q1106881)	25051508	8589	Coffin syndrome 1
	25051509	6123	Coffin-Lowry syndrome
Dubin-Johnson syndrome (Q1263039)	25052085	6289	Dubin-Johnson syndrome
	25053115	2793	Hyperbilirubinemia type 2
medulloblastoma (Q1333608)	25053962	7005	Medulloblastoma
	25054453	3963	Neuroepithelioma
tuberous sclerosis (Q1362721)	25050923	946	Bourneville syndrome
	25056294	7830	Tuberous sclerosis
non-syndromic pontocerebellar hypoplasia (Q1698867)	25055047	10977	Pontocerebellar hypoplasia
	25055054	8168	Pontoneocerebellar Hypoplasia
erythropoietic protoporphyria (Q1759600)	25052287	4527	Erythropoietic protoporphyria
	25055194	7476	Protoporphyria
larynx atresia (Q1806415)	25053605	3194	Larynx atresia
	25053606	3192	Larynx, congenital partial atresia of
myotonic dystrophy (Q1860507)	25051652	9134	Congenital myotonic dystrophy
	25054374	10419	Myotonic dystrophy
	25054375	8310	Myotonic dystrophy type 1
Fukuyama congenital muscular dystrophy (Q1955377)	25052587	2411	Fukuda Miyanomae Nakata syndrome
	25052588	6475	Fukuyama type muscular dystrophy
hereditary lymphedema (Q1996246)	25051640	3328	Congenital lymphedema
	25054157	7220	Milroy disease
cryptogenic organizing pneumonia (Q2012642)	25050989	5961	Bronchiolitis obliterans organizing pneumonia
	25051790	1620	Cryptogenic organizing pneumonia
pontocerebellar hypoplasia type 2A (Q2195280)	25054107	3631	Microcephaly pontocerebellar hypoplasia dyskinesia
	25055049	10705	Pontocerebellar hypoplasia type 2
Job's syndrome (Q2336873)	25050704	6800	Autosomal dominant hyper IgE syndrome
	25053110	10956	Hyper IgE syndrome
La Crosse encephalitis (Q2713959)	25051030	10820	California encephalitis
	25053569	10925	La Crosse encephalitis
du Pan syndrome (Q2718677)	25052500	2329	Fibula aplasia complex brachydactyly
	25052504	9879	Fibular hypoplasia and complex brachydactyly
Hemihypertrophy (Q2880638)	25052881	2630	Hemi 3 syndrome
	25052887	12089	Hemihypertrophy
lysinuric protein intolerance (Q3153671)	25051985	1853	Dibasic aminoaciduria 2
	25053818	3335	Lysinuric protein intolerance
localized scleroderma (Q3324389)	25053755	7058	Localized scleroderma
	25054211	10485	Morphea
laryngeal papillomatosis (Q3497004)	25053602	6864	Laryngeal papillomatosis
	25055341	111	Recurrent respiratory papillomatosis
Bruck syndrome (Q3508623)	25050997	1029	Bruck syndrome 1
	25053560	3150	Kuskokwim disease
keratosis pilaris atrophicans faciei (Q3548166)	25051011	1042	Burnett Schwartz Berberian syndrome
	25056328	5395	Ulerythema ophryogenesis
Leiner's disease (Q3591492)	25052282	2191	Erythroderma desquamativa of Leiner
	25053637	6878	Leiner disease
atresia of small intestine (Q3629030)	25050656	140	Atresia of small intestine
	25053420	6799	Jejunal atresia
hereditary sensory and autonomic neuropathy (Q3702898)	25051634	12267	Congenital insensitivity to pain
	25052978	12688	Hereditary sensory and autonomic neuropathy
Caffey disease (Q3801522)	25051025	1051	Caffey disease
	25053140	2832	Hyperostosis cortical infantile
acute erythroid leukemia (Q3843804)	25050257	9620	Acute erythroid leukemia
	25051969	9750	Di Guglielmo's syndrome
chronic pulmonary eosinophilia (Q3907634)	25051421	1130	Chronic eosinophilic pneumonia (CEP)
	25053261	2134	Idiopathic eosinophilic chronic pneumopathy
congenital torticollis (Q3993706)	25051666	4908	Congenital torticollis
	25056196	8724	Torticollis, familial
congenital adrenal hyperplasia due to 21-hydroxylase deficiency (Q4127185)	25050105	5757	21-hydroxylase deficiency
	25051458	12665	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
autoimmune polyendocrine syndrome type 1 (Q4347774)	25050690	8466	Autoimmune polyglandular syndrome type 1
	25056483	5558	Whitaker syndrome
Weaver syndrome (Q4348144)	25056458	7878	Weaver syndrome
	25056459	5545	Weaver Williams syndrome
urofacial syndrome (Q4352832)	25053101	2781	Hydronephrosis peculiar facial expression
	25054560	104	Ochoa syndrome
Mal de Meleda (Q4352925)	25053501	3096	Keratoderma palmoplantaris transgrediens
	25053988	92	Meleda disease
acrodysostosis (Q4357287)	25050218	5724	Acrodysostosis
	25052127	2015	Dysostosis peripheral
3-methylcrotonyl-CoA carboxylase deficiency (Q4634172)	25050116	9151	3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
	25050124	10954	3-methylcrotonyl-CoA carboxylase deficiency
acheiropody (Q4673593)	25050185	376	Acheiropody
	25053056	2737	Horn Kolb syndrome
adenine phosphoribosyltransferase deficiency (Q4682223)	25050291	546	Adenine phosphoribosyltransferase deficiency
	25052013	10666	Dihydroxyadeninuria
Albright's hereditary osteodystrophy (Q4712685)	25050370	5770	Albright's hereditary osteodystrophy
	25055216	7486	Pseudohypoparathyroidism type 1A
spondylocostal dysostosis (Q4821698)	25055894	12174	Spondylocostal dysostosis
	25055929	6798	Spondylothoracic dysostosis
benign familial infantile epilepsy (Q4887955)	25050824	857	Benign familial infantile epilepsy
	25050826	1518	Benign familial neonatal-infantile seizures
Berk–Tabatznik syndrome (Q4892313)	25050838	5109	Berk-Tabatznik syndrome
	25056069	9847	Tabatznik syndrome
congenital fibrosis of the extraocular muscles (Q4990874)	25051617	12590	Congenital fibrosis of extraocular muscles
	25056303	9814	Tukel syndrome
congenital amputation (Q5160408)	25051583	1471	Congenital amputation
	25053706	3254	Limb reduction defect
congenital cytomegalovirus infection (Q5160416)	25051490	1409	CMV antenatal infection
	25051603	1480	Congenital cytomegalovirus
Cutis verticis gyrata (Q5196861)	25050353	578	Akesson syndrome
	25051820	1643	Cutis verticis gyrata
diffuse epidermolytic palmoplantar keratoderma (Q5275412)	25052256	2826	Epidermolytic palmoplantar keratoderma
	25054773	2156	Palmoplantar keratoderma, epidermolytic
autosomal recessive distal spinal muscular atrophy 1 (Q5282845)	25055641	8170	Severe infantile axonal neuropathy
	25055828	8592	Spinal muscular atrophy with respiratory distress 1
endocardial fibroelastosis (Q5376225)	25052215	6336	Endocardial fibroelastosis
	25052219	2121	Endomyocardial fibroelastosis
FACES syndrome (Q5424297)	25052324	2221	FACES syndrome
	25052561	2387	Friedman Goodman syndrome
GAPO syndrome (Q5512866)	25052610	400	GAPO syndrome
	25052816	2573	Growth retardation alopecia pseudoanodontia optic
gangliosidosis GM1 (Q5513690)	25050844	5918	Beta-galactosidase-1 deficiency
	25052746	10891	GM1 gangliosidosis
GMS syndrome (Q5513797)	25052754	2523	Gms syndrome
	25052768	2545	Goniodysgenesis mental retardation short stature
infantile myofibromatosis (Q6029048)	25051618	6163	Congenital generalized fibromatosis
	25053322	2998	Infantile myofibromatosis
lethal midline granuloma (Q6533263)	25054147	7041	Midline lethal granuloma
	25055035	9622	Polymorphic reticulosis
Mycobacterium avium-intracellulare infection (Q6946984)	25052029	9236	Disseminated infection with mycobacterium avium complex
	25054321	7123	Mycobacterium Avium Complex
neuronal ceroid lipofuscinosis 8 northern epilepsy variant (Q7059204)	25052258	2163	Epilepsy mental deterioration Finnish type
	25054543	4010	Northern epilepsy
pyruvate decarboxylase deficiency (Q7263801)	25055297	4620	Pyruvate decarboxylase deficiency
	25055298	7513	Pyruvate dehydrogenase deficiency
tracheobronchomegaly (Q7831318)	25054227	3793	Mounier-Kuhn syndrome
	25056205	5234	Tracheobronchomegaly
Wilson–Turner syndrome (Q8023321)	25054011	3492	Mental retardation gynecomastia obesity X-linked
	25056500	5579	Wilson-Turner syndrome
Woodhouse–Sakati syndrome (Q8032762)	25051970	1832	Diabetes hypogonadism deafness mental retardation
	25056512	5592	Woodhouse Sakati syndrome
Y chromosome microdeletion (Q8046191)	25054836	4230	Partial deletion of Y
	25056576	185	Y chromosome infertility
pseudo-TORCH syndrome (Q9390596)	25050764	815	Baraitser Brett Piesowicz syndrome
	25051636	12426	Congenital intrauterine infection-like syndrome
Rodrigues blindness (Q9395395)	25052164	2045	Ectodermal dysplasia blindness
	25055490	293	Rodrigues blindness
ocular motility disease (Q11583708)	25054225	7061	Motor neuro-ophthalmic disorders
	25054566	7237	Ocular motility disorders
papillary renal cell carcinomas (Q16877679)	25051310	9575	Chromophil renal cell carcinoma
	25054790	9572	Papillary renal cell carcinoma
Biemond syndrome (Q16944551)	25050851	971	Biemond syndrome
	25050853	881	Biemond syndrome type 1
Eosinophilic cystitis (Q16969155)	25052232	6346	Eosinophilic cryptitis
	25052233	6347	Eosinophilic cystitis
Acrocephalopolydactyly (Q17122137)	25050214	2096	Acrocephalopolydactylous dysplasia
	25050215	486	Acrocephalopolydactyly
Yim–Ebbin syndrome (Q17133302)	25050425	641	Amelia cleft lip palate hydrocephalus iris coloboma
	25050931	388	Brachial amelia, forebrain defects and facial clefts
papular mucinosis (Q17144875)	25054794	7321	Papular mucinosis
	25055584	7615	Scleromyxedema
odontoonychodermal syndrome (Q17148148)	25054583	7239	Oculodentodigital dysplasia
	25054597	4054	Odontoonychodermal dysplasia
T-cell prolymphocytic leukemia (Q17152512)	25053670	8224	Leukemia, T-cell, chronic
	71177134	13731	T-cell prolymphocytic leukemia
autosomal recessive limb-girdle muscular dystrophy type 2A (Q17177467)	25053711	1057	Limb-girdle muscular dystrophy type 2A
	25054306	3845	Muscular dystrophy limb girdle type 2A, Erb type
Blepharo-cheilo-odontic syndrome (Q17540023)	25052179	2071	Ectropion inferior cleft lip and or palate
	25053581	3167	Lagophthalmia cleft lip palate
Morning glory disc anomaly (Q18070807)	25051538	8502	Coloboma of optic nerve
	25054210	13354	Morning glory syndrome
autosomal dominant retinal vasculopathy with cerebral leukodystrophy (Q18209717)	25052783	2558	Grand Kaine Fulling syndrome
	25052988	10535	Hereditary vascular retinopathy
	25055402	1217	Retinal vasculopathy with cerebral leukodystrophy
severe congenital neutropenia (Q18553325)	25055639	3981	Severe congenital neutropenia X-linked
	58088860	13592	Severe congenital neutropenia
spondyloepiphyseal dysplasia with congenital joint dislocations (Q18553493)	25052761	2533	Gollop Coates syndrome
	90110166	13169	CHST3-related skeletal dysplasia
Jensen syndrome (Q18553523)	25053422	3046	Jensen syndrome
	25054645	4108	Opticoacoustic nerve atrophy dementia
ocular melanoma (Q18554893)	25053371	8621	Intraocular melanoma
	25054565	7236	Ocular melanoma
hereditary renal cell carcinoma (Q18556335)	25052975	9571	Hereditary renal cell carcinoma
	25055357	4656	Renal carcinoma, familial
Q18556397	25050865	9304	Bile duct cancer
	25050871	5924	Biliary tract cancer
ovarian carcinosarcoma (Q18557160)	25053872	6966	Malignant mixed Mullerian tumor
	25054737	7296	Ovarian carcinosarcoma
amino acid metabolic disorder (Q18558086)	25050438	5793	Aminoacidopathies
	25053303	6770	Inborn amino acid metabolism disorder
non-syndromic X-linked intellectual disability (Q18965508)	25056565	5613	X-linked mental retardation type Raynaud
	25056569	3542	X-linked non-specific intellectual disability
spondylocarpotarsal synostosis syndrome (Q20828711)	25055592	4773	Scoliosis with unilateral unsegmented bar
	25055893	4974	Spondylocarpotarsal synostosis syndrome
acromelic frontonasal dysostosis (Q21124508)	25050234	5539	Acromelic frontonasal dysostosis
	25052570	2393	Frontonasal dysplasia acromelic
nonsyndromic congenital nail disorder 3 (Q21505510)	25052774	2555	Gorlin Bushkell Jensen syndrome
	25053686	9759	Leukonychia totalis
3-methylglutaconic aciduria type 5 (Q24960528)	25050118	10344	3 methylglutaconic aciduria type V
	25051868	12964	DCMA syndrome
amelogenesis imperfecta type 1G (Q27164432)	25050430	9860	Amelogenesis imperfecta hypoplastic type, IG
	25050433	646	Amelogenesis imperfecta nephrocalcinosis
autosomal recessive limb-girdle muscular dystrophy type 2E (Q27677700)	25050846	870	Beta-sarcoglycanopathy
	25053712	3851	Limb-girdle muscular dystrophy type 2E
Christianson syndrome (Q28065629)	25051307	10572	Christianson syndrome
	25054028	9155	Mental retardation X-linked, South African type
Hypertelorism, Teebi type (Q29982068)	25050933	957	Brachycephalofrontonasal dysplasia
	25051746	1579	Craniofrontonasal syndrome Teebi type
methylenetetrahydrofolate reductase deficiency (Q30643222)	25053050	2734	Homocystinuria due to MTHFR deficiency
	25054235	10953	MTHFR gene variant
retinitis pigmentosa-deafness syndrome (Q32143508)	25055406	4684	Retinitis pigmentosa-deafness syndrome
	25056360	5442	Usher syndrome type 3
brachydactyly type A2 (Q32145361)	25050945	979	Brachydactyly type A2
	25050958	989	Brachymesophalangy type 2
Bd syndrome (Q51796815)	25050806	841	Bd syndrome
	25053350	3482	Intellectual disability - athetosis - microphthalmia
hypertrichosis lanuginosa congenita (Q55345960)	25053155	2865	Hypertrichosis lanuginosa congenita
	25053157	12754	Hypertrichosis universalis
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance (Q55373611)	25054027	9947	Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance
	25054624	13093	OPHN1 syndrome
cleft palate-lateral synechia syndrome (Q55373613)	25051474	1391	Cleft palate lateral synechia syndrome
	25056045	5091	Syngnathia cleft palate
multicentric carpo-tarsal osteolysis with or without nephropathy (Q55781319)	25054257	13042	Multicentric carpotarsal osteolysis syndrome
	25054259	3818	Multicentric osteolysis nephropathy
ectodermal dysplasia-sensorineural deafness syndrome (Q55781844)	25051613	9723	Congenital ectodermal dysplasia with hearing loss
	25052168	2053	Ectodermal dysplasia neurosensory deafness
Richieri Costa-Pereira syndrome (Q55782295)	25055448	4718	Richieri Costa Pereira syndrome
	25055671	4852	Short stature Robin sequence cleft mandible hand anomalies clubfoot
tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities (Q55782344)	25053842	3348	Madokoro Ohdo Sonoda syndrome
	25056113	5146	Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
aplasia cutis-myopia syndrome (Q55782901)	25050580	756	Aplasia cutis myopia
	25052649	2464	Gershinibaruch Leibo syndrome
Ehlers-Danlos syndrome, musculocontractural type (Q55783225)	25050290	545	Adducted thumbs Dundar type
	25054313	8486	Musculocontractural Ehlers-Danlos syndrome
arachnodactyly-intellectual disability-dysmorphism syndrome (Q55785349)	25050591	764	Arachnodactyly - intellectual disability - dysmorphism
	25051989	1858	Die Smulders Vles Fryns syndrome
craniodigital syndrome-intellectual disability syndrome (Q55785489)	25051736	1568	Craniodigital syndrome mental retardation
	25055594	4776	Scott Bryant Graham syndrome
congenital enterovirus infection (Q55787016)	25052227	2130	Enterovirus antenatal infection
	25052470	2302	Fetal enterovirus syndrome
Chitty Hall Webb syndrome (Q55789844)	25051259	1277	Chitty Hall Webb syndrome
	25056174	5211	Tibiae bowed radial anomalies osteopenia fracture
cutis verticis gyrata mental deficiency (Q55790117)	25051821	1644	Cutis verticis gyrata mental deficiency
	25053936	3425	McDowall syndrome
dermatocardioskeletal syndrome boronne type (Q55790141)	25050919	939	Borrone Di Rocco Crovato syndrome
	25051942	1812	Dermatocardioskeletal syndrome Boronne type
malignant hyperthermia, susceptibility to, 1 (Q55950231)	25053520	8433	King Denborough syndrome
	25053862	3363	Malignant hyperthermia susceptibility type 1

Multiple items for the same external ID in Wikidata

External ID	Items in Mix'n'Match
10049	partial central choroid dystrophy (Q18558233) central areolar choroidal dystrophy (Q55345702)
10145	chromosome 17q21.31 duplication syndrome (Q7234988) Potocki-Luspski syndrome (Q39656409)
10446	spastic monoplegia (Q18553982) cerebral palsy spastic monoplegic (Q55346125)
10448	spastic hemiplegia (Q7573994) cerebral palsy spastic hemiplegic (Q55346124)
10671	mucoepidermoid carcinoma (Q2736268) salivary gland mucoepidermoid carcinoma (Q53951717)
10705	pontocerebellar hypoplasia type 2A (Q2195280) pontocerebellar hypoplasia type 2 (Q55345976)
10815	hyperprothrombinemia (Q5958533) thrombophilia due to thrombin defect (Q102295421)
10981	Hereditary diffuse leukoencephalopathy with spheroids (Q5737835) adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (Q63860020)
1142	Sengers syndrome (Q26492825) mitochondrial DNA depletion syndrome 12b (Q60195330)
11890	Zellweger spectrum disorder (Q51250082) peroxisomal biogenesis disorder (Q61913385)
11925	X-linked myotubular myopathy (Q3331454) centronuclear myopathy X-linked (Q66084921)
11983	PASLI Disease (Q17152451) activated PI3K delta syndrome (Q25098828)
12117	Autosomal recessive primary microcephaly (Q22965392) primary autosomal recessive microcephaly (Q60195166)
12396	congenital disorder of glycosylation type I (Q18553313) congenital disorder of glycosylation Ip (Q66299844)
12815	autosomal dominant non-syndromic intellectual disability 18 (Q50349622) GATAD2B-associated neurodevelopmental disorder (Q112629079)
12930	nonsyndromic congenital nail disorder 4 (Q18553374) anonychia congenita (Q22443772)
143	Hypertrichosis cubiti (Q16908675) hypertrichosis cubiti-short stature syndrome (Q55780845)
1641	autosomal recessive cutis laxa type IIB (Q50349703) autosomal recessive cutis laxa type 2 (Q55788726)
2431	GM1 gangliosidosis type 3 (Q55998596) gangliosidosis GM3 (Q61913507)
2469	Giant pigmented nevus (Q5558484) melanoma in congenital melanocytic nevus (Q63226348)
2751	neurodegeneration with brain iron accumulation 2A (Q32140695) Hunter-Macdonald syndrome (Q55783851)
3017	intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked (Q55782410) X-linked chronic idiopathic intestinal pseudo-obstruction (Q102296085)
3054	Familial joint instability syndrome (Q71347853) familial articular hypermobility syndrome (Q96356378)
3324	hereditary lymphedema II (Q60195054) Lymphedema tarda (Q110979258)
4062	infantile onset spinocerebellar ataxia (Q18553306) mitochondrial DNA depletion syndrome 7 (Q26492819)
4107	optic nerve glioma (Q7098796) visual pathway glioma (Q7936613)
508	Hajdu-Cheney syndrome (Q632228) Acroosteolysis dominant type (Q56297467)
5295	triploidy (Q504558) Triploid syndrome (Q56137331)
5573	Acquired von Willebrand Syndrome (Q28079605) acquired von Willebrand syndrome (Q50349812)
5885	Balo concentric sclerosis (Q1783645) tumefactive multiple sclerosis (Q7852611)
614	alopecia universalis (Q4734616) alopecia areata (Q5075435)
6323	Eisenmenger's syndrome (Q572695) Eisenmenger Syndrome (Q16007073)
6352	ependymoblastoma (Q1346721) embryonal tumour with multilayered rosettes (Q105678458)
6544	graft-versus-host disease (Q1194520) acute graft versus host disease (Q56014460)
6932	lymph node cancer (Q1868001) lymph node metastasis (Q2774221)
7125	Mycoplasma pneumonia (Q10591185) Mycoplasma pneumoniae infection (Q79054860)
7162	narcolepsy (Q189561) narcolepsy-cataplexy syndrome (Q56026918)
7220	hereditary lymphedema (Q1996246) hereditary lymphedema I (Q60195052)
7644	secondary sideroblastic anemia (Q3616633) Refractory anemia with ring sideroblasts (Q16938550)
7851	cutaneous small-vessel vasculitis (Q1613670) hypersensitivity vasculitis (Q4008885)
8309	hypoplastic tibiae-postaxial polydactyly syndrome (Q17122962) absent tibia-polydactyly syndrome (Q56014402)
8344	Familial British dementia (Q5432926) ABri amyloidosis (Q50349602)
8360	retinitis pigmentosa 2 (Q27677814) Aldred syndrome (Q42593774)
8502	Morning glory disc anomaly (Q18070807) coloboma of optic nerve (Q48987599)
8538	XY female (Q2597666) disorder of sex development, 46,XY (Q66653235)
9119	pulmonary hypoplasia (Q7259532) pulmonary agenesis (Q16526734)
9268	fibronectin glomerulopathy (Q55780814) glomerulopathy with fibronectin deposits 1 (Q56014627)
9676	Miyoshi muscular dystrophy 1 (Q53844391) Miyoshi muscular dystrophy (Q60195034)
9920	mitochondrial DNA depletion syndrome 1 (Q6881876) mitochondrial neurogastrointestinal encephalomyopathy (Q56014003)
9931	hyperinsulinism-hyperammonemia syndrome (Q3508614) familial hyperinsulinemic hypoglycemia 6 (Q60195059)
9948	beriberi (Q184084) wet beriberi (Q63226338) dry beriberi (Q63226339)