Phenotypes for disease #05812 (NP (Niemann-Pick disease (NP)))

245 entries on 3 pages. Showing entries 1 - 100.
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0000233160 Niemann-Pick type C - characteristic phenotype (Neonatal jaundice and liver failure) Familial, autosomal recessive 3d - - - Johan den Dunnen 00307446
0000243363 Niemann-Pick disease NPB - Unknown - - - - Jiayue Hu 00324690
0000324662 Niemann-Pick type C disease NPC1 see paper; ..., visceral enlargement; cholestasis; neurological involvement; psychomotor retardation, vertical ophthalmoplegia, photophobia, rigidity lower extremities with varus deviation Familial, autosomal recessive 2y6m - - - Johan den Dunnen 00434304
0000324663 Niemann-Pick type C disease NPC1 see paper; ..., visceral enlargement; no cholestasis; neurological involvement Familial, autosomal recessive 2y6m - - - Johan den Dunnen 00434305
0000324664 Niemann-Pick type C disease NPC1 see paper; ..., visceral enlargement; cholestasis; no neurological involvement Familial, autosomal recessive 45d - - - Johan den Dunnen 00434306
0000324665 Niemann-Pick type C disease NPC1 see paper; ..., visceral enlargement; no cholestasis; neurological involvement Familial, autosomal recessive 1y10m - - - Johan den Dunnen 00434307
0000324666 Niemann-Pick type C disease NPC1 see paper; ..., visceral enlargement; cholestasis; neurological involvement Familial, autosomal recessive 2y6m - - - Johan den Dunnen 00434308
0000324667 Niemann-Pick type C disease NPC1 see paper; ..., visceral enlargement; no cholestasis; no neurological involvement Familial, autosomal recessive 2m - - - Johan den Dunnen 00434309
0000324668 Niemann-Pick type C disease NPC1 see paper; ..., visceral enlargement; no cholestasis; no neurological involvement Familial, autosomal recessive 2y6m - - - Johan den Dunnen 00434310
0000324669 Niemann-Pick disease NPC2 see paper; ..., normal birth weight; 3m-failure to thrive, cough, loose stools; 5m-delay in motor development, could not hold neck or roll over Familial, autosomal recessive 00y05m - - - Johan den Dunnen 00434312
0000324670 Niemann-Pick type C disease, severe infantile NPC1 hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252) Familial, autosomal recessive 2y - - - Johan den Dunnen 00434313
0000324671 Niemann-Pick type C disease, severe infantile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285) Familial, autosomal recessive 3y - - - Johan den Dunnen 00434314
0000324672 Niemann-Pick type C disease, severe infantile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250) Familial, autosomal recessive 3y - - - Johan den Dunnen 00434315
0000324673 Niemann-Pick type C disease, early infantile systemic, lethal form NPC2 classical phenotype; respiratory distress with interstitial lung infiltration Familial, autosomal recessive 4m - - - Johan den Dunnen 00434316
0000324674 Niemann-Pick type C disease, early infantile systemic, lethal form NPC1 jaundice (HP:0000952) Familial, autosomal recessive 2m - - - Johan den Dunnen 00434317
0000324675 Niemann-Pick type C disease, severe infantile NPC1 classical phenotype; splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285) Familial, autosomal recessive 2y - - - Johan den Dunnen 00434318
0000324676 Niemann-Pick type C disease, severe infantile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252) Familial, autosomal recessive 2m - - - Johan den Dunnen 00434319
0000324677 Niemann-Pick type C disease, early infantile systemic, lethal form NPC1 jaundice (HP:0000952) Familial, autosomal recessive 2m - - - Johan den Dunnen 00434320
0000324678 Niemann-Pick type C disease, severe infantile NPC1 splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); ataxia (HP:0001251) Familial, autosomal recessive 2y - - - Johan den Dunnen 00434321
0000324679 Niemann-Pick type C disease, severe infantile NPC1 hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); ataxia (HP:0001251) Familial, autosomal recessive 2y - - - Johan den Dunnen 00434322
0000324680 Niemann-Pick type C disease, severe infantile NPC1 hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263) Familial, autosomal recessive 3y - - - Johan den Dunnen 00434323
0000324681 Niemann-Pick type C disease, severe infantile NPC1 hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252) Familial, autosomal recessive 3m - - - Johan den Dunnen 00434324
0000324682 Niemann-Pick type C disease, severe infantile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252) Familial, autosomal recessive 1y - - - Johan den Dunnen 00434325
0000324683 Niemann-Pick type C disease, early infantile systemic, lethal form NPC1 jaundice (HP:0000952); hepatomegaly (HP:0002240) Familial, autosomal recessive 4m - - - Johan den Dunnen 00434326
0000324684 Niemann-Pick type C disease, severe infantile NPC1 hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250) Familial, autosomal recessive 12y - - - Johan den Dunnen 00434327
0000324685 Niemann-Pick type C disease, severe infantile NPC2 hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); hypotonia (HP:0001252); respiratory distress with interstitial lung infiltration Familial, autosomal recessive 3y - - - Johan den Dunnen 00434328
0000324686 Niemann-Pick type C disease, severe infantile NPC2 hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); hypotonia (HP:0001252); respiratory distress with interstitial lung infiltration Familial, autosomal recessive 10m - - - Johan den Dunnen 00434329
0000324687 Niemann-Pick type C disease, late infantile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250) Familial, autosomal recessive 5y - - - Johan den Dunnen 00434330
0000324688 Niemann-Pick type C disease, late infantile NPC1 classical phenotype; splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250) Familial, autosomal recessive 10y - - - Johan den Dunnen 00434331
0000324689 Niemann-Pick type C disease, late infantile NPC1 hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); hypotonia (HP:0001252); spastic tetraparesis (HP:0001285) Familial, autosomal recessive 4y - - - Johan den Dunnen 00434332
0000324690 Niemann-Pick type C disease, late infantile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285) Familial, autosomal recessive 5y - - - Johan den Dunnen 00434333
0000324691 Niemann-Pick type C disease, late infantile NPC1 hepatomegaly (HP:0002240); splenomegaly (HP:0001744); dysarthria (HP:0001260); ataxia (HP:0001251); epilepsy (HP:0001250) Familial, autosomal recessive 4y - - - Johan den Dunnen 00434334
0000324692 Niemann-Pick type C disease, late infantile NPC1 intermediate phenotype; splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250); psychotic symptoms (HP:0000725) Familial, autosomal recessive 4y - - - Johan den Dunnen 00434335
0000324693 Niemann-Pick type C disease, late infantile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); dysphagia (HP:0002015) Familial, autosomal recessive 5y - - - Johan den Dunnen 00434336
0000324694 Niemann-Pick type C disease, late infantile NPC1 hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285) Familial, autosomal recessive 5y - - - Johan den Dunnen 00434337
0000324695 Niemann-Pick type C disease, late infantile NPC1 cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); ataxia (HP:0001251); epilepsy (HP:0001250) Familial, autosomal recessive 9y - - - Johan den Dunnen 00434338
0000324696 Niemann-Pick type C disease, late infantile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250) Familial, autosomal recessive 20y - - - Johan den Dunnen 00434339
0000324697 Niemann-Pick type C disease, late infantile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); ataxia (HP:0001251); epilepsy (HP:0001250); psychotic symptoms (HP:0000725) Familial, autosomal recessive 6y - - - Johan den Dunnen 00434340
0000324698 Niemann-Pick type C disease, late infantile NPC1 hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250) Familial, autosomal recessive 17y - - - Johan den Dunnen 00434341
0000324699 Niemann-Pick type C disease, late infantile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); epilepsy (HP:0001250); cataplexy Familial, autosomal recessive 13y - - - Johan den Dunnen 00434342
0000324700 Niemann-Pick type C disease, juvenile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250) Familial, autosomal recessive 15y - - - Johan den Dunnen 00434343
0000324701 Niemann-Pick type C disease, juvenile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744) Familial, autosomal recessive 12y - - - Johan den Dunnen 00434344
0000324702 Niemann-Pick type C disease, juvenile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250) Familial, autosomal recessive 16y - - - Johan den Dunnen 00434345
0000324703 Niemann-Pick type C disease, juvenile NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); psychotic symptoms (HP:0000725); cataplexy Familial, autosomal recessive 20y - - - Johan den Dunnen 00434346
0000324704 Niemann-Pick type C disease, juvenile NPC1 dysarthria (HP:0001260); ataxia (HP:0001251) Familial, autosomal recessive 15y - - - Johan den Dunnen 00434347
0000324705 Niemann-Pick type C disease, juvenile NPC1 dysarthria (HP:0001260); ataxia (HP:0001251) Familial, autosomal recessive 12y - - - Johan den Dunnen 00434348
0000324706 Niemann-Pick type C disease, adult NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); ataxia (HP:0001251); psychotic symptoms (HP:0000725) Familial, autosomal recessive 36y - - - Johan den Dunnen 00434349
0000324707 Niemann-Pick type C disease, adult NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); hypotonia (HP:0001252); ataxia (HP:0001251); psychotic symptoms (HP:0000725) Familial, autosomal recessive 20y - - - Johan den Dunnen 00434350
0000324708 Niemann-Pick type C disease, adult NPC1 epilepsy (HP:0001250); psychotic symptoms (HP:0000725) Familial, autosomal recessive 40y - - - Johan den Dunnen 00434351
0000324709 Niemann-Pick type C disease, adult NPC1 cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysphagia (HP:0002015); psychotic symptoms (HP:0000725) Familial, autosomal recessive 17y - - - Johan den Dunnen 00434352
0000324710 Niemann-Pick type C disease NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744) Familial, autosomal recessive 4m - - - Johan den Dunnen 00434353
0000324711 Niemann-Pick type C disease NPC1 splenomegaly (HP:0001744); 15m-substrate reduction therapy Familial, autosomal recessive 3y - - - Johan den Dunnen 00434354
0000324712 Niemann-Pick type C disease NPC1 classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744) Familial, autosomal recessive 2y - - - Johan den Dunnen 00434355
0000324713 Niemann-Pick type C disease NPC1 7m-substrate reduction therapy Familial, autosomal recessive 4y - - - Johan den Dunnen 00434356
0000324714 Niemann-Pick type C disease NPC2 6m-died; neonatal cholestatic icterus, hepatosplenomegaly, respiratory failure (3 affected siblings diagnosed prenatally, pregnancies terminated) Familial, autosomal recessive 00y06m - - - Johan den Dunnen 00434357
0000324715 Niemann-Pick type C disease NPC2 - Familial, autosomal recessive - - - - Johan den Dunnen 00434358
0000324716 Niemann-Pick type C disease NPC2 hydramnios, 32w-birth cesarean sectio, respiratory distress from birth; 4d-30d-moderate neonatal cholestatic icterus; hepatosplenomegaly, respiratory failure (2 affected siblings diagnosed prenatally, pregnancies were terminated) Familial, autosomal recessive 6m - - - Johan den Dunnen 00434359
0000324717 Niemann-Pick type C disease NPC2 fetal 23w-ascites (that recessed); birth hepatosplenomegaly; 1m-cholestatic icterus; 3m-severe respiratory insufficiency, respiratory failure Familial, autosomal recessive 6m - - - Johan den Dunnen 00434360
0000324718 Niemann-Pick type C disease NPC2 neonatal period uneventful; 3m-severe interstitial pneumonia, hepatosplenomegaly, respiratory insufficiency, failure (brother with “neonatal hepatitis”, severe lung involvement, 6w-died) Familial, autosomal recessive 7m - - - Johan den Dunnen 00434361
0000324719 Niemann-Pick type C disease NPC2 4m-neonatal cholestatic icterus; pulmonary involvement; 7m-9m-severe motor development delay (15m-sit, no further progress); growth retardation, increasing pulmonary fibrosis, oxygen dependency, respiratory failure Familial, autosomal recessive 19m - - - Johan den Dunnen 00434362
0000324720 Niemann-Pick type C disease NPC2 failure to thrive (with poor feeding); 1y-hepatospleno-megaly, mild delay motor milestones, severe lung involvement; 20m-oxygen dependent, quadruspasticity Familial, autosomal recessive 4y - - - Johan den Dunnen 00434363
0000324721 Niemann-Pick type C disease NPC2 no neonatal cholestatic icterus; 11m-respiratory distress, pulmonary infiltration, (hepato-)splenomegaly; 13m-acute respiratory problems, normal psychomotor development; 18m-hypotonia, gait problems (elder brother splenomegaly, 6m- died in Turkey) Familial, autosomal recessive 20m - - - Johan den Dunnen 00434364
0000324722 Niemann-Pick type C disease NPC2 6y5m-splenomegaly;, school problems; 11y-epileptic fits; mental retardation, slow progression, 21y-still able to walk (affected sister similar course, 27y-still alive) Familial, autosomal recessive 2iy - - - Johan den Dunnen 00434365
0000324723 Niemann-Pick type C disease NPC2 see paper Familial, autosomal recessive - - - - Johan den Dunnen 00434366
0000324724 Niemann-Pick type C disease NPC2 3y6m-deceased; hepatosplenomegaly, delay in psychomotor milestones, hypotonia with hyperreflexia, ataxia Familial, autosomal recessive 3y - - - Johan den Dunnen 00434367
0000324725 Niemann-Pick type C disease NPC2 15m-deceased respiratory failure; soon after birth visceromegaly, cholestasis, failure to thrive, progressive lung interstitial involvement Familial, autosomal recessive 15m - - - Johan den Dunnen 00434368
0000324726 Niemann-Pick type C disease NPC2 neonatal hepatosplenomegaly, developed respiratory distress shortly after birth, failure to thrive; 8m-died of progressive respiratory failure Familial, autosomal recessive 8m - - - Johan den Dunnen 00434369
0000324727 Niemann-Pick type C disease NPC2 4m15d-moderate hepatosplenomegaly, severe pulmonary involvement with hypoxia, severe nutritional problems; 10m15d-bone marrow transplantation, excellent engraftment; 1y-died adenovirus infection Familial, autosomal recessive 1y - - - Johan den Dunnen 00434370
0000324728 Niemann-Pick type C disease NPC2 12y-neurological symptoms (tremor, speech problems); 17y6m-severe dystonia, mental retardation, no hepatosplenomegaly Familial, autosomal recessive 17y6m - - - Johan den Dunnen 00434371
0000324729 Niemann-Pick type C disease NPC2 neonatal cholestatic icterus, severe hepatosplenomegaly with ascites, recovery; paternal aunt died at 2m-neonatal cholestatic liver disease Familial, autosomal recessive 9m - - - Johan den Dunnen 00434372
0000324730 Niemann-Pick type C disease, infantile NPC1 - Familial, autosomal recessive 2y5m - - - Johan den Dunnen 00434374
0000324731 Niemann-Pick type C disease, infantile NPC1 - Familial, autosomal recessive 4y4m - - - Johan den Dunnen 00434375
0000324732 Niemann-Pick type C disease, infantile NPC1 - Familial, autosomal recessive 4y6m - - - Johan den Dunnen 00434376
0000324733 Niemann-Pick type C disease, infantile NPC1 - Familial, autosomal recessive 6m - - - Johan den Dunnen 00434377
0000324734 Niemann-Pick type C disease, infantile NPC1 - Familial, autosomal recessive 5y3m - - - Johan den Dunnen 00434378
0000324735 Niemann-Pick type C disease, late infantile NPC1 - Familial, autosomal recessive 5y9m - - - Johan den Dunnen 00434379
0000324736 Niemann-Pick type C disease, late infantile NPC1 - Familial, autosomal recessive 6m - - - Johan den Dunnen 00434380
0000324737 Niemann-Pick type C disease, late infantile NPC1 - Familial, autosomal recessive 9m - - - Johan den Dunnen 00434381
0000324738 Niemann-Pick type C disease, late infantile NPC1 - Familial, autosomal recessive 8m - - - Johan den Dunnen 00434382
0000324739 Niemann-Pick type C disease, late infantile NPC1 - Familial, autosomal recessive 8m - - - Johan den Dunnen 00434383
0000324740 Niemann-Pick type C disease, late infantile NPC1 - Familial, autosomal recessive 11m - - - Johan den Dunnen 00434384
0000324741 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 6m - - - Johan den Dunnen 00434385
0000324742 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 16y6m - - - Johan den Dunnen 00434386
0000324743 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 27y - - - Johan den Dunnen 00434387
0000324744 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 9y - - - Johan den Dunnen 00434388
0000324745 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 15y - - - Johan den Dunnen 00434389
0000324746 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 14y - - - Johan den Dunnen 00434390
0000324747 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 14y - - - Johan den Dunnen 00434391
0000324748 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 12y - - - Johan den Dunnen 00434392
0000324749 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 25y - - - Johan den Dunnen 00434393
0000324750 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 19y - - - Johan den Dunnen 00434394
0000324751 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 15y - - - Johan den Dunnen 00434395
0000324752 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 22y - - - Johan den Dunnen 00434396
0000324753 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 15y - - - Johan den Dunnen 00434397
0000324754 Niemann-Pick type C disease, juvenile NPC1 - Familial, autosomal recessive 18y - - - Johan den Dunnen 00434398
0000324755 Niemann-Pick type C disease, adult NPC1 - Familial, autosomal recessive 29y - - - Johan den Dunnen 00434399
0000324756 Niemann-Pick type C disease, adult NPC1 - Familial, autosomal recessive 37y - - - Johan den Dunnen 00434400
0000324757 Niemann-Pick type C disease, adult NPC1 - Familial, autosomal recessive 44y - - - Johan den Dunnen 00434401
0000324758 Niemann-Pick type C disease, adult NPC1 - Familial, autosomal recessive 25y - - - Johan den Dunnen 00434402
0000324759 Niemann-Pick type C disease, adult NPC1 - Familial, autosomal recessive 21y - - - Johan den Dunnen 00434403
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