format-version: 1.2
date: 03:08:2017 11:53
saved-by: kmr44
default-namespace: disease_associated
ontology: disease_associated

[Term]
id: PBO:5000000
name: disease_associated

[Term]
id: PBO:0025461
name: carbohydrate metabolism disorders
is_a: PBO:5000000

[Term]
id: PBO:0024868
name: pediatric medulloblastoma
is_a: PBO:5000000

[Term]
id: PBO:0002791
name: lipodystrophy
is_a: PBO:5000000

[Term]
id: PBO:0018181
name: Encephalopathy
is_a: PBO:5000000

[Term]
id: PBO:0005759
name: bucentaur or craniofacial development
is_a: PBO:5000000

[Term]
id: PBO:0000618
name: Bloom's syndrome
is_a: PBO:5000000

[Term]
id: PBO:0004751
name: microphthalmia
is_a: PBO:5000000

[Term]
id: PBO:0002539
name: amyotrophic lateral sclerosis eight
is_a: PBO:5000000

[Term]
id: PBO:0025429
name: trichothiodystrophy
is_a: PBO:5000000

[Term]
id: PBO:0025420
name: lysosomal storage disorders
is_a: PBO:5000000

[Term]
id: PBO:0025435
name: pompe disease
is_a: PBO:5000000

[Term]
id: PBO:0005550
name: hyperchlesterolemia
is_a: PBO:5000000

[Term]
id: PBO:0003559
name: paroxysmal nocturnal haemoglobinuri
is_a: PBO:5000000

[Term]
id: PBO:0000468
name: cholesterinosis
is_a: PBO:5000000

[Term]
id: PBO:0011102
name: Seckel syndrome
is_a: PBO:5000000

[Term]
id: PBO:0014269
name: congenital disorders of glycosylation
is_a: PBO:5000000

[Term]
id: PBO:0025487
name: arginase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0025474
name: amino acid transport disorders
is_a: PBO:5000000

[Term]
id: PBO:0000725
name: cholestasis
is_a: PBO:5000000

[Term]
id: PBO:0005198
name: primary open-angle glaucoma
is_a: PBO:5000000

[Term]
id: PBO:0034731
name: Dyskeratosis congenita
is_a: PBO:5000000

[Term]
id: PBO:0025510
name: galactosemia
is_a: PBO:5000000

[Term]
id: PBO:0025539
name: fatty acid metabolism disorder
is_a: PBO:5000000

[Term]
id: PBO:0025506
name: phosphofructokinase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0004971
name: galactokinase deficiency with cataracts
is_a: PBO:5000000

[Term]
id: PBO:0001449
name: Aicardi-Goutieres syndrome
is_a: PBO:5000000

[Term]
id: PBO:0025447
name: urea cycle disorders
is_a: PBO:5000000

[Term]
id: PBO:0003331
name: Cockayne syndrome
is_a: PBO:5000000

[Term]
id: PBO:0001442
name: myotonic dystrophy type 2
is_a: PBO:5000000

[Term]
id: PBO:0017563
name: nonprogressive congenital ataxia
is_a: PBO:5000000

[Term]
id: PBO:0011152
name: Ichthyosis
is_a: PBO:5000000

[Term]
id: PBO:0025536
name: argininosuccinic aciduria
is_a: PBO:5000000

[Term]
id: PBO:0000264
name: tumor suppressor syndrome, tuberous sclereosis
is_a: PBO:5000000

[Term]
id: PBO:0025444
name: organic aciduria
is_a: PBO:5000000

[Term]
id: PBO:0005334
name: hemolytic anemia
is_a: PBO:5000000

[Term]
id: PBO:0025425
name: xeroderma pigementosum
is_a: PBO:5000000

[Term]
id: PBO:0002089
name: renal tubular acidosis
is_a: PBO:5000000

[Term]
id: PBO:0001228
name: pheochromocytoma
is_a: PBO:5000000

[Term]
id: PBO:0025423
name: glycine encephalopathy
is_a: PBO:5000000

[Term]
id: PBO:0011995
name: Johanson-Blizzard syndrome
is_a: PBO:5000000

[Term]
id: PBO:0017621
name: Ataxia
is_a: PBO:5000000

[Term]
id: PBO:0001332
name: inherited protein folding defects
is_a: PBO:5000000

[Term]
id: PBO:0001148
name: infantile leukoencephalopathy
is_a: PBO:5000000

[Term]
id: PBO:0000239
name: cancer
is_a: PBO:5000000

[Term]
id: PBO:0005337
name: mitochondrial disorders
is_a: PBO:5000000

[Term]
id: PBO:0003093
name: 6-phosphogluconate dehydrogenase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0011124
name: Warsaw breakage syndrome
is_a: PBO:5000000

[Term]
id: PBO:0036373
name: Uner Tan Syndrome
is_a: PBO:5000000

[Term]
id: PBO:0003970
name: mental retardation
is_a: PBO:5000000

[Term]
id: PBO:0003364
name: familial dysautonomia
is_a: PBO:5000000

[Term]
id: PBO:0001893
name: ammecr1
is_a: PBO:5000000

[Term]
id: PBO:0025452
name: mitochondrial complex III deficiency
is_a: PBO:5000000

[Term]
id: PBO:0010228
name: paramyloidosis
is_a: PBO:5000000

[Term]
id: PBO:0000986
name: chronic non-spherocytic hemolytic anemia
is_a: PBO:5000000

[Term]
id: PBO:0004353
name: dystonia
is_a: PBO:5000000

[Term]
id: PBO:0025482
name: Maroteau-Lamy syndrome
is_a: PBO:5000000

[Term]
id: PBO:0000948
name: immunodeficiency
is_a: PBO:5000000

[Term]
id: PBO:0025492
name: infantile neuronal ceroid lipofuscinosis
is_a: PBO:5000000

[Term]
id: PBO:0004017
name: cancer, hereditary nonpolyposis colon
is_a: PBO:5000000

[Term]
id: PBO:0002358
name: urolithiasis
is_a: PBO:5000000

[Term]
id: PBO:0011108
name: Baller-Gerold syndrome
is_a: PBO:5000000

[Term]
id: PBO:0001450
name: leukodystrophy
is_a: PBO:5000000

[Term]
id: PBO:0012841
name: Perlman syndrome
is_a: PBO:5000000

[Term]
id: PBO:0001159
name: peroxisomal defects
is_a: PBO:5000000

[Term]
id: PBO:0025499
name: trimethylaminuria
is_a: PBO:5000000

[Term]
id: PBO:0017678
name: Alzheimer's disease
is_a: PBO:5000000

[Term]
id: PBO:0017630
name: Williams-Beuren Syndrome
is_a: PBO:5000000

[Term]
id: PBO:0036526
name: Jalili syndrome
is_a: PBO:5000000

[Term]
id: PBO:0024478
name: Non-Syndromic X-Linked Intellectual Disability
is_a: PBO:5000000

[Term]
id: PBO:0002725
name: Wiskott-Aldrich syndrome
is_a: PBO:5000000

[Term]
id: PBO:0002744
name: AMSH
is_a: PBO:5000000

[Term]
id: PBO:0025424
name: DNA repair-deficiency disorders
is_a: PBO:5000000

[Term]
id: PBO:0025441
name: G6PD deficiency
is_a: PBO:5000000

[Term]
id: PBO:0025463
name: glycogen storage cardiomyopathy
is_a: PBO:5000000

[Term]
id: PBO:0017649
name: congenital disorders of glygosylation
is_a: PBO:5000000

[Term]
id: PBO:0001665
name: Shwachman-Bodian-Diamond syndrome
is_a: PBO:5000000

[Term]
id: PBO:0000731
name: 4-hydroxybutyricaciduria
is_a: PBO:5000000

[Term]
id: PBO:0025545
name: carbohydrate metabolism disorder
is_a: PBO:5000000

[Term]
id: PBO:0025445
name: purine-pyrimidine metabolism disorders
is_a: PBO:5000000

[Term]
id: PBO:0005024
name: aneuploidy
is_a: PBO:5000000

[Term]
id: PBO:0000994
name: Fanconi anemia
is_a: PBO:5000000

[Term]
id: PBO:0025534
name: hypophosphatasia
is_a: PBO:5000000

[Term]
id: PBO:0015233
name: colorectal cancer
is_a: PBO:5000000

[Term]
id: PBO:0011154
name: Metachromatic leukodystrophy
is_a: PBO:5000000

[Term]
id: PBO:0000327
name: Cornelia de Lange syndrome
is_a: PBO:5000000

[Term]
id: PBO:0001312
name: Batten's disease
is_a: PBO:5000000

[Term]
id: PBO:0012850
name: interstitial nephritis, karyomegalic
is_a: PBO:5000000

[Term]
id: PBO:0025449
name: ornithine transcarbamylase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0000363
name: neurological disorders
is_a: PBO:5000000

[Term]
id: PBO:0025462
name: succinate-CoA ligase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0005211
name: LIG4 syndrome
is_a: PBO:5000000

[Term]
id: PBO:0036543
name: microcephalic primordial dwarfism
is_a: PBO:5000000

[Term]
id: PBO:0025455
name: hyperoxaluria
is_a: PBO:5000000

[Term]
id: PBO:0004272
name: ARC syndrome
is_a: PBO:5000000

[Term]
id: PBO:0011520
name: multiple mitochondrial dysfunctions syndrome type 2
is_a: PBO:5000000

[Term]
id: PBO:0003098
name: Hailey-Hailey disease
is_a: PBO:5000000

[Term]
id: PBO:0016969
name: Mitochondrial complex V deficiency, nuclear 2
is_a: PBO:5000000

[Term]
id: PBO:0000185
name: hyperglycinemia
is_a: PBO:5000000

[Term]
id: PBO:0025443
name: maple Syrup Urine Disease
is_a: PBO:5000000

[Term]
id: PBO:0002374
name: Rothmund-Thomsom syndrome
is_a: PBO:5000000

[Term]
id: PBO:0000870
name: glutathionuria
is_a: PBO:5000000

[Term]
id: PBO:0002343
name: galactosialidosis
is_a: PBO:5000000

[Term]
id: PBO:0001427
name: Bowen Conradi syndrome
is_a: PBO:5000000

[Term]
id: PBO:0017816
name: Familial Kufor-Rakeb Syndrome
is_a: PBO:5000000

[Term]
id: PBO:0017851
name: Leukodystrophy
is_a: PBO:5000000

[Term]
id: PBO:0012842
name: Renal cell cancer
is_a: PBO:5000000

[Term]
id: PBO:0004904
name: dominent ataxia SCA28
is_a: PBO:5000000

[Term]
id: PBO:0025422
name: amino acid metabolism disorders
is_a: PBO:5000000

[Term]
id: PBO:0018127
name: Coffin-Lowry Syndrome
is_a: PBO:5000000

[Term]
id: PBO:0011982
name: poikiloderma with neutropenia
is_a: PBO:5000000

[Term]
id: PBO:0000181
name: dystonia-deafness syndrome
is_a: PBO:5000000

[Term]
id: PBO:0000225
name: porphyria
is_a: PBO:5000000

[Term]
id: PBO:0003235
name: Diamond Blackfan Anemia
is_a: PBO:5000000

[Term]
id: PBO:0025532
name: beta-ketothiolase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0017620
name: Progressive Myoclonus Epilepsy
is_a: PBO:5000000

[Term]
id: PBO:0004733
name: schizophrenia
is_a: PBO:5000000

[Term]
id: PBO:0009386
name: Perrault syndrome
is_a: PBO:5000000

[Term]
id: PBO:0001158
name: Zellweger syndrome
is_a: PBO:5000000

[Term]
id: PBO:0017791
name: Heredopathia Atactica Polyneuritiformis
is_a: PBO:5000000

[Term]
id: PBO:0025434
name: glycogen storage disorders
is_a: PBO:5000000

[Term]
id: PBO:0017538
name: tumor suppressor syndrome
is_a: PBO:5000000

[Term]
id: PBO:0025454
name: glutathione synthetase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0003870
name: Menkes/Wilson disease
is_a: PBO:5000000

[Term]
id: PBO:0025469
name: adult Refsum disease
is_a: PBO:5000000

[Term]
id: PBO:0017924
name: Nemaline Myopathy
is_a: PBO:5000000

[Term]
id: PBO:0016564
name: Barrats oesophagus
is_a: PBO:5000000

[Term]
id: PBO:0034715
name: cartilage-hair hypoplasia
is_a: PBO:5000000

[Term]
id: PBO:0002636
name: Schneckenbecken dysplasia
is_a: PBO:5000000

[Term]
id: PBO:0025502
name: pyruvate carboxylase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0025475
name: cystinuria
is_a: PBO:5000000

[Term]
id: PBO:0004650
name: infantile cerebral and cerebellar atrophy
is_a: PBO:5000000

[Term]
id: PBO:0017566
name: Anencephaly
is_a: PBO:5000000

[Term]
id: PBO:0017690
name: optic neuropathy with encephalopathy and cerebellar atrophy
is_a: PBO:5000000

[Term]
id: PBO:0017642
name: infantile hepatic mitochondrial DNA depletion
is_a: PBO:5000000

[Term]
id: PBO:0001738
name: liddle syndrome
is_a: PBO:5000000

[Term]
id: PBO:0025472
name: Microcephaly-capillary malformation syndrome (MICCAP)
is_a: PBO:5000000

[Term]
id: PBO:0025531
name: carbamoyl phosphate synthetase I deficiency
is_a: PBO:5000000

[Term]
id: PBO:0001378
name: Lesch-Nyhan syndrome and Kelley-Seegmiller syndrome
is_a: PBO:5000000

[Term]
id: PBO:0025507
name: hyperprolinemia
is_a: PBO:5000000

[Term]
id: PBO:0000566
name: hyperammonemia
is_a: PBO:5000000

[Term]
id: PBO:0018190
name: axonal neuropathy
is_a: PBO:5000000

[Term]
id: PBO:0005207
name: Friedreich's ataxia
is_a: PBO:5000000

[Term]
id: PBO:0025515
name: holocarboxylase synthetase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0001063
name: epilepsy
is_a: PBO:5000000

[Term]
id: PBO:0018191
name: Neuromyotonia
is_a: PBO:5000000

[Term]
id: PBO:0001074
name: Parkinson's disease
is_a: PBO:5000000

[Term]
id: PBO:0002067
name: Berardinelli-Seip congenital lipodystrophy type 2, Silver spastic paraplegia syndrome, distal hereditary motor neuropathy type V
is_a: PBO:5000000

[Term]
id: PBO:0025503
name: muscle ?-enolase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0017635
name: Lesch-Nyhan Syndrome
is_a: PBO:5000000

[Term]
id: PBO:0025542
name: DNA repair-deficiency disorder
is_a: PBO:5000000

[Term]
id: PBO:0002751
name: Niemann-Pick disease
is_a: PBO:5000000

[Term]
id: PBO:0005438
name: ataxia-telangiectasia
is_a: PBO:5000000

[Term]
id: PBO:0025439
name: glutaric acidemia type II
is_a: PBO:5000000

[Term]
id: PBO:0004989
name: acatalasia
is_a: PBO:5000000

[Term]
id: PBO:0004266
name: optic atrophy
is_a: PBO:5000000

[Term]
id: PBO:0025484
name: Morquio syndrome type A
is_a: PBO:5000000

[Term]
id: PBO:0000719
name: amyotrophic lateral sclerosis
is_a: PBO:5000000

[Term]
id: PBO:0025477
name: Fabry disease
is_a: PBO:5000000

[Term]
id: PBO:0036430
name: Ruijs-Aalfs syndrome
is_a: PBO:5000000

[Term]
id: PBO:0004790
name: metabolic acidosis
is_a: PBO:5000000

[Term]
id: PBO:0025512
name: lyase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0018228
name: IBMPFD
is_a: PBO:5000000

[Term]
id: PBO:0017739
name: Wolff-Parkinson-White syndrome
is_a: PBO:5000000

[Term]
id: PBO:0010274
name: oculomotor apraxia 1
is_a: PBO:5000000

[Term]
id: PBO:0005269
name: candidate disease gene for Armfield syndrome ortholog
is_a: PBO:5000000

[Term]
id: PBO:0005179
name: spinocerebellar ataxia
is_a: PBO:5000000

[Term]
id: PBO:0000613
name: motor neurone disease
is_a: PBO:5000000

[Term]
id: PBO:0025486
name: SCID
is_a: PBO:5000000

[Term]
id: PBO:0017733
name: Christianson Syndrome
is_a: PBO:5000000

[Term]
id: PBO:0018234
name: respiratory chain defects
is_a: PBO:5000000

[Term]
id: PBO:0001005
name: ATPAF2 deficiency
is_a: PBO:5000000

[Term]
id: PBO:0025473
name: phosphoglycerate mutase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0001097
name: homocyctinuria
is_a: PBO:5000000

[Term]
id: PBO:0004141
name: Nijmegen breakage syndrome
is_a: PBO:5000000

[Term]
id: PBO:0014285
name: MDP syndrome
is_a: PBO:5000000

[Term]
id: PBO:0002656
name: DiGeorge syndrome
is_a: PBO:5000000

[Term]
id: PBO:0005720
name: renal cell cancer
is_a: PBO:5000000

[Term]
id: PBO:0004990
name: peroxisomal disorders
is_a: PBO:5000000

[Term]
id: PBO:0004834
name: hypermethioninemia
is_a: PBO:5000000

[Term]
id: PBO:0005836
name: thyroid adenoma
is_a: PBO:5000000

[Term]
id: PBO:0025427
name: hyperlysinemia
is_a: PBO:5000000

[Term]
id: PBO:0002047
name: N syndrome
is_a: PBO:5000000

[Term]
id: PBO:0014581
name: Glutaric aciduria 2A
is_a: PBO:5000000

[Term]
id: PBO:0001110
name: leukoencephalopathy
is_a: PBO:5000000

[Term]
id: PBO:0031909
name: Roberts syndrome
is_a: PBO:5000000

[Term]
id: PBO:0017957
name: Wilson disease
is_a: PBO:5000000

[Term]
id: PBO:0004665
name: chorea-acanthocytosis
is_a: PBO:5000000

[Term]
id: PBO:0011443
name: Kelley-Seegmiller syndrome
is_a: PBO:5000000

[Term]
id: PBO:0004480
name: Sjogren's syndrome
is_a: PBO:5000000

[Term]
id: PBO:0036300
name: congenital sideroblastic anemia
is_a: PBO:5000000

[Term]
id: PBO:0014306
name: paroxysmal nocturnal haemoglobinuria
is_a: PBO:5000000

[Term]
id: PBO:0016525
name: PAPA syndrome
is_a: PBO:5000000

[Term]
id: PBO:0025538
name: acatalasemia
is_a: PBO:5000000

[Term]
id: PBO:0004840
name: adenylosuccinase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0002375
name: RAPADILINO syndrome
is_a: PBO:5000000

[Term]
id: PBO:0025511
name: cytochrome P450 oxidoreductase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0025432
name: fatty acid metabolism disorders
is_a: PBO:5000000

[Term]
id: PBO:0002647
name: glycosylation disorders
is_a: PBO:5000000

[Term]
id: PBO:0025448
name: N-Acetylglutamate Synthetase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0005040
name: X-linked myopathy with excessive autophagy
is_a: PBO:5000000

[Term]
id: PBO:0003308
name: cytochrome c oxidase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0002221
name: Leigh syndrome
is_a: PBO:5000000

[Term]
id: PBO:0011153
name: Mucopolysaccharidosis
is_a: PBO:5000000

[Term]
id: PBO:0001866
name: acute myeloid leukemia
is_a: PBO:5000000

[Term]
id: PBO:0003796
name: Chediak-Higashi syndrome
is_a: PBO:5000000

[Term]
id: PBO:0017568
name: Walker-Warburg syndrome
is_a: PBO:5000000

[Term]
id: PBO:0003297
name: hereditary spastic paraplegia
is_a: PBO:5000000

[Term]
id: PBO:0004906
name: congenital heart disease
is_a: PBO:5000000

[Term]
id: PBO:0016955
name: Marinesco-Sjogren syndrome
is_a: PBO:5000000

[Term]
id: PBO:0001273
name: Lowe syndrome
is_a: PBO:5000000

[Term]
id: PBO:0025451
name: familial hypercholesterolemia
is_a: PBO:5000000

[Term]
id: PBO:0025483
name: metachromatic leukodystrophy
is_a: PBO:5000000

[Term]
id: PBO:0011107
name: Rapadilino syndrome
is_a: PBO:5000000

[Term]
id: PBO:0013023
name: postaxial acrofacial dysostosis syndrome
is_a: PBO:5000000

[Term]
id: PBO:0025421
name: Salla disease
is_a: PBO:5000000

[Term]
id: PBO:0014288
name: Meier-Gorlin syndrome
is_a: PBO:5000000

[Term]
id: PBO:0025491
name: cockayne syndrome
is_a: PBO:5000000

[Term]
id: PBO:0001975
name: Ataxia-ocular apraxia 2
is_a: PBO:5000000

[Term]
id: PBO:0025437
name: peroxisomal metabolism disorders
is_a: PBO:5000000

[Term]
id: PBO:0004674
name: gyrate atrophy of choroid and retina
is_a: PBO:5000000

[Term]
id: PBO:0002376
name: ageing
is_a: PBO:5000000

[Term]
id: PBO:0018157
name: Aspers-Huttenlocher Syndrome
is_a: PBO:5000000

[Term]
id: PBO:0005367
name: polycystic liver disease
is_a: PBO:5000000

[Term]
id: PBO:0017617
name: Charcot-Marie-Tooth disease
is_a: PBO:5000000

[Term]
id: PBO:0011508
name: lactic acidosis and hyperpyruvatemia
is_a: PBO:5000000

[Term]
id: PBO:0004673
name: hyperornithinemia
is_a: PBO:5000000

[Term]
id: PBO:0024855
name: congenital dyserythropoietic anemia type II
is_a: PBO:5000000

[Term]
id: PBO:0025465
name: pentosuria
is_a: PBO:5000000

[Term]
id: PBO:0025529
name: chylomicron retention disease
is_a: PBO:5000000

[Term]
id: PBO:0005794
name: familial adenomatous polyposis
is_a: PBO:5000000

[Term]
id: PBO:0025543
name: phosphoglycerate dehydrogenase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0011093
name: Lesch-Nyhan syndrome
is_a: PBO:5000000

[Term]
id: PBO:0000787
name: coenzyme Q deficiency
is_a: PBO:5000000

[Term]
id: PBO:0003134
name: arginosuccinicaciduria
is_a: PBO:5000000

[Term]
id: PBO:0002803
name: heart disease
is_a: PBO:5000000

[Term]
id: PBO:0025442
name: homocystinuria
is_a: PBO:5000000

[Term]
id: PBO:0017567
name: spina bifida
is_a: PBO:5000000

[Term]
id: PBO:0025495
name: phosphoribosylpyrophosphate synthetase superactivity
is_a: PBO:5000000

[Term]
id: PBO:0017658
name: microcephaly
is_a: PBO:5000000

[Term]
id: PBO:0002953
name: developmental disorders
is_a: PBO:5000000

[Term]
id: PBO:0031907
name: ataxia
is_a: PBO:5000000

[Term]
id: PBO:0017081
name: congenital disorder of glycosylation
is_a: PBO:5000000

[Term]
id: PBO:0004011
name: Birt-Hogg-Dube syndrome
is_a: PBO:5000000

[Term]
id: PBO:0004348
name: multiple carboxylase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0036268
name: dystonia 8
is_a: PBO:5000000

[Term]
id: PBO:0025453
name: breast cancer
is_a: PBO:5000000

[Term]
id: PBO:0002592
name: paraganglioma
is_a: PBO:5000000

[Term]
id: PBO:0001197
name: lactic acidosis
is_a: PBO:5000000

[Term]
id: PBO:0025478
name: Schindler disease
is_a: PBO:5000000

[Term]
id: PBO:0000195
name: mevalonicaciduria
is_a: PBO:5000000

[Term]
id: PBO:0000182
name: deafness
is_a: PBO:5000000

[Term]
id: PBO:0004233
name: hypercalciuric nephrolithiasis
is_a: PBO:5000000

[Term]
id: PBO:0025488
name: citrullinaemia type I
is_a: PBO:5000000

[Term]
id: PBO:0005719
name: hereditary leiomyomatosis
is_a: PBO:5000000

[Term]
id: PBO:0024854
name: Cowden syndrome
is_a: PBO:5000000

[Term]
id: PBO:0005060
name: maple syrup urine disease type II
is_a: PBO:5000000

[Term]
id: PBO:0013841
name: primary microcephaly
is_a: PBO:5000000

[Term]
id: PBO:0001657
name: retinitis pigmentosa
is_a: PBO:5000000

[Term]
id: PBO:0002654
name: rhizomelic chondrodysplasia punctata (RCDP)
is_a: PBO:5000000

[Term]
id: PBO:0018171
name: trichohepatoenteric (SD/THE) syndrome
is_a: PBO:5000000

[Term]
id: PBO:0025505
name: cholesteryl ester storage disease
is_a: PBO:5000000

[Term]
id: PBO:0001251
name: argininemia
is_a: PBO:5000000

[Term]
id: PBO:0001247
name: progeroid disorders
is_a: PBO:5000000

[Term]
id: PBO:0025419
name: metabolic disorders
is_a: PBO:5000000

[Term]
id: PBO:0002815
name: mitochondrial cardiomyopathy
is_a: PBO:5000000

[Term]
id: PBO:0001287
name: Graves' disease
is_a: PBO:5000000

[Term]
id: PBO:0001389
name: Wolf-Hirschhorn syndrome
is_a: PBO:5000000

[Term]
id: PBO:0002025
name: human infertility
is_a: PBO:5000000

[Term]
id: PBO:0025504
name: Wolman disease
is_a: PBO:5000000

[Term]
id: PBO:0014250
name: diabetes
is_a: PBO:5000000

[Term]
id: PBO:0004218
name: tricothiodystrophy disorder
is_a: PBO:5000000

[Term]
id: PBO:0003646
name: CDG-Ii
is_a: PBO:5000000

[Term]
id: PBO:0017967
name: X-linked intellectual disability
is_a: PBO:5000000

[Term]
id: PBO:0001674
name: GRACILE syndrome
is_a: PBO:5000000

[Term]
id: PBO:0018129
name: methemoglobinemia
is_a: PBO:5000000

[Term]
id: PBO:0004151
name: Xeroderma pigmentosum
is_a: PBO:5000000

[Term]
id: PBO:0018212
name: NARP
is_a: PBO:5000000

[Term]
id: PBO:0003309
name: mitochondrial myopathy
is_a: PBO:5000000

[Term]
id: PBO:0017868
name: Lissencephaly
is_a: PBO:5000000

[Term]
id: PBO:0036453
name: Microvillus inclusion disease
is_a: PBO:5000000

[Term]
id: PBO:0002189
name: X-linked spondyloepiphyseal dysplasia tarda
is_a: PBO:5000000

[Term]
id: PBO:0024843
name: West syndrome
is_a: PBO:5000000

[Term]
id: PBO:0025551
name: combined malonic and methylmalonic aciduria
is_a: PBO:5000000

[Term]
id: PBO:0011521
name: lactic acidosis, hyperglycinemia
is_a: PBO:5000000

[Term]
id: PBO:0025548
name: fumarase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0003862
name: muscular dystrophy
is_a: PBO:5000000

[Term]
id: PBO:0001530
name: X-linked non-specific mental retardation
is_a: PBO:5000000

[Term]
id: PBO:0025476
name: lysinuric protein intolerance
is_a: PBO:5000000

[Term]
id: PBO:0025494
name: infantile Refsum disease
is_a: PBO:5000000

[Term]
id: PBO:0025460
name: 2-hydroxyglutaric aciduria
is_a: PBO:5000000

[Term]
id: PBO:0001500
name: hepatoma
is_a: PBO:5000000

[Term]
id: PBO:0038357
name: Keratosis follicularis spinulosa decalvans X-linked
is_a: PBO:5000000

[Term]
id: PBO:0038546
name: Cowchock syndrome
is_a: PBO:5000000

[Term]
id: PBO:0038548
name: Childhood-Onset Dystonia and Optic Atrophy
is_a: PBO:5000000

[Term]
id: PBO:0038390
name: vascular disorder glomuvenous malformation
is_a: PBO:5000000

[Term]
id: PBO:0038524
name: Diffuse Intrinsic Pontine Glioma
is_a: PBO:5000000

[Term]
id: PBO:0038659
name: muscle -enolase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0038679
name: progressive external ophthalmoplegia
is_a: PBO:5000000

[Term]
id: PBO:0038691
name: Costeff syndrome
is_a: PBO:5000000

[Term]
id: PBO:0084384
name: hyperphosphatasia with mental retardation syndrome
is_a: PBO:5000000

[Term]
id: PBO:0084385
name: hyperphosphatasia
is_a: PBO:5000000

[Term]
id: PBO:0084443
name: Treacher Collins syndrome
is_a: PBO:5000000

[Term]
id: PBO:0084444
name: ribosomopathy
is_a: PBO:5000000

[Term]
id: PBO:0084465
name: cerebellar atrophy
is_a: PBO:5000000

[Term]
id: PBO:0084469
name: Pompe disease
is_a: PBO:5000000

[Term]
id: PBO:0084473
name: anencephaly
is_a: PBO:5000000

[Term]
id: PBO:0084530
name: dyskeratosis congenita
is_a: PBO:5000000

[Term]
id: PBO:0084531
name: telomere syndromes
is_a: PBO:5000000

[Term]
id: PBO:0084537
name: encephalopathy
is_a: PBO:5000000

[Term]
id: PBO:0084540
name: Paroxysmal Nonkinesigenic Dyskinesia
is_a: PBO:5000000

[Term]
id: PBO:0084559
name: keratosis follicularis spinulosa decalvans X-linked
is_a: PBO:5000000

[Term]
id: PBO:0084561
name: maple syrup urine disease
is_a: PBO:5000000

[Term]
id: PBO:0084574
name: progressive myoclonus epilepsy
is_a: PBO:5000000

[Term]
id: PBO:0084597
name: Williams-Beuren syndrome
is_a: PBO:5000000

[Term]
id: PBO:0084616
name: Bowen-Conradi syndrome
is_a: PBO:5000000

[Term]
id: PBO:0084623
name: N-acetylglutamate synthetase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0084680
name: Epilepsy, early-onset, vitamin B6-dependent
is_a: PBO:5000000

[Term]
id: PBO:0084691
name: glutaric aciduria 2A
is_a: PBO:5000000

[Term]
id: PBO:0084694
name: Liddle syndrome
is_a: PBO:5000000

[Term]
id: PBO:0084728
name: optic neuropathy
is_a: PBO:5000000

[Term]
id: PBO:0084737
name: Alport syndrome
is_a: PBO:5000000

[Term]
id: PBO:0084753
name: ataxia-ocular apraxia type 2
is_a: PBO:5000000

[Term]
id: PBO:0084795
name: mitochondrial DNA depletion syndrome
is_a: PBO:5000000

[Term]
id: PBO:0084814
name: Christianson syndrome
is_a: PBO:5000000

[Term]
id: PBO:0084946
name: diffuse intrinsic pontine glioma
is_a: PBO:5000000

[Term]
id: PBO:0084949
name: mitochondrial complex V deficiency, nuclear 2
is_a: PBO:5000000

[Term]
id: PBO:0084950
name: heredopathia atactica polyneuritiformis
is_a: PBO:5000000

[Term]
id: PBO:0084962
name: non-syndromic X-linked intellectual disability
is_a: PBO:5000000

[Term]
id: PBO:0084963
name: arthritis
is_a: PBO:5000000

[Term]
id: PBO:0084971
name: microcephaly-capillary malformation syndrome (MICCAP)
is_a: PBO:5000000

[Term]
id: PBO:0085004
name: familial Kufor-Rakeb syndrome
is_a: PBO:5000000

[Term]
id: PBO:0085011
name: childhood-onset dystonia and optic atrophy
is_a: PBO:5000000

[Term]
id: PBO:0085070
name: Maroteaux-Lamy syndrome
is_a: PBO:5000000

[Term]
id: PBO:0085086
name: Uner Tan syndrome
is_a: PBO:5000000

[Term]
id: PBO:0085117
name: Diamond-Blackfan anemia
is_a: PBO:5000000

[Term]
id: PBO:0085194
name: aspirin-induced asthma
is_a: PBO:5000000

[Term]
id: PBO:0085221
name: nemaline myopathy
is_a: PBO:5000000

[Term]
id: PBO:0085261
name: lysosomal storage disorder
is_a: PBO:5000000

[Term]
id: PBO:0085307
name: hyperparathyroidism-jaw tumor syndrome
is_a: PBO:5000000

[Term]
id: PBO:0085312
name: muscle beta-enolase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0085328
name: hereditary nonpolyposis colorectal cancer
is_a: PBO:5000000

[Term]
id: PBO:0085369
name: xeroderma pigmentosum
is_a: PBO:5000000

[Term]
id: PBO:0085409
name: microvillus inclusion disease
is_a: PBO:5000000

[Term]
id: PBO:0085416
name: Barrett's oesophagus
is_a: PBO:5000000

[Term]
id: PBO:0085542
name: carbamoyl-phosphate synthetase I deficiency
is_a: PBO:5000000

[Term]
id: PBO:0085566
name: skin disorders
is_a: PBO:5000000

[Term]
id: PBO:0085567
name: xeroderma pigementosum, variant type
is_a: PBO:5000000

[Term]
id: PBO:0085624
name: Coffin-Lowry syndrome
is_a: PBO:5000000

[Term]
id: PBO:0085667
name: Alpers-Huttenlocher syndrome
is_a: PBO:5000000

[Term]
id: PBO:0085688
name: mercaptolactate-cysteine disulfiduria
is_a: PBO:5000000

[Term]
id: PBO:0085722
name: hypercholesterolemia
is_a: PBO:5000000

[Term]
id: PBO:0085723
name: paroxysmal nonkinesiogenic dyskinesia
is_a: PBO:5000000

[Term]
id: PBO:0085752
name: neuromyotonia
is_a: PBO:5000000

[Term]
id: PBO:0131440
name: spinocerebellar ataxia type 34
is_a: PBO:5000000

[Term]
id: PBO:0131441
name: spinocerebellar ataxia type 38
is_a: PBO:5000000

[Term]
id: PBO:0131466
name: spinocerebellar ataxia type 12
is_a: PBO:5000000

[Term]
id: PBO:0131479
name: photosensitive trichothiodystrophy
is_a: PBO:5000000

[Term]
id: PBO:0131497
name: Werdnig-Hoffmann disease
is_a: PBO:5000000

[Term]
id: PBO:0131499
name: Allan-Herndon-Dudley syndrome
is_a: PBO:5000000

[Term]
id: PBO:0131514
name: Wolcott-Rallison syndrome
is_a: PBO:5000000

[Term]
id: PBO:0131521
name: amyotrophic lateral sclerosis type 1
is_a: PBO:5000000

[Term]
id: PBO:0131538
name: pontocerebellar hypoplasia type 1B
is_a: PBO:5000000

[Term]
id: PBO:0131546
name: pontocerebellar hypoplasia type 2B
is_a: PBO:5000000

[Term]
id: PBO:0131553
name: amyotrophic lateral sclerosis type 14
is_a: PBO:5000000

[Term]
id: PBO:0131565
name: amyotrophic lateral sclerosis type 16
is_a: PBO:5000000

[Term]
id: PBO:0131566
name: autosomal recessive distal spinal muscular atrophy 2
is_a: PBO:5000000

[Term]
id: PBO:0131568
name: cardiac arrest
is_a: PBO:5000000

[Term]
id: PBO:0131575
name: long QT syndrome 14
is_a: PBO:5000000

[Term]
id: PBO:0131576
name: long QT syndrome 15
is_a: PBO:5000000

[Term]
id: PBO:0131577
name: pontocerebellar hypoplasia type 2E
is_a: PBO:5000000

[Term]
id: PBO:0131598
name: Galloway-Mowat syndrome 4
is_a: PBO:5000000

[Term]
id: PBO:0131656
name: Costello syndrome
is_a: PBO:5000000

[Term]
id: PBO:0131694
name: FTDALS2
is_a: PBO:5000000

[Term]
id: PBO:0131703
name: pontocerebellar hypoplasia type 10
is_a: PBO:5000000

[Term]
id: PBO:0131745
name: Bjornstad syndrome
is_a: PBO:5000000

[Term]
id: PBO:0131764
name: arterial calcification of infancy
is_a: PBO:5000000

[Term]
id: PBO:0131772
name: spinocerebellar ataxia type 26
is_a: PBO:5000000

[Term]
id: PBO:0131794
name: infantile cerebellar-retinal degeneration
is_a: PBO:5000000

[Term]
id: PBO:0131798
name: Seckel syndrome 10
is_a: PBO:5000000

[Term]
id: PBO:0131819
name: amyotrophic lateral sclerosis type 4
is_a: PBO:5000000

[Term]
id: PBO:0131834
name: striatonigral degeneration
is_a: PBO:5000000

[Term]
id: PBO:0131836
name: amyotrophic lateral sclerosis type 15
is_a: PBO:5000000

[Term]
id: PBO:0131863
name: mitochondrial DNA depletion syndrome 9
is_a: PBO:5000000

[Term]
id: PBO:0131882
name: dilated cardiomyopathy 1AA
is_a: PBO:5000000

[Term]
id: PBO:0131884
name: autosomal recessive spinocerebellar ataxia 21
is_a: PBO:5000000

[Term]
id: PBO:0131891
name: Ogden syndrome
is_a: PBO:5000000

[Term]
id: PBO:0131897
name: dilated cardiomyopathy 1GG
is_a: PBO:5000000

[Term]
id: PBO:0131899
name: hypertrophic cardiomyopathy 6
is_a: PBO:5000000

[Term]
id: PBO:0131900
name: neurodegeneration with brain iron accumulation 6
is_a: PBO:5000000

[Term]
id: PBO:0131905
name: Galloway-Mowat syndrome 2
is_a: PBO:5000000

[Term]
id: PBO:0131913
name: hypertrophic cardiomyopathy 10
is_a: PBO:5000000

[Term]
id: PBO:0131919
name: oculocutaneous albinism type IV
is_a: PBO:5000000

[Term]
id: PBO:0131930
name: spastic ataxia 3
is_a: PBO:5000000

[Term]
id: PBO:0131934
name: hereditary nonpolyposis colorectal cancer type 4
is_a: PBO:5000000

[Term]
id: PBO:0131941
name: adenine phosphoribosyltransferase deficiency
is_a: PBO:5000000

[Term]
id: PBO:0131942
name: autosomal dominant sensory ataxia 1
is_a: PBO:5000000

[Term]
id: PBO:0131959
name: multiple mitochondrial dysfunctions syndrome 3
is_a: PBO:5000000

[Term]
id: PBO:0131978
name: Brugada syndrome 2
is_a: PBO:5000000

[Term]
id: PBO:0131996
name: spinocerebellar ataxia type 17
is_a: PBO:5000000

[Term]
id: PBO:0132015
name: Nephronophthisis-like nephropathy 1
is_a: PBO:5000000

[Term]
id: PBO:0132020
name: amyotrophic lateral sclerosis type 11
is_a: PBO:5000000

[Term]
id: PBO:0132029
name: spastic ataxia 2
is_a: PBO:5000000

[Term]
id: PBO:0132036
name: neurodegeneration with brain iron accumulation 5
is_a: PBO:5000000

[Term]
id: PBO:0132085
name: Kufor-Rakeb syndrome
is_a: PBO:5000000

[Term]
id: PBO:0132110
name: hypertrophic cardiomyopathy 8
is_a: PBO:5000000

[Term]
id: PBO:0132133
name: Pendred Syndrome
is_a: PBO:5000000

[Term]
id: PBO:0132167
name: amyotrophic lateral sclerosis type 22
is_a: PBO:5000000

[Term]
id: PBO:0132182
name: pontocerebellar hypoplasia type 9
is_a: PBO:5000000

[Term]
id: PBO:0132193
name: spastic ataxia 4
is_a: PBO:5000000

[Term]
id: PBO:0132219
name: UV-sensitive syndrome
is_a: PBO:5000000

[Term]
id: PBO:0132222
name: oculocerebrorenal syndrome
is_a: PBO:5000000

[Term]
id: PBO:0132239
name: Seckel syndrome 1
is_a: PBO:5000000

[Term]
id: PBO:0132243
name: spinocerebellar ataxia type 36
is_a: PBO:5000000

[Term]
id: PBO:0132270
name: multiple mitochondrial dysfunctions syndrome 1
is_a: PBO:5000000

[Term]
id: PBO:0132287
name: Warburg micro syndrome 4
is_a: PBO:5000000

[Term]
id: PBO:0132290
name: Arts syndrome
is_a: PBO:5000000

[Term]
id: PBO:0132291
name: Charcot-Marie-Tooth disease X-linked recessive 5
is_a: PBO:5000000

[Term]
id: PBO:0132303
name: autosomal recessive spinocerebellar ataxia 10
is_a: PBO:5000000

[Term]
id: PBO:0132311
name: dilated cardiomyopathy 1R
is_a: PBO:5000000

[Term]
id: PBO:0132312
name: hypertrophic cardiomyopathy 11
is_a: PBO:5000000

[Term]
id: PBO:0132313
name: atrial heart septal defect 5
is_a: PBO:5000000

[Term]
id: PBO:0132333
name: spinocerebellar ataxia type 2
is_a: PBO:5000000

[Term]
id: PBO:0132384
name: autosomal recessive spinocerebellar ataxia 2
is_a: PBO:5000000

[Term]
id: PBO:0132402
name: MEHMO syndrome
is_a: PBO:5000000

[Term]
id: PBO:0132419
name: hyperprolinemia type 1
is_a: PBO:5000000

[Term]
id: PBO:0132421
name: Lynch syndrome 1
is_a: PBO:5000000

[Term]
id: PBO:0132448
name: Antley-Bixler syndrome
is_a: PBO:5000000

[Term]
id: PBO:0132455
name: pontocerebellar hypoplasia type 6
is_a: PBO:5000000

[Term]
id: PBO:0132461
name: dilated cardiomyopathy 1II
is_a: PBO:5000000

[Term]
id: PBO:0132480
name: pontocerebellar hypoplasia type 2C
is_a: PBO:5000000

[Term]
id: PBO:0132505
name: Griscelli syndrome type 1
is_a: PBO:5000000

[Term]
id: PBO:0132514
name: nonphotosensitive trichothiodystrophy
is_a: PBO:5000000

[Term]
id: PBO:0132528
name: macrocephaly-autism syndrome
is_a: PBO:5000000

[Term]
id: PBO:0132531
name: craniolenticulosutural dysplasia
is_a: PBO:5000000

[Term]
id: PBO:0132573
name: autosomal recessive spinocerebellar ataxia 25
is_a: PBO:5000000

[Term]
id: PBO:0132578
name: early-onset Parkinson's disease 20
is_a: PBO:5000000

[Term]
id: PBO:0132587
name: Galloway-Mowat syndrome 3
is_a: PBO:5000000

[Term]
id: PBO:0132588
name: Seckel syndrome 8
is_a: PBO:5000000

[Term]
id: PBO:0132612
name: autosomal recessive early-onset Parkinson's disease 23
is_a: PBO:5000000

[Term]
id: PBO:0132639
name: combined oxidative phosphorylation deficiency
is_a: PBO:5000000

[Term]
id: PBO:0132643
name: multiple mitochondrial dysfunctions syndrome 4
is_a: PBO:5000000

[Term]
id: PBO:0132647
name: mandibulofacial dysostosis, Guion-Almeida type
is_a: PBO:5000000

[Term]
id: PBO:0132668
name: amyotrophic lateral sclerosis type 8
is_a: PBO:5000000

[Term]
id: PBO:0132677
name: spastic ataxia 5
is_a: PBO:5000000

[Term]
id: PBO:0132678
name: spinocerebellar ataxia type 28
is_a: PBO:5000000

[Term]
id: PBO:0132697
name: pontocerebellar hypoplasia type 5
is_a: PBO:5000000

[Term]
id: PBO:0132698
name: pontocerebellar hypoplasia type 2A
is_a: PBO:5000000

[Term]
id: PBO:0132699
name: pontocerebellar hypoplasia type 4
is_a: PBO:5000000

[Term]
id: PBO:0132738
name: autosomal dominant cerebellar ataxia, deafness and narcolepsy
is_a: PBO:5000000

[Term]
id: PBO:0132741
name: spinocerebellar ataxia type 1 with axonal neuropathy
is_a: PBO:5000000

[Term]
id: PBO:0132760
name: Li-Fraumeni syndrome
is_a: PBO:5000000

[Term]
id: PBO:0132774
name: Galloway-Mowat syndrome 5
is_a: PBO:5000000

[Term]
id: PBO:0132805
name: multiple mitochondrial dysfunctions syndrome 5
is_a: PBO:5000000

[Term]
id: PBO:0132806
name: dilated cardiomyopathy 1S
is_a: PBO:5000000

[Term]
id: PBO:0132807
name: dilated cardiomyopathy 1EE
is_a: PBO:5000000

[Term]
id: PBO:0132808
name: hypertrophic cardiomyopathy 1
is_a: PBO:5000000

[Term]
id: PBO:0132809
name: hypertrophic cardiomyopathy 14
is_a: PBO:5000000

[Term]
id: PBO:0132810
name: atrial heart septal defect 3
is_a: PBO:5000000

[Term]
id: PBO:0132811
name: Carney complex
is_a: PBO:5000000

[Term]
id: PBO:0132821
name: Seckel syndrome 2
is_a: PBO:5000000

[Term]
id: PBO:0132840
name: spinocerebellar ataxia type 10
is_a: PBO:5000000

[Term]
id: PBO:0132846
name: Parkinson's disease 17
is_a: PBO:5000000

[Term]
id: PBO:0132850
name: atrial heart septal defect 9
is_a: PBO:5000000

[Term]
id: PBO:0132876
name: hereditary nonpolyposis colorectal cancer type 5
is_a: PBO:5000000

[Term]
id: PBO:0132882
name: autosomal recessive distal spinal muscular atrophy 1
is_a: PBO:5000000

[Term]
id: PBO:0132887
name: Galloway-Mowat syndrome
is_a: PBO:5000000

[Term]
id: PBO:0132900
name: spinocerebellar ataxia type 7
is_a: PBO:5000000

[Term]
id: PBO:0132906
name: mitochondrial DNA depletion syndrome 5
is_a: PBO:5000000

[Term]
id: PBO:0132923
name: schizophrenia 4
is_a: PBO:5000000