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created: 2019-04-01T11:08:54.148+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Familial Mediterranean fever, AD
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.149+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MEFV

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created: 2019-04-01T11:08:54.149+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Holoprosencephaly 4
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.150+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TGIF1

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created: 2019-04-01T11:08:54.151+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Rubinstein-Taybi syndrome 1
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.151+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CREBBP

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created: 2019-04-01T11:08:54.152+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Trichodontoosseous syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.153+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DLX3

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created: 2019-04-01T11:08:54.153+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cardiomyopathy, familial hypertrophic
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.154+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CAV3

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created: 2019-04-01T11:08:54.155+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Glycogen storage disease Ib
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.155+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC37A4

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created: 2019-04-01T11:08:54.156+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mitochondrial complex 1 deficiency
type: C4873
type: DOID_0050177
label: Mitochondrial complex I deficiency

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has assertion: assertion
has provenance: provenance
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created: 2019-04-01T11:08:54.156+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NDUFAF5

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type: Nanopublication
created: 2019-04-01T11:08:54.157+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAUw-USFUhBS1216RI3CzNWn5X0sbfxcoMWbGcpfUkNdM
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created: 2019-04-01T11:08:54.158+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NDUFA11

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Multiple pterygium syndrome, lethal type
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.159+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CHRND

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created: 2019-04-01T11:08:54.160+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAV19inRZ -NjrkL1FmJ9YVEK4K4MuIhKs7Vc7UCvEfMY
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created: 2019-04-01T11:08:54.160+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CHRNA1

RACyU5qyJksSaH4hpggfNH3GiE TLqvqxo9J0kswGm2oU
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created: 2019-04-01T11:08:54.161+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pituitary hormone deficiency, combined, 4
type: C4873
type: DOID_0050177

RARSKsQP9FQjeNvOahNNoc3FiBRvDeMn5fE Hom -cDP0
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created: 2019-04-01T11:08:54.162+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LHX4

RAZNJKx0S8MCnf2DNbPGeGe0YLQqbxU770Yug oqidYD0
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created: 2019-04-01T11:08:54.162+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cholesteryl ester storage disease
type: C4873
type: DOID_0050177
label: Wolman disease

RA61QbXkgndBhKRFVWH r29LOWnhxF5dsWBkK5LzMPMtk
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created: 2019-04-01T11:08:54.163+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LIPA

RAREEaIHxAMekOmluDDlT-pfIfx1cafR415Wi1ba2Hyys
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has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.163+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAxHI8nwEgdxbhi5-czyAxX4QGjRS7sgi6yxcpYmuGvNU
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created: 2019-04-01T11:08:54.164+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAI P3AHqnPlj3Zq0ThosarW6aBA448u8imc LytUTG8Y
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type: Nanopublication
created: 2019-04-01T11:08:54.165+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Dent disease
type: C4873
type: DOID_0050177

RAQmEiLyPyopjyOn08ESq3yCpRsl6eSYFbT-X-DwUr4fU
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created: 2019-04-01T11:08:54.165+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CLCN5

RAjdL4QQza5MOcb auLzXuGNbhAhWk2ghkkbc-wrTX5So
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created: 2019-04-01T11:08:54.166+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cleft palate with ankyloglossia
type: C4873
type: DOID_0050177

RAJxbYbe-bJ5pAr1Nm4teiHqv7eLcQh7SaJr4iNR5xPJ4
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has provenance: provenance
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created: 2019-04-01T11:08:54.167+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TBX22

RA7Rsb1f1LMXPrdFnGCqhqPPWwwQ7ySuNqqdkKrcUknc0
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created: 2019-04-01T11:08:54.167+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CHILD syndrome
type: C4873
type: DOID_0050177

RA9UTyMtfreSBU7ph7288qNhtbLUXwcOJqiBRUdhFB9cg
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.168+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NSDHL

RAmu31rboXkNGmvKkhaWwyCNWEVaGectVvfK3vLvkWosQ
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created: 2019-04-01T11:08:54.169+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

46XY sex reversal 1
type: C4873
type: DOID_0050177

RAf3LG6zuURV1Gs jP4N5f8ASN4I6lbGUoAZ9f4vvCu s
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.170+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SRY

RARDlUR4eEgL08-5HPSJMWYIgRKb6-5G6i2-uVM95caI8
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created: 2019-04-01T11:08:54.171+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

46XX sex reversal 1
type: C4873
type: DOID_0050177

RAgm -k EyR7HxI1 Y9VIb8f0P2 Kh5iGFqi76eYTPBfs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.172+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA0DDfvqwlQZu827qFRnEokjSkV9fkWbsWJaQdfl8gVdg
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created: 2019-04-01T11:08:54.172+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Retinitis pigmentosa 11
type: C4873
type: DOID_0050177

RAWwQZQrFsdcqjv08nUB1lMCd3kAp6BYykZ0Iq5ZZ1kUA
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created: 2019-04-01T11:08:54.173+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PRPF31

RApPKWsJHzArL5MynVOjnkObcQPfPTkHVk7t9s1vwsZgE
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created: 2019-04-01T11:08:54.174+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Progressive familial heart block, type IB
type: C4873
type: DOID_0050177

RA1LVUqn-8nuI 2nb2mXBa5TJ-0H2tcCE5UzIPo1YuN8s
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created: 2019-04-01T11:08:54.174+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TRPM4

RAgWhO6WwakcmVSGVW59jSHJhoYhd4Y5uoVqHP25U uWA
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created: 2019-04-01T11:08:54.175+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Myopathy, myosin storage, autosomal dominant
type: C4873
type: DOID_0050177

RAQQG4lFWEM8QAXV1uVu5UqcvzCmIAM cu8dcOTkkF2BU
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has provenance: provenance
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created: 2019-04-01T11:08:54.176+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MYH7

RAgrFY9Y58jihW3D6ZhFhtGM-98ImGL2gf8Gws2rP90Oo
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created: 2019-04-01T11:08:54.176+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ciliary dyskinesia, primary, 9, with or without situs inversus
type: C4873
type: DOID_0050177

RARpj1r5Dx00HALV2g1MJKm0ukyRZf3vZeiu63hGDt2V8
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has provenance: provenance
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created: 2019-04-01T11:08:54.177+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DNAI2

RAvHugqnFQyV z9N3JDeESNqr0e-hD0W2v1sxL-rP9Rjw
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created: 2019-04-01T11:08:54.178+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Barber-Say syndrome
type: C4873
type: DOID_0050177

RAso5MhRMMijGe10B1kiIC5fzoYXI5ou7dnu5h3iQX75s
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created: 2019-04-01T11:08:54.178+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TWIST2

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created: 2019-04-01T11:08:54.179+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Shprintzen-Goldberg syndrome
type: C4873
type: DOID_0050177

RAZG8tbO3B8018ssL2HsFXqxDxv0j2PRPVGCIS6z3dQfc
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created: 2019-04-01T11:08:54.179+02:00
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created by: http://orcid.org/0000-0001-7542-0286
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SKI

RA5QhnUNUhhmgHoEfGRM6OpRwdu0HBZwrzn6Ufk6cR-ow
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created: 2019-04-01T11:08:54.181+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Keratosis palmoplantaris striata I, AD
type: C4873
type: DOID_0050177

RAJzwyCJDgcANCL41YEVVErZKKEZfJ6mbYZfxfY9OegoU
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created: 2019-04-01T11:08:54.181+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DSG1

RA42bwsNdPYR1eek6UIZ4jOcUm0040e9aoF6 uryqXG04
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created: 2019-04-01T11:08:54.182+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cholestasis, progressive familial intrahepatic 1
type: C4873
type: DOID_0050177

RAzyQOFleIpzQXD 9xnrwh9tYJOHnO5L46Ks5TtOdaJVE
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has provenance: provenance
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created: 2019-04-01T11:08:54.183+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ATP8B1

RAKymv45lbK1SJGhLtH02yi0VM9h4JcGfMaiw3WWGuTrc
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created: 2019-04-01T11:08:54.183+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Porphyria variegata
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.184+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PPOX

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created: 2019-04-01T11:08:54.185+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Long QT syndrome 1
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.185+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KCNQ1

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created: 2019-04-01T11:08:54.186+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mucopolysaccharidosis type IIIB (Sanfilippo B)
type: C4873
type: DOID_0050177

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has publication info: pubinfo
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created: 2019-04-01T11:08:54.187+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NAGLU

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created: 2019-04-01T11:08:54.187+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Becker muscular dystrophy
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.188+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DMD

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created: 2019-04-01T11:08:54.188+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Coloboma, ocular, autosomal recessive
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.189+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SALL2

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created: 2019-04-01T11:08:54.190+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Complement factor B deficiency
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.190+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CFB

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created: 2019-04-01T11:08:54.191+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.192+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

B3GALT6

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created: 2019-04-01T11:08:54.192+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Yunis-Varon syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.193+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FIG4

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created: 2019-04-01T11:08:54.193+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Osteogenesis imperfecta, type XIV
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.194+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TMEM38B

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created: 2019-04-01T11:08:54.195+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Osteogenesis imperfecta, type V
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.195+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

IFITM5

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created: 2019-04-01T11:08:54.196+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spinal muscular atrophy with progressive myoclonic epilepsy
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.197+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ASAH1

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created: 2019-04-01T11:08:54.197+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Baraitser-Winter syndrome 1
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.198+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ACTB

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created: 2019-04-01T11:08:54.199+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Osteogenesis imperfecta, type XIII
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.199+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BMP1

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created: 2019-04-01T11:08:54.200+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cranioectodermal dysplasia 1
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.200+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

IFT122

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created: 2019-04-01T11:08:54.201+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cardiofaciocutaneous syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.202+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BRAF

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created: 2019-04-01T11:08:54.202+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Frasier syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.203+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

WT1

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created: 2019-04-01T11:08:54.204+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Neuropathy, inflammatory demyelinating
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.204+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PMP22

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created: 2019-04-01T11:08:54.205+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Muscular dystrophy, limb-girdle, type 1A
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.206+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MYOT

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created: 2019-04-01T11:08:54.206+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Porphyria, acute intermittent
type: C4873
type: DOID_0050177
label: Porphyria, acute intermittent, nonerythroid variant

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created: 2019-04-01T11:08:54.207+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HMBS

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type: Nanopublication
created: 2019-04-01T11:08:54.207+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created: 2019-04-01T11:08:54.208+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAqtcXJAdL4dyrCa501ieQD0TtkHrVUsnzz9Hd8hKTVqQ
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created: 2019-04-01T11:08:54.209+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Wilms tumor, type 1
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.209+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAyfnkiin5H7vRub5Kzw3LuFOti-yVqZ 5cwQlMlufDBE
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created: 2019-04-01T11:08:54.210+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Bowen-Conradi syndrome
type: C4873
type: DOID_0050177

RAm5hbGTzutWkRv Qy8MECGvGBeMfPZ1j3Jd7-sOIkjYw
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has provenance: provenance
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created: 2019-04-01T11:08:54.211+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

EMG1

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created: 2019-04-01T11:08:54.211+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Peroxisome biogenesis disorder 1A (Zellweger)
type: C4873
type: DOID_0050177

RAgLATo61Elzunr05grlEonB0WtlRWyN8Tew1CQnUXXtQ
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created: 2019-04-01T11:08:54.212+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PEX1

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created: 2019-04-01T11:08:54.214+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Enterokinase deficiency
type: C4873
type: DOID_0050177

RAP-2E9kGIL2W9J6Apoou0ivSuUCQdNviYauKYN6M-oYc
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has provenance: provenance
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created: 2019-04-01T11:08:54.214+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TMPRSS15

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created: 2019-04-01T11:08:54.215+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Galactose epimerase deficiency
type: C4873
type: DOID_0050177

RAXfE35fCT97MneLy0fXLdYDN1zcztdAfjIcxOAbaNAis
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.216+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GALE

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created: 2019-04-01T11:08:54.216+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAD0oZ ASaDvuNnljBrUZMHQWk33IEQPnaeR3TC- Due4
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created: 2019-04-01T11:08:54.217+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NDUFAF4

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type: Nanopublication
created: 2019-04-01T11:08:54.218+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created: 2019-04-01T11:08:54.219+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NDUFAF3

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created: 2019-04-01T11:08:54.220+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Niemann-Pick disease, type C1
type: C4873
type: DOID_0050177
label: Niemann-Pick disease, type D

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:54.221+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NPC1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.221+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Thyroid dyshormonogenesis 2A
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.222+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TPO

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.222+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

McLeod syndrome with or without chronic granulomatous disease
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.223+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

XK

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.224+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Opitz-Kaveggia syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.224+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MED12

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created: 2019-04-01T11:08:54.225+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hemophilia B
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.226+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

F9

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.226+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Menkes disease
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.227+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ATP7A

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has provenance: provenance
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created: 2019-04-01T11:08:54.228+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Rett syndrome
type: C4873
type: DOID_0050177
label: Rett syndrome, atypical
label: Rett syndrome, preserved speech variant

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:54.228+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MECP2

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has provenance: provenance
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created: 2019-04-01T11:08:54.229+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.229+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.230+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.230+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.231+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CARASIL syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.232+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HTRA1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.232+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Deafness, autosomal dominant 6/14/38
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.233+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

WFS1

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has provenance: provenance
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created: 2019-04-01T11:08:54.233+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Supranuclear palsy, progressive
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.234+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MAPT

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.234+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome
type: C4873
type: DOID_0050177

RAP EejBnGszsOhWGuoa2FV27jBpAh30Omvfdyj57vhGg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.235+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LIFR

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.236+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Speech-language disorder-1
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.236+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FOXP2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.237+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pseudohypoparathyroidism, type IB
type: C4873
type: DOID_0050177

RAMyu Jzm8Zg5R5inWq17AOWleeMA7uRbRTKYhoRezclU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.237+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GNAS-AS1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.238+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Omenn syndrome
type: C4873
type: DOID_0050177

RACjQBjiTuzV0fQpLVybnLfZ1FTfqSgkbi7MIdCtRSiVA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.238+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAG1

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.239+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Propionicacidemia
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.239+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PCCB

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.240+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mucopolysaccharidosis Ih/s
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.240+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

IDUA

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.241+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mucopolysaccharidosis Is
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.241+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAzkPMmCZXL8SQZEqetIKwNHhGlV6u7OQZzjtBzN9Jjq4
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.242+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Orofaciodigital syndrome IV
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.242+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TCTN3

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.243+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Fleck retina, familial benign
type: C4873
type: DOID_0050177

RAI3rkC9R3kvjr5WUtwtApo3fEaDAaeIrTuMqq3 M1oHU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.244+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PLA2G5

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.244+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Narcolepsy 7
type: C4873
type: DOID_0050177

RAEf87Cg7QLXcaJGUjwcXnISkGRdc7EIscHTtuAbSZCcc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.245+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MOG

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.245+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypotrichosis 8
type: C4873
type: DOID_0050177
label: Woolly hair, autosomal recessive 1, with or without hypotrichosis

RAZ3u 9YIVQuKHvwhEPoNlhcKz 95P7w8DjwRLS5dyfIE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.246+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LPAR6

RAJZhWXCOgpyIY5GkjrtBonbtVfKLCqbWp4h FAeB4y1s
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.246+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAHZOLw3dnRMMYEnykizu1ZSI7Ol9dCtWNPXuYxSgthVc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.247+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAb 0kD6Ey1of2xk0lWTUZwiGt3H2adgmdXohFhtbIGq8
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.247+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Methylmalonyl-CoA epimerase deficiency
type: C4873
type: DOID_0050177

RAzk1X50cRhORghBjoY4zFj7vnx9YIcBbpfRTyqO-B0hI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.248+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MCEE

RA wSD3H4TzX-UFS4dQemCtkWYhMJ0lFPgvGtsQCMXn8A
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.248+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Gaze palsy, horizontal, with progressive scoliosis
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.249+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ROBO3

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Atrial standstill, digenic (GJA5/SCN5A)
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.250+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GJA5

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created: 2019-04-01T11:08:54.251+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Epidermolysis bullosa, generalized atrophic benign
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.251+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LAMA3

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created: 2019-04-01T11:08:54.252+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pseudoxanthoma elasticum, forme fruste
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.253+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ABCC6

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created: 2019-04-01T11:08:54.253+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created: 2019-04-01T11:08:54.254+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.254+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created: 2019-04-01T11:08:54.255+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created: 2019-04-01T11:08:54.256+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Myokymia
type: C4873
type: DOID_0050177
label: Seizures, benign neonatal, 1

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created: 2019-04-01T11:08:54.256+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KCNQ2

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created: 2019-04-01T11:08:54.257+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAgYBIPelSYF8CBg5swcZ0yHYH4tRrhWXSJ LytgBu4YA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.257+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA6VFtAwNLOWv 87Lb0ImuoCZuAR1roXapdj1pf2UkytM
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created: 2019-04-01T11:08:54.258+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Sialidosis, type I
type: C4873
type: DOID_0050177
label: Sialidosis, type II

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has provenance: provenance
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created: 2019-04-01T11:08:54.258+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NEU1

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created: 2019-04-01T11:08:54.259+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAk4mrGSYSrvNDoBX3 Lt1LQQ5l16rhASa1J1e4kRgi54
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.259+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAbsRoJTbkuvXxgLGALCqmHPYXKJUh7HsK3PSgrpQ1Tas
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created: 2019-04-01T11:08:54.260+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Bartter syndrome, type 1
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.260+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC12A1

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type: Nanopublication
created: 2019-04-01T11:08:54.261+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypochondroplasia
type: C4873
type: DOID_0050177

RAKc1Oro1GJspRQT1n1v5UE9e5Gy7F6QT272wTTWA0MJ0
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created: 2019-04-01T11:08:54.261+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FGFR3

RA1E0PlglgZLNhkDiw07Ba5tzquBa BCCSy LOB-6VM14
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type: Nanopublication
created: 2019-04-01T11:08:54.262+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Glucocorticoid deficiency, due to ACTH unresponsiveness
type: C4873
type: DOID_0050177

RAamwTdSefsX46QvUIIkPfL-228lCKh8AG1jTmNbIgZn0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.263+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MC2R

RAVbvuZaAwtmmC0WigAtZO8r3bCfRfdhDbb z c8tZCT0
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.264+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAmcFmcBA-k4r7gItsflMGI5jqkyy3yQjQ9h5EMeyMJOA
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.264+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA7X5thHq-sH -UNH7KOtcSI7ynLJuwoHPttOVANNcRiU
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created: 2019-04-01T11:08:54.265+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Diastrophic dysplasia
type: C4873
type: DOID_0050177
label: Diastrophic dysplasia, broad bone-platyspondylic variant

RA Zhy9hY0eku0bws BwxE5RNkaGCgqepMgVJitB0t2Eo
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has provenance: provenance
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created: 2019-04-01T11:08:54.265+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC26A2

RA7dxDCJfH7uaDI6HCM0kK6c4Wp9KRcLarXJQSGr69tXM
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.266+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RApwEKbL4WUi6SAQVXR3cMA9PQixfP0YeEWW yCNVLnW8
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has provenance: provenance
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created: 2019-04-01T11:08:54.266+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAed3tbqiPyyAMV4H5D3YAwxcWwsW7TzW4U6BIt8yWCw0
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created: 2019-04-01T11:08:54.267+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Porphyria, congenital erythropoietic
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.268+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

UROS

RAvMPEFjVLe1AyqE9U2QMPEGWMoUi6AlGW-m0ek3JAsAQ
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has provenance: provenance
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created: 2019-04-01T11:08:54.268+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Analbuminemia
type: C4873
type: DOID_0050177

RA3csBfsoISmueSMfHknJLOpS2r6BC9tNEysZ-vn0YU9I
has assertion: assertion
has provenance: provenance
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created: 2019-04-01T11:08:54.269+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ALB

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has provenance: provenance
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created: 2019-04-01T11:08:54.269+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spondylometaphyseal dysplasia, Sedaghatian type
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.270+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GPX4

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has provenance: provenance
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created: 2019-04-01T11:08:54.271+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pseudohyperkalemia, familial, 2, due to red cell leak
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.271+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ABCB6

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created: 2019-04-01T11:08:54.272+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Dyskinesia, familial, with facial myokymia
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.272+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ADCY5

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created: 2019-04-01T11:08:54.273+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Auriculocondylar syndrome 1
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.274+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GNAI3

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created: 2019-04-01T11:08:54.274+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Junior blood group system
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.275+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ABCG2

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created: 2019-04-01T11:08:54.276+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA2O-r-pG6h3BM7w6qA0mVuCciqjeHmE6LNv-PQmvTTaQ
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created: 2019-04-01T11:08:54.276+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FOXRED1

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created by: http://orcid.org/0000-0001-7542-0286
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RAs27faorCkJks1FHDsrFaYbMPZjSxUs1p6fyWG8-5KVA
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created: 2019-04-01T11:08:54.277+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NUBPL

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created: 2019-04-01T11:08:54.278+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ehlers-Danlos syndrome, musculocontractural type 1
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.279+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CHST14

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created: 2019-04-01T11:08:54.279+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Failure of tooth eruption, primary
type: C4873
type: DOID_0050177

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type: Nanopublication
created: 2019-04-01T11:08:54.280+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PTH1R

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.281+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Exostoses, multiple, type 1
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.281+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

EXT1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.282+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Perry syndrome
type: C4873
type: DOID_0050177

RAlbMNXvYoYo3cXadjqd C8PJ-ZicPIiP2mpZ7QWIcqfA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.282+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DCTN1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.283+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Snowflake vitreoretinal degeneration
type: C4873
type: DOID_0050177

RAKzOsQWMvmZfhyiZcjHa1vKh01TkrOJ8EbNkPm-ZY4kE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.284+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KCNJ13

RAN5-F9JFvE6fWeLuHWD2TUPZVfAFidef1Tlr4Xaziu6A
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.284+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Choreoacanthocytosis
type: C4873
type: DOID_0050177

RAmZVLUm13O52rNBfvvvPL6PlL9UyJc2lWAYHoRrG3dK8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.285+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

VPS13A

RAKbcrREKBfrFbg-pXDaoKY2AhPa5nbnIERKP2pPatwcI
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.286+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Johanson-Blizzard syndrome
type: C4873
type: DOID_0050177

RASoK3vobwmellUp1FoJn-JNh6PTIc0zyT865tZdl6 o
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.287+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

UBR1

RAziV33UIfDCjsHBOnV1qUIA3WWcDrlR6A9FwdvS2zawk
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.288+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAfMhx6spwcOANgLKsNp60mZE40gh01vF-fWA6mqZm6iU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.289+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAuo5PvmAV3TgfPMSHqiMrlr2ZuS9E7ZO Y-SmSUnxsVU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.289+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Rabson-Mendenhall syndrome
type: C4873
type: DOID_0050177

RA5hXZgzmq7GNjaUPuAxGobwN66me2O7dy20ACQx8g79s
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.290+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

INSR

RAl1mu46RrbnRthxpTbMihDmzZZMsR3hf5UIsM8EL7Rdc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.291+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Smith-Lemli-Opitz syndrome
type: C4873
type: DOID_0050177

RAyJDZpURfLS1wBagab92GtkQqzlh5iVIgcLF9c6sfdGg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.291+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DHCR7

RAjqmGzkAYVsaB-ALj8BFLiX5e57loYSO9pMWJW3ojMdU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.292+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA8WXG8J706imNHjyLWLnu9d1vgbndNf9VKoTcJ07HTsY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.293+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAR7Aw V7VQtddPW6C5ULb0HdBGSnFlqFKtBGLbLpQWLM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.294+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Frontometaphyseal dysplasia 1
type: C4873
type: DOID_0050177

RATfL0KI2Ib2ovAyyuFzjwoZ2LNfC-oJnBcJ7tdKza0uI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.294+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FLNA

RA7MgyVXSYaWoU2dcDHijOdRU62Rli1v5wFluKrjemZ0k
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.295+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mental retardation, X-linked, Snyder-Robinson type
type: C4873
type: DOID_0050177

RAba34duzDCv6vX18SSJSJpo5CiUn5t6cc0lOtR9VMT-w
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.296+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SMS

RAKDTbzotMu1wkSv5zWBkjzWO0gZ2bum0Eh XTwzT6o3w
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.298+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Blood group--Lutheran inhibitor
type: C4873
type: DOID_0050177

RAAdvzPu9ftyptHTUEQt6An26QXfNxNBQDIYhEhc0LWWQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.299+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KLF1

RAH7upjWlfup1GlQNTKuE1BCokOKGeW4kjLo8GklMlVZY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.299+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Microcephalic osteodysplastic primordial dwarfism, type II
type: C4873
type: DOID_0050177

RA4QkioLK97icguA9CYk32QfxB3tHf98l2nTmd-MVUUFc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.300+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PCNT

RAb-mf8FO5HdOz78ETEz4fjENqmI6pgpmaHZCl yA 7EM
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.301+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Trismus-pseudocamptodactyly syndrome
type: C4873
type: DOID_0050177

RAFZsDR465faLvamL35HNru55-UK7MRhCBg6SH2X8m-Nc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.301+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MYH8

RABmdPdop5lPD1dMY0Yp5reXZyaRHlk3Fvwy-UZeagLKs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.302+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
type: C4873
type: DOID_0050177

RAqJGb MmHv6ZzTwEyodBArIVoojAEsUt-H7SQFDreRiA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.302+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CYP11B1

RAUr Dr1mdF42tKEjeWc t81qnPOR14vJbsmr2zOHThN4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.303+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Chronic granulomatous disease, X-linked
type: C4873
type: DOID_0050177

RAWNsmuTTiv1xLtQpaQ8qN1 ZTdCwHJnZkJB5IV1FwK8M
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.304+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CYBB

RA3ILdVlwPHZPwrCTglcgvaf0zR4df0scT63PqvstI4gE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.305+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pigmentary disorder, reticulate, with systemic manifestations, X-linked
type: C4873
type: DOID_0050177

RAvCjvMOL4K9aYmFeM6k8YZE9vd2-9Mm6id5kozPj9f18
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.305+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

POLA1

RA-BVYbmGJuFNqPFdaTnA28O-XNg2jFQ3XuFFypkGFqO4
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.306+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Scalp-ear-nipple syndrome
type: C4873
type: DOID_0050177

RAS1z6bDyWVPmgn0KET7DWEVfePs7lQ9BRnP74ikMpl98
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.307+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KCTD1

RAjvYjsh0ZXdLUHdscLbghjxo2f3RMIWxD7rBXLZlKzog
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.308+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Facial clefting, oblique, 1
type: C4873
type: DOID_0050177

RA4kDUi3SvRQZoyNocSoAmk5t4-5p--BClwNleJMQgGcE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.309+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SPECC1L

RAneqR4-R5VWzBT w6sKDCf6d-jZzXDUMAvnwTSuEQyNE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.309+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Manitoba oculotrichoanal syndrome
type: C4873
type: DOID_0050177

RAJQwNsoyfPGCNd40mhRhOqtx9qJbP3cpM QA02xW4iDo
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.310+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FREM1

RASzimrAlERwE-9MeX80xamA9 EMW 2lf7n82uTtMXem4
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.311+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
type: C4873
type: DOID_0050177

RAEc4ltpqmzAkBiEDuMotAWWLaM9ET Ez5VZXh5jlbOnA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.311+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TMCO1

RA2a4NzPFR-D9IJ8IltvMtvoZ 9gQw1wOaK-DE0a4 7w
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.312+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypertension and brachydactyly syndrome
type: C4873
type: DOID_0050177

RAe0OTqg8UYuhfQLWIOtkEXrkD6Q6VR1ssuDic247VbJ4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.312+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PDE3A

RA-FDA3kgIrZ5mCdUkOQux4LK-P6ho7uF-oOtZ9k8QHjM
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.313+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Burkitt lymphoma
type: C4873
type: DOID_0050177

RAnSKWoBBLdWfKrZT-tDxfUo9hhU9AqlwwgKccQH5JKFA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.314+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MYC

RAcct7ZPeHuKJ34A9SZdIrUaYorUIGCap3rgk4IKpWNKc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.314+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Chorea, hereditary benign
type: C4873
type: DOID_0050177

RAZhjieJiQdkEsWSqGj6Qf-biN8KcEzn4TZifpWlRgvnk
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.315+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NKX2-1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.316+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Orofacial cleft 8
type: C4873
type: DOID_0050177
label: Rapp-Hodgkin syndrome

RA dCqKIzTM8jdr7SlVvJ6R6F3C-ZfttK8ITQ9U2sIMUs
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.316+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TP63

RAWoEvLRynDACM5hnIBCfwe3BB94RUTMAcX2HUAoSHzY0
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.317+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAdVrjOZMefyW-Adf1GwJBGMlpn204qS7dM8UMdLwsshE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.317+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created: 2019-04-01T11:08:54.318+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypophosphatasia, adult
type: C4873
type: DOID_0050177
label: Odontohypophosphatasia

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has provenance: provenance
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created: 2019-04-01T11:08:54.319+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ALPL

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.319+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.320+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.320+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hyperekplexia, hereditary 1, autosomal dominant or recessive
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.321+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GLRA1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.322+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Gnathodiaphyseal dysplasia
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.323+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ANO5

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.324+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypophosphatasia, childhood
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.324+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.325+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Haim-Munk syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.325+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CTSC

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has provenance: provenance
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created: 2019-04-01T11:08:54.326+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Maple syrup urine disease, type Ia
type: C4873
type: DOID_0050177
label: Maple syrup urine disease, type Ib, 248
label: Maple syrup urine disease, type II

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.327+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BCKDHA

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.327+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Anemia, hemolytic, Rh-null, regulator type
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.328+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RHAG

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has provenance: provenance
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created: 2019-04-01T11:08:54.328+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Sea-blue histiocyte disease
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.329+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

APOE

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.330+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Troyer syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.330+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SPART

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.331+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HPRT-related gout
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.331+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HPRT1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.332+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mental retardation, with or without nystagmus
type: C4873
type: DOID_0050177
label: FG syndrome 4

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.332+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CASK

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.333+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA74tfJ1nVKldNzZt4YvH RxOC8YaJnFxu9vuRTQFGF-A
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.333+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RALjG5-rxYUnETKC2DsEp3tN3B9iVOU5mE8zLSkGwHdLc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.334+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Metaphyseal anadysplasia 1
type: C4873
type: DOID_0050177
label: Spondyloepimetaphyseal dysplasia, Missouri type

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.335+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MMP13

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.335+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAJQvgsYFJAMunECRs8mcRXt HMBluFkR35aQUWEA6nN8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.336+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RARcQEHiEOqI5qt7J3M-TrjP17yJiaFndhpFPxtm-22Po
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.336+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cerebral palsy, spastic quadriplegic, 1
type: C4873
type: DOID_0050177

RAUH0Lucy3awk5hJKeHvBkq3u-dcoBDSa92cYSKKimUOA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.337+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GAD1

RAEoOVWT90dXVcm-0Rs2GZeve3uhhe9JJyIiyK1DsL5MM
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.337+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Bartter syndrome, type 3
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.338+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CLCNKB

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.339+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Joubert syndrome-3
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.339+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AHI1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.340+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Joubert syndrome 4
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.340+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NPHP1

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has provenance: provenance
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created: 2019-04-01T11:08:54.341+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Brachydactyly, type B2
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.341+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NOG

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.342+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Palmoplantar keratoderma, Nagashima type
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.342+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SERPINB7

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.343+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Opsismodysplasia
type: C4873
type: DOID_0050177

RA93pb5NbGupWIupVzudBA0vY0kclUbSIr9FmiUR-66yY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.344+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

INPPL1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.344+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KBG syndrome
type: C4873
type: DOID_0050177

RAyDToh5G41uSlKJmNelvN8AhdoxlznWlm5gUcKklebfo
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.345+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ANKRD11

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.345+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypomagnesemia 1, intestinal
type: C4873
type: DOID_0050177

RATv1Pn3dEq1nVUZv9SCL8UBh5L7QGY2QVsE0LFcqUvGg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.346+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TRPM6

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.347+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAqpJw5LZlb74opJynDnt9vGs2qvjT1FzqDxrN9hgGWYY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.348+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAymuSZad95CCRiiiLJyU8wCmV2zs xuANyjTFk 6WLlU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.348+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypogonadotropic hypogonadism 2 with or without anosmia
type: C4873
type: DOID_0050177

RAF2VP3XJn8yWZojxE5ut5ZzRlswENhIZdmOMdu -om4c
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.349+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FGFR1

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Tarsal-carpal coalition syndrome
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
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created by: http://orcid.org/0000-0001-7542-0286
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Ectodermal dysplasia 3, Witkop type
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.351+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MSX1

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created: 2019-04-01T11:08:54.352+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hemolytic anemia due to G6PD deficiency
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

G6PD

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Stuttering, familial persistent, 1
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AP4E1

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created: 2019-04-01T11:08:54.354+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Deafness, X-linked 5
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AIFM1

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created: 2019-04-01T11:08:54.355+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spermatogenic failure, X-linked, 2
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.356+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TEX11

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Abruzzo-Erickson syndrome,
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.357+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAJPnRpQJnBBfXCInQ6LyK8Rbt7D 6e8op5YHSdpvGQCY
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created: 2019-04-01T11:08:54.358+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
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NDUFB3

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Bohring-Opitz syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.359+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ASXL1

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

D-glyceric aciduria
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GLYCTK

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Terminal osseous dysplasia
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.361+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAnYKibXovp9LeWXGXZ2T0RyRjKGncXSAfA7SVeywesN4
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created: 2019-04-01T11:08:54.362+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Muscular dystrophy, limb-girdle, type 2L
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.362+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created: 2019-04-01T11:08:54.363+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Dentatorubro-pallidoluysian atrophy
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.363+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ATN1

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created: 2019-04-01T11:08:54.364+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

King-Denborough syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.364+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RYR1

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created: 2019-04-01T11:08:54.365+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LEOPARD syndrome 1
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.365+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PTPN11

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created: 2019-04-01T11:08:54.366+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Renal tubular acidosis, distal, AD
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.367+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC4A1

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created: 2019-04-01T11:08:54.367+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Growth hormone deficiency with pituitary anomalies
type: C4873
type: DOID_0050177
label: Pituitary hormone deficiency, combined, 5
label: Septooptic dysplasia

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created: 2019-04-01T11:08:54.368+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HESX1

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created: 2019-04-01T11:08:54.368+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RApdcxsK0uentmeysWc-tU25VJpRNY3IH2 XGos1jRrIk
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created: 2019-04-01T11:08:54.369+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAYcgabKUaO3FDlr30s-r8ene-WpXl3XS2Xmdi5tLArQY
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created: 2019-04-01T11:08:54.369+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA2m qEVWqG-RkJ0cZUBBP4eU r7Ka8RpLscvUCV1HF3A
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created: 2019-04-01T11:08:54.370+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA1d6DPXsizKRY0p7hKlDqXiCFV6mH2oQ4Oz7V-N8nDWg
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.371+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CYP21A2

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Adrenal cortical carcinoma
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TP53

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Corneal endothelial dystrophy and perceptive deafness
type: C4873
type: DOID_0050177

RA9umLg4IkjI65tL7xKi1N0Bx6iYUAJ3jEpR 4wnDglTU
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC4A11

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created: 2019-04-01T11:08:54.374+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

McKusick-Kaufman syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MKKS

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created: 2019-04-01T11:08:54.375+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mast syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SPG21

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created: 2019-04-01T11:08:54.376+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pseudovaginal perineoscrotal hypospadias
type: C4873
type: DOID_0050177

RAGpWg6TAkhTT7Por bbZ3Z1zeN ifNanDdbnlxduPKZM
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has provenance: provenance
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created: 2019-04-01T11:08:54.377+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SRD5A2

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has provenance: provenance
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created: 2019-04-01T11:08:54.377+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset
type: C4873
type: DOID_0050177

RARPDArfwZ3dEPl3wrJ8RUqgnV5Qx9bO9jjBHFelUhT2Q
has assertion: assertion
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type: Nanopublication
created: 2019-04-01T11:08:54.378+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FHL1

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mohr-Tranebjaerg syndrome
type: C4873
type: DOID_0050177

RAjQ8wFebS0YUMl2y2uqg4THYAvAil61Dn65aLTaH5lqU
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created: 2019-04-01T11:08:54.379+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TIMM8A

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created: 2019-04-01T11:08:54.379+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Glycogen storage disease, type IXa1
type: C4873
type: DOID_0050177
label: Glycogen storage disease, type IXa2

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created: 2019-04-01T11:08:54.380+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PHKA2

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created: 2019-04-01T11:08:54.380+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Renal tubular acidosis, distal, autosomal recessive
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.381+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ATP6V0A4

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created: 2019-04-01T11:08:54.382+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA9vYxxqkjOVZP0ZPttCRZdMasiI RMydDTyB3lmptZxE
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created: 2019-04-01T11:08:54.382+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAG2

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created: 2019-04-01T11:08:54.383+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Sick sinus syndrome 1
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.383+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SCN5A

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created: 2019-04-01T11:08:54.384+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MEDNIK syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.384+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AP1S1

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created: 2019-04-01T11:08:54.385+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.385+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GGCX

RAJLEAEoUAaweu0CFWZZvy-u537CVyWOIbYCKxCMfN aY
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created: 2019-04-01T11:08:54.386+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Factor XI deficiency, autosomal dominant
type: C4873
type: DOID_0050177
label: Factor XI deficiency, autosomal recessive

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created: 2019-04-01T11:08:54.386+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

F11

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created: 2019-04-01T11:08:54.387+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAc4e4Dqx-mWNLXp76VBZO3icp zUVct-15kR-sflDkvg
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.388+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAJp99NU4sz-SqXlJvxEeYGnR3N3MmpGNdCXrJ9ULZzz8
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created: 2019-04-01T11:08:54.389+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Nephronophthisis 11
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.389+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TMEM67

RAqNRccOkXk0-cV2025QNbfN6F7uWqzy4DAnf58rbWDWs
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created: 2019-04-01T11:08:54.390+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Retinitis pigmentosa 54
type: C4873
type: DOID_0050177

RAGOHWlVM-2ye7VHBqP56WRBXbNqCqyPEnwrQBwMMOOzM
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has provenance: provenance
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created: 2019-04-01T11:08:54.390+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

C2orf71

RAEtAvKlXDtrzvz7XNPJJ6nKdebMXMVa6XQMaqi9xTKAc
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created: 2019-04-01T11:08:54.391+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Candidiasis, familial, 2, autosomal recessive
type: C4873
type: DOID_0050177

RA2Li4HCWjxXC9W7GNk2LTonK4XF7-9-2Qm2n0PeQmXYw
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.392+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CARD9

RAeMlUJD9X wzUpz7iPjZrZbFbcPPTru3iigrBVZhK3X4
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created: 2019-04-01T11:08:54.392+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Peters-plus syndrome
type: C4873
type: DOID_0050177

RAZNigSIBCiHriJCODNdovapSfZFmb0vBMTW9HMk0IMGU
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has provenance: provenance
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created: 2019-04-01T11:08:54.393+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

B3GLCT

RAHxNJYr07mRNfQerzhKxNxvAW0tgYQ7hej5 1mzjurvA
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type: Nanopublication
created: 2019-04-01T11:08:54.393+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Neuropathy, distal hereditary motor, type VA
type: C4873
type: DOID_0050177

RAJe dnvaz0YQpVZiGujYrhN7lQtPu6Z49NIxoRbKMlvs
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.394+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GARS

RAL5MkUKJfbDNWq9y5IdMKaVxwuzxwUU-Au XhNF1YFOI
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created: 2019-04-01T11:08:54.394+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Atrial septal defect 7, with or without AV conduction defects
type: C4873
type: DOID_0050177

RA70ofq5RRCa tw77H42qJ8e-6S-htW1arr5ZdXANMZFo
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has provenance: provenance
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created: 2019-04-01T11:08:54.395+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NKX2-5

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created: 2019-04-01T11:08:54.395+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Glycogen storage disease 0, liver
type: C4873
type: DOID_0050177

RAZY-l5-WbAXrfxjpF2IkYzD4N7CEFJ4KUxmKf53789KU
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has provenance: provenance
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created: 2019-04-01T11:08:54.396+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GYS2

RAUgNkA-76zQz-3rRd4RrGKLoEYJhsVQTdizczu4QvDTk
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has provenance: provenance
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created: 2019-04-01T11:08:54.396+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Senior-Loken syndrome-1
type: C4873
type: DOID_0050177

RA4TDq723Oj6GjzGjivGyiG-9ZV417uudZzEjjYAXM9CM
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has provenance: provenance
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created: 2019-04-01T11:08:54.397+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAIj3L2XmNRP03rS00VXoyBpNIvQ68H6O0xhknW1ft5SU
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created: 2019-04-01T11:08:54.397+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Deafness, autosomal dominant 5
type: C4873
type: DOID_0050177

RA7B06CJzfL1J1pZ55-ICuwDuRFO-hMPsdcZgbMb4EiUA
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created: 2019-04-01T11:08:54.398+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GSDME

RARkM-F-ilxereErwNt3lR2hBrwTQEICY5vMXjKo0gvHY
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created: 2019-04-01T11:08:54.399+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cowden syndrome 1
type: C4873
type: DOID_0050177

RA1kwlIr5qEUsM0eHsJm6o uuZeRETlv4ZUHS LB3QLLY
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created: 2019-04-01T11:08:54.399+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PTEN

RAyu I8wLPpZJdkXshhK5ePgtRVLvks-Xmvdk2XuG3gyk
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created: 2019-04-01T11:08:54.400+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hermansky-Pudlak syndrome 1
type: C4873
type: DOID_0050177

RAflziNEyHMojWeHKKCL0eJxtBIKgbkYnWCGiLrFFTX5g
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created: 2019-04-01T11:08:54.400+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HPS1

RAg9DR5F6HZFpH4DUGSKN3tDENx8SV4bLGMf4Mm5ETCBY
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created: 2019-04-01T11:08:54.401+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Central core disease
type: C4873
type: DOID_0050177
label: Neuromuscular disease, congenital, with uniform type 1 fiber

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created: 2019-04-01T11:08:54.401+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAK6bZrxVMXGSC4kVKOr8nWhK6qBmiH ISXH7wgUlpeSQ
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created: 2019-04-01T11:08:54.402+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAZck7gj7SXupN9dHeC9C9kzlLmXfM25Fq73OFymveeS8
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created: 2019-04-01T11:08:54.403+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA-6eZifKUFsmY8jvSNycVNYKrHwFOlPZ0FrtK--qTFJM
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created: 2019-04-01T11:08:54.403+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RATbaflGRvGCJ4RdBepyYZN3OvgRgLneLqA4YSn2izx1M
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created: 2019-04-01T11:08:54.404+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAl-tcroRU6 fHPmwRL8RuE9txIX6tJ7wK2xy45LXUZO0
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created: 2019-04-01T11:08:54.405+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA7jwzwt3ZimacWKzisbQIRrK 1kagQE5I5UNAJ5JdXjg
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has publication info: pubinfo
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created: 2019-04-01T11:08:54.406+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RATuSniSQuV0LEKVOb2Co0VwoxjklqykaJN4S0KIWmjEQ
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created: 2019-04-01T11:08:54.406+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Prader-Willi syndrome
type: C4873
type: DOID_0050177

RAps6N9qQvJdGqtvYP3gFjUojUnolA7y1ZsB0npDZ0d2M
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has provenance: provenance
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created: 2019-04-01T11:08:54.407+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SNRPN

RATKTzgwLHYliNc7fhmr9pzRP-PomuQrjJII-vZ-8jZjk
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created: 2019-04-01T11:08:54.408+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spastic paraplegia 23
type: C4873
type: DOID_0050177

RAzHMXOvMy8Q3R2I52EPcRsuownFy9CU4XjibLmCOu0mo
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created: 2019-04-01T11:08:54.408+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DSTYK

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has provenance: provenance
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created: 2019-04-01T11:08:54.409+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Wilson-Turner syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
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created: 2019-04-01T11:08:54.409+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LAS1L

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type: Nanopublication
created: 2019-04-01T11:08:54.410+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cole disease
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.410+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ENPP1

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has provenance: provenance
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created: 2019-04-01T11:08:54.411+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Congenital short bowel syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.411+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAcCeTCrGIlqFMMSWoDOU BQH4DQuqXhPiJlDdSGXErss
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.412+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Sengers syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.413+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AGK

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created: 2019-04-01T11:08:54.413+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Dicarboxylic aminoaciduria
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.414+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC1A1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.414+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Frank-ter Haar syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.415+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SH3PXD2B

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has provenance: provenance
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created: 2019-04-01T11:08:54.415+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Holt-Oram syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.416+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TBX5

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.416+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA8WqnRgq2 jIBnJkOxMRYbtqD06wB1CT0YXWOKlsW2QE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.417+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA7rqUC4c9n9eXA7TDsQIznWlB99V0IbdVT980RiAAVl0
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created: 2019-04-01T11:08:54.417+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hyperostosis, endosteal
type: C4873
type: DOID_0050177
label: Osteosclerosis

RAjDfSz6r6NOVAi4pknSFrnA-XFjQXyAYXV1QVidiVBvc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.418+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LRP5

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.418+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAVyCwSDC5ICH8yFMJdJZPUhoPf-HBHdo4y-2VW3STJeM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.419+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA-vtqaTnAbnjk-UPPQ2DN6fhKLIQ2H30VlMTHel3k538
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.420+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Bart-Pumphrey syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.420+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GJB2

RAOgU8cwYWhW1eHGR6yUAGd0icq2oLWbXPTiOD4SzAzqE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.421+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pulmonary hypertension, familial primary, 1, with or without HHT
type: C4873
type: DOID_0050177
label: Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated

RAAS5XjFdsmu3vnGoBj-uZTTF4IY3VAOuZgbWCoLNGO4Q
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.421+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BMPR2

RAEo6vCnFoE062l-mZUiQriVv-MD7ugj0tU QeVEaWJp0
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.422+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAzEL0CHGQEeeoTW3aWMV1gIRTGOjZk A1l-ZT54VcUzo
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.423+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAHHMWLiO9ABToUTB0Y5EruxSSJZ3kc5GA91fJ0nvPcdU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.423+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Supravalvar aortic stenosis
type: C4873
type: DOID_0050177

RA6Yv8Z3zggxyqVGCKR7LuxXoQ7rIwFXQ68cKZF6YkREw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.424+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ELN

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.424+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Tetralogy of Fallot
type: C4873
type: DOID_0050177

RAw-SXnZIdVIFGvntf1tkm kw-xmA42KlY5RToIreedSQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.425+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAdFGM-UodHdVDTApvnu2TkHsLLHk87kJ7dfPer7gRQ9Q
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.425+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Trichothiodystrophy 4, nonphotosensitive
type: C4873
type: DOID_0050177

RAyvSmu3qMUZ2-lnE7GvYdMAfrK8RvKgaT22ZK03ZW6UA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.426+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MPLKIP

RApRBaQBH2IdenKSy yqGSkqZMGl6sBGCb2ch-M BrFRc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.427+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hyper-IgE recurrent infection syndrome, autosomal recessive
type: C4873
type: DOID_0050177

RAmpPGEo3uJnDrnck-epwGqTV45eVZdJO9EUf06MWPhB4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.427+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DOCK8

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.428+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAR25173aNDfge6pzIthmDT -VcZC5brNrZtVmBVEd7Zc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.429+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BCKDHB

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.429+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA45Q1kd52zJDNInIcGNiNLLKn9Aa7RnTPo5sOKmH9AC0
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.430+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DBT

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has provenance: provenance
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created: 2019-04-01T11:08:54.430+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Niemann-Pick disease, type A
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.431+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SMPD1

RA26wvLydtz2a14xe2lCqDmal7YjO65htc4ckiYNEEqlY
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.432+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Thyroid dyshormonogenesis 1
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.432+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC5A5

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.433+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Methylmalonic aciduria and homocystinuria, cblC type
type: C4873
type: DOID_0050177

RAr9jUY7wLHuQ3ceFb4BsZkA4fHOHGOyy2sTxgMNHal9g
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.433+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MMACHC

RAJxM S7yqMfTtxEx4PNQRPKZcUwoeaM4NExrY6VXIitM
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.434+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Wrinkly skin syndrome
type: C4873
type: DOID_0050177

RAE1gXeex2UPUmkcXeeC8i q06VjgoR1Ryfu 0ScnzbbA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.434+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ATP6V0A2

RA pYcjUmyxvsQS5AsdcAZAbI Ak0bK6eEzb87oY2rIoU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.435+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Epileptic encephalopathy, early infantile, 9
type: C4873
type: DOID_0050177

RASWchC1xnuylUINJ3G22adMNk8LV3gt NpGLjXI0MaBY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.436+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PCDH19

RAH6HIwe-rRGbk2ibW5iJz2lw9vZw5ty3LBJUMtctbcEY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.436+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAt-f98b6XK9uBf7NOSDMxfWNQl W1h wjg0PcCcdLEb0
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.437+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA5TyAxrQeetZkjDYfh27EaMzCU6G3ThKT lD7uHpjp6A
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.437+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Melnick-Needles syndrome
type: C4873
type: DOID_0050177

RAHp-TmNFzG7kUTzD9jcgQqfrPdS49wLGwALARh8W8oxI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.438+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RATHzfInj9OsfA06nExt6wD9Oqi7rW3bHX85xPRKn7cII
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.439+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spastic paraplegia 2, X-linked
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.439+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PLP1

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Maturity-onset diabetes of the young, type VIII
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CEL

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created: 2019-04-01T11:08:54.441+02:00
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created by: http://orcid.org/0000-0001-7542-0286
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Corneal dystrophy, congenital stromal
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DCN

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created: 2019-04-01T11:08:54.442+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Joubert syndrome 5
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.443+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CEP290

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created by: http://orcid.org/0000-0001-7542-0286
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Short-rib thoracic dysplasia 3 with or without polydactyly
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.444+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DYNC2H1

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

B-cell expansion with NFKB and T-cell anergy
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.445+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CARD11

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created: 2019-04-01T11:08:54.445+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SHORT syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.446+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PIK3R1

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created: 2019-04-01T11:08:54.446+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Schopf-Schulz-Passarge syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.447+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

WNT10A

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created: 2019-04-01T11:08:54.448+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

C syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.448+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CD96

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created: 2019-04-01T11:08:54.449+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Immunodeficiency 43
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.449+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

B2M

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created: 2019-04-01T11:08:54.450+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mucolipidosis II alpha/beta
type: C4873
type: DOID_0050177

RA0s22tXbiPHMMpPIPP6S1lTd5sdDOJdzCwHOVz5UnpkM
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created: 2019-04-01T11:08:54.450+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GNPTAB

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created: 2019-04-01T11:08:54.451+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Neuropathy, distal hereditary motor, type IIA
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.451+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HSPB8

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created: 2019-04-01T11:08:54.452+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAeoDQ9WIIWN1RVI ErU4n65kDdHCjO8Iq0Q0kaOx8p9o
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.452+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BSCL2

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created: 2019-04-01T11:08:54.453+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Noonan syndrome 1
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.453+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAXhhoUbxW9wKHsK8-tsSlHPH4qTvDpYOC6Y KbUlxj4E
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created: 2019-04-01T11:08:54.454+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cartilage-hair hypoplasia
type: C4873
type: DOID_0050177

RAKClRzCjyZE9 JobjHhQm1Ju7ORhVe4AEs6f9xa J hA
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created: 2019-04-01T11:08:54.454+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RMRP

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created: 2019-04-01T11:08:54.455+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Tangier disease
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.456+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ABCA1

RA9UiczBw8jM 7T-Cnxq91U SOdiTot-4rhPrIKwq8eFI
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created: 2019-04-01T11:08:54.456+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
type: C4873
type: DOID_0050177

RASJQBDfNDm6HnGAsSVvSk912kvi9AMk2CFR25JYuIN-I
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created: 2019-04-01T11:08:54.457+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FKTN

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created: 2019-04-01T11:08:54.457+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Corneal dystrophy, lattice type I
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.458+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TGFBI

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created: 2019-04-01T11:08:54.458+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Venous malformations, multiple cutaneous and mucosal
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.459+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TEK

RAqoKDzMXBjm4sISZ706gmR1b2ZmIV2TsNr5hNRZ0mHvY
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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ataxia-pancytopenia syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.460+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SAMD9L

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created: 2019-04-01T11:08:54.460+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Lateral meningocele syndrome
type: C4873
type: DOID_0050177

RAlcCJHjD0n7TuXGJIK0R-WGtoAeflL -WYkJHSqN9oZo
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created: 2019-04-01T11:08:54.461+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NOTCH3

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

2-aminoadipic 2-oxoadipic aciduria
type: C4873
type: DOID_0050177

RAbQ2Uxvn3UhlO1KcmSgSnR XWlx1oK4qaz6x06CnSexM
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created: 2019-04-01T11:08:54.462+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DHTKD1

RABRrWRDZvM0g-qfaT LNUr05sAO0GwC3g-7gAI04wFw4
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created: 2019-04-01T11:08:54.463+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mitochondrial complex IV deficiency
type: C4873
type: DOID_0050177

RA-zL9T3D-6laUF-MPOejr782AdilAG XtSN0I6nRrtSM
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created: 2019-04-01T11:08:54.463+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

COX20

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created: 2019-04-01T11:08:54.464+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
type: C4873
type: DOID_0050177

RA8Hnyn-2R NccbbFs4Ba5oVWD98o9dcWR0OOyUvCGpwU
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created: 2019-04-01T11:08:54.464+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PIEZO1

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created: 2019-04-01T11:08:54.465+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Kohlschutter-Tonz syndrome
type: C4873
type: DOID_0050177

RAx8iORe-AzIhzsxJYoK9NMHlhiSzizuBatl5RN EX3Ps
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created: 2019-04-01T11:08:54.465+02:00
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created by: http://orcid.org/0000-0001-7542-0286
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ROGDI

RAF4SMWz-HOBNNRR2MPOLRBOwCWhisljjAEM3NOyKFCE0
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created: 2019-04-01T11:08:54.466+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Weaver syndrome
type: C4873
type: DOID_0050177

RAVB30RUJWUI zuhGXvbzbdftruj8rI7h0HXWG4cziAUo
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created: 2019-04-01T11:08:54.466+02:00
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created by: http://orcid.org/0000-0001-7542-0286
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EZH2

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created: 2019-04-01T11:08:54.467+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.468+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FLVCR2

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created: 2019-04-01T11:08:54.469+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Sotos syndrome 1
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.469+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NSD1

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created: 2019-04-01T11:08:54.470+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Retinitis pigmentosa 1
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.471+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RP1

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created: 2019-04-01T11:08:54.471+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Lipoid adrenal hyperplasia
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.472+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

STAR

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created: 2019-04-01T11:08:54.472+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Bronchiectasis with or without elevated sweat chloride 1
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.473+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SCNN1B

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created: 2019-04-01T11:08:54.474+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Schwartz-Jampel syndrome, type 1
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.474+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HSPG2

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created: 2019-04-01T11:08:54.475+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Orotic aciduria
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.475+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

UMPS

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created: 2019-04-01T11:08:54.476+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Silver spastic paraplegia syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.476+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created: 2019-04-01T11:08:54.477+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Urocanase deficiency
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.477+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

UROC1

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created: 2019-04-01T11:08:54.478+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Homocystinuria, cblD type, variant 1
type: C4873
type: DOID_0050177
label: Methylmalonic aciduria and homocystinuria, cblD type
label: Methylmalonic aciduria, cblD type, variant 2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.478+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MMADHC

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.479+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAPFRhB2GlLblrOW6siulwL32OF1ql5kOH6j3q Qr5aio
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.480+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA3mI3ca6ji3vJ0GEdfq6YQJpmc25PHFpRj9oVLan8XQU
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.480+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA1vBRTaGwn ZPepS vk 1TgILCWtTH7ayLtkzPB7iov0
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.481+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA4ZcOtJbA2yIrIXCPAyQ3iX8Ocxd6ka9RDv7kGCn5YH4
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created: 2019-04-01T11:08:54.481+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Adrenal hypoplasia, congenital
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.482+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NR0B1

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created: 2019-04-01T11:08:54.482+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Nephrogenic syndrome of inappropriate antidiuresis
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.483+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AVPR2

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:54.484+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Aland Island eye disease
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.484+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CACNA1F

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created: 2019-04-01T11:08:54.485+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Epiphyseal dysplasia, multiple, 2
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.485+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

COL9A2

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has provenance: provenance
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created: 2019-04-01T11:08:54.486+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Joubert syndrome 6
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.486+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RACTScMc5XLvwUiQ39uTaOc33n0qjDTiasc8VgWWtu1SE
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.487+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Joubert syndrome 7
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.487+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RPGRIP1L

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has provenance: provenance
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created: 2019-04-01T11:08:54.488+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Choriodal dystrophy, central areolar 2
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.488+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
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PRPH2

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created: 2019-04-01T11:08:54.489+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Floating-Harbor syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.489+02:00
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created by: http://orcid.org/0000-0001-7542-0286
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SRCAP

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created: 2019-04-01T11:08:54.490+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Amelogenesis imperfecta, type IG (enamel-renal syndrome)
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.491+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FAM20A

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.491+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mental retardation, autosomal dominant 1
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.492+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MBD5

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created: 2019-04-01T11:08:54.492+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Otofaciocervical syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.493+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

EYA1

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created: 2019-04-01T11:08:54.493+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Arterial tortuosity syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC2A10

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Stickler sydrome, type I, nonsyndromic ocular
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.495+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

COL2A1

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.495+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Stickler syndrome, type IV
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.496+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

COL9A1

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type: Nanopublication
created: 2019-04-01T11:08:54.496+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hyperchylomicronemia, late-onset
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.497+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

APOA5

RAWRmWpYWia5HQwoSa-RYkjC81qJO nuyhctvvJ6CUf0g
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.498+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Amelogenesis imperfecta, type IIA1
type: C4873
type: DOID_0050177

RAgrj-P4 k6k8mOXayZz6KUtT07rWUxLHBuo8VJTYI0xE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.498+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KLK4

RA5B2mG4JpemdMRX7jUFnhUawtHCh9IMBE2eFo1OZEMsg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.499+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Optic atrophy plus syndrome
type: C4873
type: DOID_0050177

RA3yEhVxVt4vNcfS8OjbCFGS-8sUVivd6 u4RvYEaYmhI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.499+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

OPA1

RAR4ip1sqpwgStVOG OdE1nz39 TPBJC4u20CUPXV2mPA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.500+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Osseous heteroplasia, progressive
type: C4873
type: DOID_0050177

RAUQKeh4FGYba9awR0D67o3EOWQt1uA t awTuK0Lsro0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.500+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GNAS

RAAitC20UrmNMCKpU4x6hVh9yTv5W5DfybKqkHWbJiAz0
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.501+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Sensorineural deafness with mild renal dysfunction
type: C4873
type: DOID_0050177

RAEXdftX13XXC366fcp I0GOyS p2WWjPjluv0Gq W3KM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.502+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BSND

RAODgZxbmltkQKiaMcXGL-XLqEBAFgKTtBDx2cv0ifhX0
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.502+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cornea plana 2, autosomal recessive
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.503+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KERA

RAiwGFSBd69dhvSZzq5f9ZN7toAgN8M9uOjCil N2kJlg
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.504+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Farber lipogranulomatosis
type: C4873
type: DOID_0050177

RA3nfmzHeoZxGEe LarleyIjcMVnD8hCy-x19yd7u6lgM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.504+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAANlBa-W1mFuXn2BGdPwegfe2272ne8FJYl04 XBRIGw
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.505+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypoprothrombinemia
type: C4873
type: DOID_0050177

RAB--TgNammJ2C4EL6Q kYL regZpjhtpoUeKHslTrAFU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.505+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

F2

RAIeBW6lod86AnCbIKJ7KMTq1Lis0AT3o ySnOn78-NZc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.506+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Neurofibromatosis, type 1
type: C4873
type: DOID_0050177

RA4oQupSrNuDajAon9JYbDlHv2ufHLmBJOpWwpUcyRCNQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.507+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NF1

RAJBXlFWGVzk NO9PGG3wa4dR6QGSK-77rCYpXsBazDJA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.507+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cavitary optic disc anomalies
type: C4873
type: DOID_0050177

RAbYsgeKsepFZU mQKYi8t pIJPqX vz6fRuH DTti9is
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.508+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MMP19

RAWqSbhTP3eBMdT7CsCaO DphYQivqB0wrZEOEs5TSEzM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.508+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAepQXK14754rBgAQwtjDK85HJKBpVlXZkdS8tv7v7ds8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.509+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

APOPT1

RAD 3qtOfP7pkBiu4ND5AH3Bphg5wqFY5Ecnb9aY6 vNM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.509+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAEnxyAQOIyblcqRB2kHJAPtPcKNQno4FuMCrWpjN SAM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.510+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PET100

RA1nQWIb74iDuVvcCdAgB2XNJAKomInk8kZOa0tKJJnIQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.510+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Liebenberg syndrome
type: C4873
type: DOID_0050177

RAJio1Ac rrif5EEcdK-Dc L0-m32HseqWlkUOddi5B94
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.511+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PITX1

RAc1h5YE1dkhRQbRRgcJM1hYkgK55YPpIto1RnpGISBu0
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.512+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Marshall-Smith syndrome
type: C4873
type: DOID_0050177

RAQV3WaalpII6c-8fb2WoHnkzLXBV3pc6CgjxGivw1S1c
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.512+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NFIX

RA6Z2aTTvlNTrbCqWujtXCxgtuBRvHWdBlqY25r9deVmc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.513+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Metachondromatosis
type: C4873
type: DOID_0050177

RA0690Q-FV PwulXAd1ODhWrQR4ashSbh22zg4d 9P kQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.513+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAUJsMBToT4beYCPogwwagqSnKWIiCNCQ9JmRytKLSQKI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.514+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Orofaciodigital syndrome VI
type: C4873
type: DOID_0050177

RAjFOquCbiQu6XQNLmKjpFN2Zl1wtXlgmlonOFUCAaGFY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.514+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

C5orf42

RAbXUteLGlng7YtDX3P2ijDTW4-Ez72ZwaCBEOiKabcmU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.515+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spinocerebellar ataxia 31
type: C4873
type: DOID_0050177

RAertQrpKXGoZqCZZEjFWbbljh9S1zudIKk6yqdad40AA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.515+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BEAN1

RArDnJHtPVrcHzCcj5w0mDWLFmCZ6HK0QFzqxBqNdYjfY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.516+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Coproporphyria, Harderoporphyria
type: C4873
type: DOID_0050177

RAF9dfqf6Saj6ahbTPOzF4K DwwnGaGohgU5kpZXR78E0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.516+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CPOX

RAa62jRx4QqpNhkYa-WUO6Ks1Lt1Zp2KPnAF5QXuQCUjM
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.517+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LADD syndrome
type: C4873
type: DOID_0050177

RA9Gejeae5M9dV6qHUzkVMBqtmGJXUQgsnJjIhdyl2jec
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.517+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FGF10

RA7GvZH1QKWiX7JpAU5xaxM2HQNQDNyjcbZ2kiSHSgdn4
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.518+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA 0T00ScLIadFeT4OSg3s8-Dy- GUPQaOOe9oyXIls9g
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.518+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FGFR2

RAI8o3pMzrHwQIVni2 lSWzHiKE8V k8an8WJ-sBQ9s9A
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.519+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAyr8nAQmriRkhJkILjDQfQQ6vPhzuMuuQW-S7PHbOhAQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.520+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA6EQNJBLgOzl98IYAiNAf3LhERXF P28N6uS8usMpGKY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.521+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Progressive external ophthalmoplegia, autosomal dominant 1
type: C4873
type: DOID_0050177

RAhWsYAF2Bovub8IKMI-0ke43q4RhxxXA0LqbUyqTDos4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.521+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

POLG

RAX6QWBY72 wtck8Au5dtMg8Y7G8kqZeUanDl9XZESDTQ
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.522+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Myopathy, centronuclear
type: C4873
type: DOID_0050177

RAMKuFeq2uAV43xqnJ2pDey4I7Ur3RYhdX4baVDkbXL3k
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.523+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DNM2

RA1W S8Ti03UgFgzVFS6GsNmo5ZGp1atLxVkl8NxHK2Wg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.523+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAueScxnXe9uW7Yu0YUKi9TugzciBqUP1m1Kyl6xEB3HM
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.524+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAQCbSmiVq1 yMIPPnmgIW3KAQN1mYBlopMtDjjW3Xwm0
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.524+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Scapuloperoneal syndrome, myopathic type
type: C4873
type: DOID_0050177

RA3Rj1Ui3uhhE9UzROrcgrcSBdQSbrlvCioIzJ-ccFeMg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.525+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA-JFlFmJOVuPO0AVUxIFBmvg KozYTfPQUhkcj i2Mns
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.526+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAr2WYIKw azhpBmExdH6dmsuTYI-DhCzSdPdlSBkJ63Q
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.526+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

JAG1

RAUeBfKIdGcbhyViAP7OKJAnM1oU fnGbFRWv-bajgmxI
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.527+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Muckle-Wells syndrome
type: C4873
type: DOID_0050177

RAv3onEwjOIk2lBdBpebNkdncIGi2qx-ltXVotj93oBWE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.527+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NLRP3

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

WHIM syndrome
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
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CXCR4

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created: 2019-04-01T11:08:54.529+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Atransferrinemia
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.530+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TF

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created: 2019-04-01T11:08:54.530+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Glycogen storage disease VI
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.531+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PYGL

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created: 2019-04-01T11:08:54.531+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Shwachman-Diamond syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.532+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SBDS

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created: 2019-04-01T11:08:54.532+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hemochromatosis, type 2A
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.533+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HFE2

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created: 2019-04-01T11:08:54.533+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Joubert syndrome 9
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.534+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CC2D2A

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created: 2019-04-01T11:08:54.535+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RArtTkBkf7FCPOUI7kNW0JG4jELDjHFw09xur6hiaK1hc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.535+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created: 2019-04-01T11:08:54.536+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Joubert syndrome 8
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.536+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ARL13B

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created: 2019-04-01T11:08:54.537+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Fletcher factor (prekallikrein) deficiency
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.537+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KLKB1

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created: 2019-04-01T11:08:54.538+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Metaphyseal anadysplasia 2
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.538+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MMP9

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has provenance: provenance
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created: 2019-04-01T11:08:54.539+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Parietal foramina with cleidocranial dysplasia
type: C4873
type: DOID_0050177

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has assertion: assertion
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created: 2019-04-01T11:08:54.539+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MSX2

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created: 2019-04-01T11:08:54.540+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Neurofibromatosis-Noonan syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.540+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RABuG8DEha9qPahpU8r Nnm1wvOXvJJxUYb-BI-XPVy8M
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has provenance: provenance
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created: 2019-04-01T11:08:54.541+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Carcinoid tumors, intestinal
type: C4873
type: DOID_0050177

RAhhu gYr6pNgBFjGVp7CfTUhGOjBE2KuadRmeEaOmglA
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has provenance: provenance
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created: 2019-04-01T11:08:54.541+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SDHD

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.542+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Chondrocalcinosis 2
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.543+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ANKH

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has provenance: provenance
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created: 2019-04-01T11:08:54.543+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Dystonia-Parkinsonism, X-linked
type: C4873
type: DOID_0050177

RAOdKwA7h47ig3E85KVrzed8xNgv-rcAhrQNFWtVM9Jfg
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has provenance: provenance
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created: 2019-04-01T11:08:54.544+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TAF1

RAJVlXIXYkYWFoebSshYyjBSX1H6MiROdUAbTiMMcyAME
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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hyperbilirubinemia, familial transient neonatal
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.545+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

UGT1A1

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created: 2019-04-01T11:08:54.545+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hyperlysinemia
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.546+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AASS

RA58aIbJTlfwR4aBnJpIvSpc2BpUk0pEgxD37zT6VnPLk
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created: 2019-04-01T11:08:54.546+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hermansky-Pudlak syndrome 2
type: C4873
type: DOID_0050177

RALgN2Ozdtw4PfbQ59300TgNKPp8v cfEjLDQcj2BPCAU
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has provenance: provenance
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created: 2019-04-01T11:08:54.547+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AP3B1

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created: 2019-04-01T11:08:54.547+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Vitamin D-dependent rickets, type I
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.548+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CYP27B1

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created: 2019-04-01T11:08:54.548+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Polycystic kidney disease, adult type I
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PKD1

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created: 2019-04-01T11:08:54.550+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ehlers-Danlos syndrome, type VI, 225400 (3)
type: C4873
type: DOID_0050177

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PLOD1

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Colorblindness, tritan
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

OPN1SW

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Peroxisome biogenesis disorder 5A (Zellweger)
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PEX2

RAV90zmPAFkzP9D4j2fDPo63Up3FzofEeKPmYeQrd1da0
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created by: http://orcid.org/0000-0001-7542-0286
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RA3uzyZYOXPIK1CtQWeCBFLKDFxM2sFkY2xe5G8g3UVbY
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created: 2019-04-01T11:08:54.555+02:00
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created by: http://orcid.org/0000-0001-7542-0286
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TMEM126B

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Popliteal pterygium syndrome, Bartsocas-Papas type
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.556+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RIPK4

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ceroid lipofuscinosis, neuronal, 4, Parry type
type: C4873
type: DOID_0050177

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DNAJC5

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Gray platelet syndrome
type: C4873
type: DOID_0050177

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NBEAL2

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created by: 0000-0002-7770-620X

Short-rib thoracic dysplasia 6 with or without polydactyly
type: C4873
type: DOID_0050177

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NEK1

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Hyperphosphatasia with mental retardation syndrome 1
type: C4873
type: DOID_0050177

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PIGV

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Reynolds syndrome
type: C4873
type: DOID_0050177

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LBR

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Coumarin resistance
type: C4873
type: DOID_0050177

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CYP2A6

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Hawkinsinuria
type: C4873
type: DOID_0050177

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HPD

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Renal cell carcinoma
type: C4873
type: DOID_0050177

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RNF139

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Marshall syndrome
type: C4873
type: DOID_0050177

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COL11A1

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Hyperkalemic periodic paralysis type 2
type: C4873
type: DOID_0050177

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SCN4A

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Adenomatous polyposis coli
type: C4873
type: DOID_0050177
label: Brain tumor-polyposis syndrome 2
label: Gardner syndrome

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APC

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RAqqo7DoeHfBpj1Y1pU9BISurrBX dBV0EsU8xjPpSpzw
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RAvpacw i-9FQ5UM0vZF9qtqU1F9DtVWZf9YsPwd-8Sxk
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RApw6Fel4-3gJdK1kfjRRW-N0fnU9wmrvHjtwabJkICXs
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RA7afTLrql3DOxaqD4KFgay3ZQc3CYbZHuBGqlwkRheRk
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RAFXrnSo46XpLgdIacnc4 CBAUDf45 K2ZMCLMBq9FtGo
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RA727ID56HGIHmBwsBkgFcS8d0kjA6As3UxMhFfMAhBNA
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RA4BhQnCc-olY-9wqdPQ5FrWf--hDQ35PTD7fCF5qi7to
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RAJ5eW9cyXyrMtRlvDq8u3SCpGmY4dopRpRLStI6m9ECs
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RAcVq gVuNNmFA7tpYH3Z0r7VmL-2vNTnCcU5SATg5cyA
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pseudohypoaldosteronism type I, autosomal dominant
type: C4873
type: DOID_0050177

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NR3C2

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Cryohydrocytosis 1850
type: C4873
type: DOID_0050177

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RAzhpYH3usYeFFYATgbUbd0VFGEIeIrR5df5ASF7hAFWM
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created: 2019-04-01T11:08:54.578+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Joubert syndrome 1
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

INPP5E

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Jervell and Lange-Nielsen syndrome
type: C4873
type: DOID_0050177

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RAHgk9DrNBsL3GxgK-cwyBOoS9PdlJC8B9Orx4sp2KpPw
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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Glycogen storage disease IV
type: C4873
type: DOID_0050177

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GBE1

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spinal muscular atrophy-3
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SMN1

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created by: 0000-0002-7770-620X

Tyrosinemia, type III
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.584+02:00
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RAAykUx1RqWrJGtwj9Vyybdxu6Cwk0b2PaELrhzqMI9TQ
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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Joubert syndrome 10
type: C4873
type: DOID_0050177

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OFD1

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created by: 0000-0002-7770-620X

Borjeson-Forssman-Lehmann syndrome
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
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PHF6

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Amyotrophic lateral sclerosis 4, juvenile
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.587+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SETX

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created: 2019-04-01T11:08:54.587+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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DCLRE1C

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Folate malabsorption, hereditary
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC46A1

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Senior-Loken syndrome 4
type: C4873
type: DOID_0050177

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NPHP4

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created: 2019-04-01T11:08:54.591+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Kniest dysplasia
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.592+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created: 2019-04-01T11:08:54.592+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Crigler-Najjar syndrome, type II
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.593+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created: 2019-04-01T11:08:54.594+02:00
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created by: http://orcid.org/0000-0001-7542-0286
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Dehydrated hereditary stomatocytosis 2
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KCNN4

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created by: http://orcid.org/0000-0001-7542-0286
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Spastic paraplegia 79, autosomal recessive
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
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UCHL1

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Kaufman oculocerebrofacial syndrome
type: C4873
type: DOID_0050177

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UBE3B

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Alternating hemiplegia of childhood 2
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
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ATP1A3

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created: 2019-04-01T11:08:54.598+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Robinow syndrome, autosomal dominant 1
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.598+02:00
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created by: http://orcid.org/0000-0001-7542-0286
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WNT5A

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
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Pituitary adenoma, growth hormone-secreting
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
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AIP

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypercarotenemia and vitamin A deficiency, autosomal dominant
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.601+02:00
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created by: http://orcid.org/0000-0001-7542-0286
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BCO1

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Paragangliomas 4
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
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SDHB

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Carpal tunnel syndrome, familial
type: C4873
type: DOID_0050177

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TTR

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Fibromatosis, gingival, 1
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.604+02:00
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created by: http://orcid.org/0000-0001-7542-0286
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SOS1

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
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Ichthyosis vulgaris
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FLG

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created by: http://orcid.org/0000-0001-7542-0286
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Hyper-IgE recurrent infection syndrome
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

STAT3

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created by: http://orcid.org/0000-0001-7542-0286
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ZFPM2

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Trichorhinophalangeal syndrome, type I
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.609+02:00
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created by: http://orcid.org/0000-0001-7542-0286
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TRPS1

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Adrenocorticotropic hormone deficiency
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.610+02:00
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created by: http://orcid.org/0000-0001-7542-0286
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TBX19

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Neutropenia, severe congenital 1, autosomal dominant
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ELANE

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created by: http://orcid.org/0000-0001-7542-0286
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Anemia, hypochromic microcytic, with iron overload 1
type: C4873
type: DOID_0050177

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SLC11A2

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Crigler-Najjar syndrome, type I
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
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RAh6EACs1aiUeP DpsKtLSwByiBRu4dZzRXISJGf4MWDE
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created by: http://orcid.org/0000-0001-7542-0286
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Dyggve-Melchior-Clausen disease
type: C4873
type: DOID_0050177

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DYM

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created by: 0000-0002-7770-620X

Hyperprolinemia, type I
type: C4873
type: DOID_0050177

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PRODH

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created: 2019-04-01T11:08:54.616+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Polycystic kidney and hepatic disease
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.617+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PKHD1

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.617+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Sjogren-Larsson syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.618+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ALDH3A2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.619+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Thrombotic thrombocytopenic purpura, familial
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.619+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ADAMTS13

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.620+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Dent disease 2
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.620+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

OCRL

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.621+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Agammaglobulinemia, X-linked 1
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.621+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BTK

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.622+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Renpenning syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.622+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PQBP1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.623+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Otopalatodigital syndrome, type I
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.624+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAcW15ted7cVpim6-3jrt8fwalfazGb04F875A807GeiE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.624+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pierson syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.625+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LAMB2

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created: 2019-04-01T11:08:54.625+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spondylometaphyseal dysplasia, Kozlowski type
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.626+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TRPV4

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created: 2019-04-01T11:08:54.626+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Bjornstad syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.627+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BCS1L

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.627+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spinal muscular atrophy, late-onset, Finkel type
type: C4873
type: DOID_0050177

RAmBxAOiuqu0xgc6OuZnxzvqWDlxRtLJVInicm9pfs91s
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.628+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

VAPB

RA-EQvC4XJ pmBcgpBGpO9KeWkl5H4WZUaNZbstf6JYfo
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.628+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Microphthalmia, syndromic 3
type: C4873
type: DOID_0050177
label: Optic nerve hypoplasia and abnormalities of the central nervous system

RApRE8bOEvpg 4ktki2STmsHW3WH1HLC-pUKhoAy-2IUw
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.629+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SOX2

RAsgysOG60KkL6OUDAKUqx2QhV-i1 d51Mcis8bHfLRHM
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.629+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAD6cR1sFSwpQS50kte4H35z6CbONKemKN3H0sEwCOF8g
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.630+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAW3Ab8aUCD9GodQzD2DyEwKqX52DxjeKgW 1VzHieeTk
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.630+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Chylomicron retention disease
type: C4873
type: DOID_0050177

RAu4JYp1mqdsm4Nzv DVLCYmbC0Ds4sdfMPDq6nnqoVDc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.631+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SAR1B

RAujkT4EkFOiIOmYgcy-CNooIOJfLTh1VnOfYqKUyVipI
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.632+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mandibuloacral dysplasia
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.632+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LMNA

RA34Mo2F1ZUFhRm9j5LTsDUpmXkWRLM3MsmEoLmpz0xbE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.633+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cherubism
type: C4873
type: DOID_0050177

RAojq7fBRdRlKGrbGJOgrhEsodH1396hSAswqRD-GiCq8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.634+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SH3BP2

RAWHV D9HuvrE0xzXsk8I-Ee7wIB47w2LKt6Po5LjPxVY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.635+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hermansky-Pudlak syndrome 3
type: C4873
type: DOID_0050177

RAoUsBJDfC8KsKzbPqPyeXG40-GLvmTbOnVDE5NDpmXpY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.635+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HPS3

RAwWlB7sWTs8iSW4UHb7P2KfzqzUIsIdpb3hkvkFzkuHU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.636+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypophosphatemic rickets, autosomal dominant
type: C4873
type: DOID_0050177

RA1fmugv1zj5WIH4ovuZ73qGYDsq8RpTDAeV91tspygWU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.636+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FGF23

RAw xEYkMG6 cHvVN3gVXGIOt988dO5DqzeFBc-4l7PV8
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.637+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Netherton syndrome
type: C4873
type: DOID_0050177

RAuS-vum07q7ik-qxJhArs9QGU7UpnWsl0NuezX6ks3SQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.638+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SPINK5

RAMJtdSniK f3TRt Tb7iI3m9qXTmZvNdUXfmwRiJriww
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.638+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Neutropenia, cyclic
type: C4873
type: DOID_0050177

RA5URdg7iumIt4cHRmAFVnCi2t0Y7y8jqfvslRxt8sRI0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.639+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAHFNron9l4GbvlGhqb27lBoKquxlIH0XdI1zY8xcVkcU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.640+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Nephrotic syndrome, type 1
type: C4873
type: DOID_0050177

RA7X5ynUzH9IPIr2IwV fTRjOt5XSG QHdCOLbOq6dUao
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.640+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NPHS1

RAsioHet4aAezxlGoe TIFuwLZ91Y-jOKEB4Lw9oHY8ms
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.641+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
type: C4873
type: DOID_0050177

RAF3Qg9BvgZkBcckFk3AHmP6Iz3ueBScVIaYp4Q CIja8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.641+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AIRE

RAMBS n2Se-lFNxENrfOA9wpa3-w6UdClO3X1X7zw129k
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.642+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Albinism, brown oculocutaneous
type: C4873
type: DOID_0050177
label: Albinism, oculocutaneous, type II

RAzyfJFDgTfX4wiOZ8jDw2i5XlQpW43A9nFHGwNJ6Gbso
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.643+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

OCA2

RAmyGD5-MIWJkmYYULu1UJ8 hqv7EziKSzt-JitqnJF2s
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.643+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAR15uJtOEl -hpvcdCC98QsNyN4V1ES-JhOxRzy4YH3w
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.644+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAKHufzHoPF8S1sspLYobdiXCFdx0TAaYP5WsvjHQo9Fw
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.645+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Bombay phenotype
type: C4873
type: DOID_0050177

RAv6eApUQsKf46Itz7DmMCQ 95DFwu82NXBWbiXwf-W4I
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.645+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FUT1

RA2n9ys0E9bJcwcQoqEZZ8wfywOoWv-Pp7DkhJ0 bEX8w
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.646+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypogonadotropic hypogonadism 23 with or without anosmia
type: C4873
type: DOID_0050177

RA-qcxP16h7lSOyx2rgB7sujJ0vufUEmuawhNMjxc-Nkg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.646+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LHB

RAstRFrz BaY2lXSxMo6A1sNq8Ku8FVjWhAi3MQzTTsnA
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created: 2019-04-01T11:08:54.647+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Acatalasemia
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.648+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CAT

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ablepharon-macrostomia syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.649+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Basal ganglia calcification, idiopathic, 6
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

XPR1

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created: 2019-04-01T11:08:54.651+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Singleton-Merten syndrome 1
type: C4873
type: DOID_0050177

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has provenance: provenance
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

IFIH1

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mitochondrial myopathy with lactic acidosis
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.653+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PNPLA8

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has provenance: provenance
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created: 2019-04-01T11:08:54.653+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spinocerebellar ataxia 34
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.654+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ELOVL4

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created: 2019-04-01T11:08:54.655+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Gastrointestinal defects and immunodeficiency syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.655+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TTC7A

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.656+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Wiedemann-Steiner syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.657+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KMT2A

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Short-rib thoracic dysplasia 9 with or without polydactyly
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.658+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

IFT140

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Coffin-Siris syndrome 1
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.659+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ARID1B

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created: 2019-04-01T11:08:54.660+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Perlman syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.660+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DIS3L2

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

46XY sex reversal 6
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.661+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MAP3K1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.662+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Acne inversa, familial, 1
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.662+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NCSTN

RAxgjZIhengkhOfjzkPcUKpEwdBFBPX4ftA4FY0 hM0qs
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.663+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Methylmalonic aciduria, vitamin B12-responsive
type: C4873
type: DOID_0050177

RA1EnXWyecacVG4B2JEiuEY-nx1JtYomZDNdWjyJbzpto
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.663+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MMAA

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.664+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Stiff skin syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.664+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FBN1

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.665+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Corneal dystrophy, epithelial basement membrane
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:54.666+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAg34 XbFvHwY3Gd3nH4fqWOUzI6zeNFSk9yerrYc-vIk
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has provenance: provenance
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created: 2019-04-01T11:08:54.666+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Multiple endocrine neoplasia 1
type: C4873
type: DOID_0050177

RAcpI25EJ 4DUSTfh9q rXum6Wbrv2PuH4NiOi0ufoEIs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.667+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MEN1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.667+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Retinitis punctata albescens
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.668+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RLBP1

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created: 2019-04-01T11:08:54.669+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Periodic fever, familial
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.669+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TNFRSF1A

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has provenance: provenance
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created: 2019-04-01T11:08:54.670+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hyperparathyroidism, familial primary
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:54.670+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CDC73

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created: 2019-04-01T11:08:54.671+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Episodic ataxia/myokymia syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
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created: 2019-04-01T11:08:54.672+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KCNA1

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created: 2019-04-01T11:08:54.672+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hyperuricemic nephropathy, familial juvenile 1
type: C4873
type: DOID_0050177

RAV3B-4p5G0Okd1m-qvODrm-GQZqyEjKXkJywwzYZNWT0
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created: 2019-04-01T11:08:54.673+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

UMOD

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created: 2019-04-01T11:08:54.674+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Prostate cancer, hereditary
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.674+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MSR1

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created: 2019-04-01T11:08:54.675+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Anonychia congenita
type: C4873
type: DOID_0050177

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RSPO4

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created: 2019-04-01T11:08:54.676+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

McArdle disease
type: C4873
type: DOID_0050177

RAiJCYVfCZo2iMcII543KqAdPk804Ilbo5ajdRAbii1yU
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has provenance: provenance
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created: 2019-04-01T11:08:54.676+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PYGM

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
type: C4873
type: DOID_0050177

RA7GNrgjU9jVDUA7t3aOIso0pI6uZ2VeDnbZwkpA8hLpY
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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SUCLG1

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.678+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Multiple sulfatase deficiency
type: C4873
type: DOID_0050177

RAjU87r3IKISZZWPApdld4Onilo9nQUJthXmN6beLU9Gs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.679+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SUMF1

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.679+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAAgzq5V7Ox91tlCmMTomFmEA9B3ZYaeex CZf-NoG-1o
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.680+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA79sNtMPao0qIYLSg7o5eucw5n-ssDGD6Vg0OIgCIWOk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.681+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Vitamin K-dependent clotting factors, combined deficiency of, 1
type: C4873
type: DOID_0050177

RAxYcGm-43xF4M544-wE5Kn EIKRi8zpCYg2xEmRkb6i8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.681+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA0NERGch2ZQ2lEeNC1cWd-4WjMK2gP4hvyhXYoYyNesQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.682+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Corpus callosum, partial agenesis of
type: C4873
type: DOID_0050177

RAEmWdVkZ-8PlwjQq730jzJmKC5kwJ5qukWa9fW49USyw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.682+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

L1CAM

RAfk U4NhmZrYYMAfJWGKvnxzOFwc66IAY0Y-ihOm3xWU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.683+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cardiac valvular dysplasia, X-linked
type: C4873
type: DOID_0050177

RAv36UQD9aU1lw3RjkrW LK QSB2hrG8tcE Sxdy1g5FY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.683+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAJZwO1lfC8aHyhCkvuhmdQ3LhOXxcAlY3UrMqbA2TJnM
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.684+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Branchiootic syndrome 1
type: C4873
type: DOID_0050177

RAC3aF3VDCv4VGcR9Y4wB2tj1d2ehsQam7gxbeqsUV3M8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.684+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAwnzlxJYRjbHbqEQbhMeUwqjKf6NC9UUhtXMXandcFzI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.685+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Epiphyseal dysplasia, multiple, 5
type: C4873
type: DOID_0050177

RAVTdNfI0ZGYM-z-jRcUmukVO4z-8z7wmudG3o9cKnHSw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.685+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MATN3

RAJhNcnCKEqnSjt3J8-fgy5of2XR0WatagGjrprQUL1GE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.686+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Immunodeficiency, common variable, 1
type: C4873
type: DOID_0050177

RA5WdhReZio-behCVdKfTZu6xYOeKrxH4d1chnl8OSLZo
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.686+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ICOS

RA5aDUmJ836YhM4sT6dlCIpnq9qNq-HVV-w7QTOOwGOHg
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.687+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Rubinstein-Taybi syndrome 2
type: C4873
type: DOID_0050177

RAVrqZAH6jg3pXbRUMNzP7U6178pfl5Rmtibd60hiPc5w
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.688+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

EP300

RApX40whKGoOgLQaDjFHwlWxNhGDVLEICee-KB6Q81BMQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.688+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Desbuquois dysplasia 1
type: C4873
type: DOID_0050177

RAgGVBMyTNhgtvWlKc7n2cuh11YP0cwOTLMYF YtPU8vs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.689+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CANT1

RAxkOkvtTqntX552zLoj7dntC7J3N3vlChDI3kf-HKknk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.690+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mucopolysaccharidosis type IIIC (Sanfilippo C)
type: C4873
type: DOID_0050177

RAkSa3A7YQ0dIz1vdMMw3I-8F0nnLMq3vbyZFDYO8-o38
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.690+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HGSNAT

RA hfxgY61Ny5okO5CRvc6c7UPqBo4bVIlXXH91JcCTcI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.691+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Noonan syndrome 3
type: C4873
type: DOID_0050177

RAMLZmzMb8E7op08xP1YvgDHHijdqYs6O4ztsBE9usH8g
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.691+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KRAS

RA8RzCVT uqPyVccUqVHP3ttX9Q2-CEHPE-ZmyYBbk5pU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.692+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Microphthalmia, syndromic 2
type: C4873
type: DOID_0050177

RAYWVq6sH3gqXa 9vn952beSBv3BSHXClkPHEEvVhvxK8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.692+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BCOR

RAB7KiTzJNG0QM-W-nKKwGf7ej-1TM9NxAdPY3FmSxago
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.693+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Microphthalmia, isolated 2
type: C4873
type: DOID_0050177

RAtxMLOECPWoJftJYgjo4R5lWowgObcKYHg9ql99rUY5o
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.693+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

VSX2

RAXQt 8SEubaMeX3DpZUGHjEoqZieNlUyu3IWhhWTpW8c
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.694+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Microphthalmia, isolated 3
type: C4873
type: DOID_0050177

RAc6J2xL6CI1Qq9NDITSSs0cCjdN55YEirqTpll5plvSA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.695+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAX

RAU9zXaBiqEVMoLPPXGrvKnQ93wvOGVEOPVtuvNZD93U8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.695+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Seckel syndrome 1
type: C4873
type: DOID_0050177

RAb-NWYCsSJ-wEkD39AoS8QC8EjnczUdB84KvFuxdAaxg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.696+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ATR

RAi5wVmJ4BzsGcvfkbXGhz62Y n-TTUN9C1p1JuXhLMFM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.697+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Alstrom syndrome
type: C4873
type: DOID_0050177

RA0nMKXVc3pQhPDPCNC9sUtXhiiAi7-1qiU0PR3Vx8vZk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.697+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ALMS1

RA8J6pqSSriM9RrOCuoGd8vhDQYriT2A-tNvOhGQRHmWk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.698+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hermansky-Pudlak syndrome 4
type: C4873
type: DOID_0050177

RAeeP6D2DiAszxfyehs KnARm6ELjo8eJgfnNEsIqMdDU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.698+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HPS4

RAe5aqLRIjUnNYq-JySXiU9xYFycOiDMXhJJSm2oCTmyA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.699+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Single median maxillary central incisor
type: C4873
type: DOID_0050177

RA 9muYkHchvznTLDRx4rAsGWbPiX5BxvEBPkCbXnsjOk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.699+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SHH

RAGexL4YzC8FsKv1RElRh8PyydaokNLQDqwj 0h9ZKct4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.700+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Wolff-Parkinson-White syndrome
type: C4873
type: DOID_0050177

RAvOmfItlUOlrljOIyxbhRU5EA9k81u-bwHL6OCaZaYzg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.700+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PRKAG2

RANysayTnYsBTOvcs9NUSwnVrf28Ch3DaF cXZdTTsvi0
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.701+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Xanthinuria, type I
type: C4873
type: DOID_0050177

RAWLqpK8REzQtdz-Pz7gb0XZAQ4NMn19IMpZwt4 EqNoI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.701+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

XDH

RARi38 XoCV EMOWgrGOLb4m19tbpN-R2hoid30rFYwY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.702+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Filippi syndrome
type: C4873
type: DOID_0050177

RAKNzKDBUT958NXktLTaD56C0ee9 8KtzXookq0bXnqAU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.702+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CKAP2L

RAcDzqtWTHgKbfTvBpTlqdEywwL7Czlzq1RHrR5kpyys8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.703+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Microphthalmia, syndromic 13
type: C4873
type: DOID_0050177

RAS2HxfTYFIZJSyjOVOkMd45JZlKy5iS2iXxAxslFenBU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.704+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HMGB3

RAu-5aQFoc KhPJ4Dh-6jH4XzygvRVT2cgq yjESVyjRc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.704+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Neu-Laxova syndrome 1
type: C4873
type: DOID_0050177

RAHQBKADISPaQhAKPlQqCzgzWRtP2JY02o9pOvOQBXpcw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.705+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PHGDH

RApqf4JoxHDx OcrUGiY5hRKdpNxmvKrkt0b-ZhYJCT3Q
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.705+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Coloboma, ocular
type: C4873
type: DOID_0050177
label: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation

RAZUI5gAjJgCgP59j2E1h-xm2onQHPbfSta2Jg9iETnks
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.706+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

YAP1

RAo3L-KXnOYJUVu20BShXxU4c57w395Wz9KOOf0ZroKI4
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.706+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAiLeQTeTdNlf3w9hwmyhr686i2HGKBWyRzI1MMVCBKiI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:54.707+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

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created: 2019-04-01T11:08:54.707+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Question mark ears, isolated
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

EDN1

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Winchester syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.709+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MMP14

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Joubert syndrome 17
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
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RAAt610m3wue8km5wjvC2ucIST150yKOb3BgjpPan4Ubo
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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Muscular dystrophy, limb-girdle, type 1E
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DNAJB6

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created: 2019-04-01T11:08:54.712+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Congenital short bowel syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.713+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CLMP

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Scott syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.714+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ANO6

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mirror movements 1
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.715+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DCC

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created: 2019-04-01T11:08:54.716+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Fibrosis of extraocular muscles, congenital, 3A
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.716+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TUBB3

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Aromatase excess syndrome
type: C4873
type: DOID_0050177

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CYP19A1

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created: 2019-04-01T11:08:54.718+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Sick sinus syndrome 2
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
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HCN4

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Optic atrophy 3 with cataract
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.720+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

OPA3

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Abetalipoproteinemia
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.721+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MTTP

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hydroxykynureninuria
type: C4873
type: DOID_0050177

RARC3KZm9gjZfPeG--XnmYtZkfslLGcZwaAsW1DVZJJMs
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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KYNU

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mismatch repair cancer syndrome
type: C4873
type: DOID_0050177

RARU7aurnY95WqTJBTNfAGXCOmEIoHM9h5CMTgZYnPsHg
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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MSH2

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cardiomyopathy, dilated, 2A
type: C4873
type: DOID_0050177

RAr9BgCnTEz6u42shQUvkWAFCFj88KYLLx8WMDvlFZyDk
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TNNI3

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rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Microcephaly and chorioretinopathy, autosomal recessive, 1
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.725+02:00
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TUBGCP6

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Stickler syndrome, type V
type: C4873
type: DOID_0050177

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA87Qh4SjSt2O6sGBXm5IBO2W5-EImU96KZ Z34Pzn9IE
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created: 2019-04-01T11:08:54.727+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Microcephalic osteodysplastic primordial dwarfism, type I
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:54.727+02:00
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created by: http://orcid.org/0000-0001-7542-0286
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RNU4ATAC

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Megaloblastic anemia due to dihydrofolate reductase deficiency
type: C4873
type: DOID_0050177

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DHFR

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created by: http://orcid.org/0000-0001-7542-0286
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RAroFDIZ8AYhH-MrkmCNeOZob7bI-vK28OYpGyZSEOW98
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created: 2019-04-01T11:08:54.729+02:00
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RApg8eVhrq3lyuZtjH0gZb-r9XJwsyw46JZerW3beRKlg
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RAk5Wna9vFRPJZ1KMTGwkpyUN7MLdzFXZdWOUMFI3ur7g
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TBX1

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Iron-refractory iron deficiency anemia
type: C4873
type: DOID_0050177

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TMPRSS6

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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Noonan syndrome 4
type: C4873
type: DOID_0050177

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RAfbSAdcaszPlobl1R8ROkjV0Csr2TXOxiqPeX8-Ktik4
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RAVhHexSgTil19OVVP1-gmfjCOFHz0I1utP8cE23lEx M
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RAKNuD7POE9Tp2NtBGJGB6jXq3 dZIti96AqgzJ7kDnDo
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Noonan syndrome 5
type: C4873
type: DOID_0050177

RA6U JkcI7NoZcCbiIiaqboqbngPtYoFJWviGFtfVIhmk
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RAF1

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Fibrodysplasia ossificans progressiva
type: C4873
type: DOID_0050177

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ACVR1

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Hypophosphatemic rickets with hypercalciuria
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Senior-Loken syndrome 5
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Microphthalmia, syndromic 5
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