RAwQX66yDZ0A4QV0mYHaayivhCRXPcgxvm L5canE-BGM
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.496+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

PHKA1

Muscle glycogenosis

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.497+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

GRIA3

Mental retardation, X-linked 94

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.498+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

Cardiac arrhythmia, ankyrin-B-related
type: C4873
type: DOID_0050177
label: Long QT syndrome 4

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has provenance: provenance
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created: 2019-04-01T11:08:52.499+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

ANK2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.499+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

RAvAUuv0gTz jEB0E81ic3NAzDpHrFdR5wIAvLwg4Nxu4
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.500+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

RAk6QTshiqE6MRh4RxxNoN1j8JUMwh4P-nU tCESHFBiU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.501+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

Hypocalcemia, autosomal dominant, with Bartter syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.502+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

CASR

RA6f6QLj9I2nth56hZA1vI58ALu5mGBZrVXL8E2LX8UxI
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.502+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

Exudative vitreoretinopathy 4
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.503+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

LRP5

RAHHiYZMpmwTYXISAgoVfYoLKzMj5Hfr mrxswdIWwY48
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.504+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

TP63

Limb-mammary syndrome

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.505+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

Spastic paraplegia 8, autosomal dominant
type: C4873
type: DOID_0050177

RAE6NEeVPySmEcqVnkev0PutB4M-Qkwu4mxG0XJGXdlzI
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.506+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

WASHC5

RA735yUUDgCqSoDROfDEosvAqwXqlfOlnKo4SnT1cdN8w
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.506+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

Spinocerebellar ataxia 11
type: C4873
type: DOID_0050177

RA xUW Qy-4Kbi3OKjsU-DHD6mGklUz411 mD95lkYOuk
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.507+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

TTBK2

RAAOGeVMZthEoERmobz-cfmexRYvNR0d2D HWNZs9toj4
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.508+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

Deafness, autosomal dominant 25
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.508+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

SLC17A8

RAGKJzM5OPfouTiiR7MzmVhgxrfjjxwgtpBQlNFsBVn8I
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.509+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

Myasthenic syndrome, congenital, 4A, slow-channel
type: C4873
type: DOID_0050177

RA07elofwC7DgOaIHLFU m9LD165fYg3fg9pvDZyrxzgY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.511+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

Peeling skin syndrome 2
type: C4873
type: DOID_0050177

RAIuOvwBCuxmvhbFX1bhcru5YE-coLNH18-ocNypPsnPU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.511+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

TGM5

RAOXXrICFogrSC9tlbnZ68Naryr7Hb9dx9lwj42Hj1rwM
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.512+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

UMOD

Glomerulocystic kidney disease with hyperuricemia and isosthenuria

RA26axIFBDCEQMCcIBpNlk9-cTPIqIwLZSHhN1VqfCxiU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.513+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

Long QT syndrome-11
type: C4873
type: DOID_0050177

RAtZySw-aRBvYfRgeSSbaP-Dnhl2ZQLyIAP1lSrMYV3AA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.514+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

AKAP9

RAJkqsihTCDqCKon43fqGiJfoyVK5wE1XmggeTMO6JjxM
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.514+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

Cone-rod dystrophy 9
type: C4873
type: DOID_0050177

RAOlsF qwATVg4Ey kzvqkqhBUZuhLNn4jkuPKTLUvmg
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.515+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

SESAME syndrome
type: C4873
type: DOID_0050177

RAALiH2RZDSUqmasQkNPIiAmSnxpXlpSedeFbNowQa5J4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.516+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

KCNJ10

RA82CJuXb3GMT2N-nuF4QC8aS0Lu6PvTK0iwudZoHnvJ8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.517+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

PYCR1

Cutis laxa, autosomal recessive, type IIB

RA15d2i3ALGtNO TRryXcLxOm3cRpo-CKqcM Mzq-UPvo
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.519+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

CATSPER1

Spermatogenic failure 7

RA79y6ERYFxoKI2hskF89DMdibRHEVzVaSU o X8O2wls
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.519+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

Polycystic kidney disease 2
type: C4873
type: DOID_0050177

RAJ0kkDs92JeZJ9YeYzYElaGL7yo7 -hYncGNh30njHig
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.520+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

PKD2

RArzeAF1D4S-uXEd9uJ7rqvdDR4eKRhpOVmwQVNUMx6lw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.520+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

Neutropenia, severe congenital 2, autosomal dominant
type: C4873
type: DOID_0050177

RAx6GhaTHNsnMH5KuwarUlMHXuaxa3yYhFfV9tCQwyUts
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.521+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

GFI1

RAKUwcrrh5jLSPYmoOi iy1vkUaTkw4QXeYE9n8g3Dsrg
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.522+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

KCNJ2

Atrial fibrillation, familial, 9

RApFsGLEKaR4zFLZsltJPMiv4rGJOIHOTAo487PLwaQVM
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.523+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

N-acetylaspartate deficiency
type: C4873
type: DOID_0050177

RAuycHf4Aqhb3ihwAdlXMViUN4qqOobKiwSJ94YtUbUa4
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.524+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

Platelet-activating factor acetylhydrolase deficiency
type: C4873
type: DOID_0050177

RAm26DJ7ojwPFmp9Qpeu65w0kbSuamErm2Uie4hvILa3I
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.525+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

Coenzyme Q10 deficiency, primary, 5
type: C4873
type: DOID_0050177

RAuBBkuVD XwDsgufw7r2RGzQ1EiPgU M8szr1-JJQ5k4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.526+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

Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects
type: C4873
type: DOID_0050177

RAO1X4PLd91Uc1NwZld1Jv7GDscqpWYblp6q8NnsvIbrg
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.526+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

AGRN

RAvaVs5E- XX9CcHlNZEJHtJcijM-9LS5izu9S3LQMDHQ
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.527+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

Polycystic liver disease 2
type: C4873
type: DOID_0050177

RANSWsAzLgh06x6iAYi4rqXnnMhn34BhygbQhVD0tOEuo
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.527+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

SEC63

RAG-IdchD6myDhz9PRQtYDnHsf81lj8MjXd6lRht2JNlg
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.529+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LRPAP1

Myopia 23, autosomal recessive

RAmYDQpK2K2pFSMgtYHTsXkpw q6IPZLhgRDbKfiLyTQE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.529+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Myopia 22, autosomal dominant
type: C4873
type: DOID_0050177

RAwcX2RIou2iGn-Celttk-uIqKNqrq081wf7GBstzRVgM
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.530+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

PRIMPOL

RAGaQmplm85cQnj-Lnbkm9pJwT8 Ldta97m1IZNvw 6w
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.530+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

[Hereditary persistence of alpha-fetoprotein]
type: C4873
type: DOID_0050177

RAFmk2XXgeStEZdU58F9N4vNDxkTHRRmIUY9dW4TDBOtU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.532+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TECRL

Ventricular tachycardia, catecholaminergic polymorphic, 3

RAqxgg6bXG1ZnzjJFRKQMBxK1oTCaTSWh7ZjiO51L55AQ
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.533+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

Cataract 34, multiple types
type: C4873
type: DOID_0050177

RArOugcBP1TkYZFWokkWfJLruBSAQQDT-KGquLfVbDtdU
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.534+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FOXE3

RArxaT7bYh5ek4cUelvCSFSkX4Y1NWCk3TbHDPP9qQqes
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.534+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Portal hypertension, noncirrhotic
type: C4873
type: DOID_0050177

RA5k-gRwvXcJ1Q3cfy5dxHkqadba6VdIFY5fs9DmDkIeA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.535+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

DGUOK

RA9Zg6JZ0uImqNsYrH5DWlIX6ZfFS 2jcOcZeI4YkckHg
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.535+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

Nephrotic syndrome, type 11
type: C4873
type: DOID_0050177

RAiLXSvNsDrpkJRFqC8-hzzXM1D7jEjxhGVwQHpsgQ7yM
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.536+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

NUP107

RAvGHBohrw2yH4uGNDNVBOW6UNMqLzJGsJsi5ojViVfcI
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.537+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

LSS

Cataract 44

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

Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.541+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

?Deafness, autosomal recessive 103
type: C4873
type: DOID_0050177

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

CLIC5

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created by: 0000-0002-7770-620X

Hyperprolactinemia
type: C4873
type: DOID_0050177

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

PRLR

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created: 2019-04-01T11:08:52.543+02:00
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created by: 0000-0002-7770-620X

Mental retardation, X-linked 98
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.544+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NEXMIF

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

Spinocerebellar ataxia, autosomal recessive 7
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.545+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

TPP1

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created: 2019-04-01T11:08:52.546+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Renal hypodysplasia/aplasia 2
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.546+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

FGF20

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type: Nanopublication
created: 2019-04-01T11:08:52.547+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

Mitochondrial pyruvate carrier deficiency
type: C4873
type: DOID_0050177

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type: Nanopublication
created: 2019-04-01T11:08:52.548+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

MPC1

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created: 2019-04-01T11:08:52.549+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Arterial calcification, generalized, of infancy, 2
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.551+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MIR184

EDICT syndrome

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created: 2019-04-01T11:08:52.553+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TRPV4

Digital arthropathy-brachydactyly, familial

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created: 2019-04-01T11:08:52.554+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hydatidiform mole, recurrent, 2
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.554+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KHDC3L

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.555+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
type: C4873
type: DOID_0050177

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.556+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

IGFBP7

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.557+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CEP57

Mosaic variegated aneuploidy syndrome 2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.560+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Guttmacher syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.562+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GP1BA

von Willebrand disease, platelet-type

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.562+02:00
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 10
type: C4873
type: DOID_0050177

RA-shzu311GfE4VMlaR81qo6cqV-ie3pgo2u-P-LcMYy4
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.564+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hyperlipoproteinemia, type Ib
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.564+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

APOC2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.565+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Bamforth-Lazarus syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.566+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FOXE1

RADQGcPCr1pehQMwmk 1BNDeqN6ssrkOtc1bsjQrg56-w
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.566+02:00
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 syndromic, Christianson type
type: C4873
type: DOID_0050177

RAyzKlFCvf5D9SwNekyTeUPCLAUaPN-z N-WWbd11gunc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.568+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ovarian dysgenesis 2
type: C4873
type: DOID_0050177
label: Premature ovarian failure 4

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.569+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAmpTXApn79s0DWzhNwpgS846A5aPk2w1vXizLFm6R77o
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.570+02:00
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, syndromic 14
type: C4873
type: DOID_0050177

RAu7XtCKavY6B-mWt9GbDAaFtailyerGmmiQcsm4mmDOc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.571+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

UPF3B

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.572+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MYH14

Deafness, autosomal dominant 4A

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has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.573+02:00
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 17
type: C4873
type: DOID_0050177

RApV-5pyAfGkZ54A 1b0g4eO3na0O7UfDsGJ2vTO4x6 A
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.573+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CA4

RAiKelmfqgPXCCoKUuU7-kL2qmWg4GN27y9SRJN0avKhQ
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.574+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Desmosterolosis
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.575+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DHCR24

RACxNq5R0Y9vcxdEf3VTxGGMpMH0sxR18KnkaAFdzYV2c
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.575+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ichthyosis, congenital, autosomal recessive 11
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.576+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ST14

RAry5uJrBvds bz6twxlca86g5M-FAdJIRvbkNC7v4DAY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.577+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Myopathy, proximal, with early respiratory muscle involvement
type: C4873
type: DOID_0050177

RAx4JUYFvlOJz6vNmiv5QCW hXxnqfzxmddgukUTNE2Xg
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.577+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TTN

RA 47jYMBOGxE2MZFWr90X6EmvpEqLMrgIO7PNCA5-bxo
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.578+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

Duane retraction syndrome 2
type: C4873
type: DOID_0050177

RA9-vc5dk6V4El5XrFpWNDbI OnchiFTNJVksic6LoSFg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.579+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CHN1

RAsi-zHafsesdJwrZZijfui7IXVjhTunUs60KxvxUG7rk
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has provenance: provenance
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created: 2019-04-01T11:08:52.579+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Bare lymphocyte syndrome, type I, due to TAP2 deficiency
type: C4873
type: DOID_0050177

RAMIV eNl33zRSZCSYc5E9T6QtaHlkj3LrXJEPznoM4Mk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.580+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TAP2

RANy539WtdUhNphBmsxNGQmGwLmR97y-t-BZFedoqrfMU
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.581+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Neuropathy, hereditary motor and sensory, Russe type
type: C4873
type: DOID_0050177

RAE879d3361cWfvWkwSKD4Zxz-fCo 92XPvD5oze7aLJ8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.581+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HK1

RABrts1LW1lCuCsY05qTFU7gRwoJy4IScO7URcxTp7GWU
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has provenance: provenance
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created: 2019-04-01T11:08:52.583+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CRELD1

Atrioventricular septal defect, partial, with heterotaxy syndrome

RAkWogLfW6oeFKFPR6gchtEngiLh0VcyMuiYdfwjiCsDw
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has provenance: provenance
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created: 2019-04-01T11:08:52.583+02:00
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 recessive 31
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.584+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

WHRN

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created: 2019-04-01T11:08:52.585+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Anauxetic dysplasia
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.586+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Corneal dystrophy, Avellino type
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.586+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TGFBI

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created: 2019-04-01T11:08:52.587+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Caudal duplication anomaly
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.588+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AXIN1

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created: 2019-04-01T11:08:52.590+02:00
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 with mitochondrial DNA deletions, autosomal dominant 3
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.591+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Bleeding disorder, platelet-type, 8
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.592+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

P2RY12

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created: 2019-04-01T11:08:52.594+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TUBB2B

Polymicrogyria, symmetric or asymmetric

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created: 2019-04-01T11:08:52.595+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SERKAL syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.596+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

WNT4

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created: 2019-04-01T11:08:52.598+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

KCNA5

Atrial fibrillation, familial, 7

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created: 2019-04-01T11:08:52.598+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Long QT syndrome 12
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.599+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SNTA1

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created: 2019-04-01T11:08:52.600+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Premature ovarian failure 7
type: C4873
type: DOID_0050177

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has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.600+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NR5A1

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created: 2019-04-01T11:08:52.602+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ACTC1

Left ventricular noncompaction 4

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

Cyanosis, transient neonatal
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.603+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HBG2

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created: 2019-04-01T11:08:52.604+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Atrial fibrillation, familial, 10
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.604+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SCN5A

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.605+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hepatic lipase deficiency
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.606+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Atrial fibrillation, familial, 11
type: C4873
type: DOID_0050177

RAv2A7Tq9GnX-gtj f89f16Q6Vu5FhuIpsSdEldxhISt4
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.607+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GJA5

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created: 2019-04-01T11:08:52.609+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Myopia 24, autosomal dominant
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.609+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC39A5

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type: Nanopublication
created: 2019-04-01T11:08:52.610+02:00
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 recessive 68
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.611+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

S1PR2

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created: 2019-04-01T11:08:52.611+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Heimler syndrome 2
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.613+02:00
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, optic atrophy, and neuropathy
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.613+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KLC2

RADaJgkDLRHUWofZdHBTVGvfZYqP26np9-59ZWc-UTOL4
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created: 2019-04-01T11:08:52.614+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Rhizomelic chondrodysplasia punctata, type 5
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.615+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Immunodeficiency 39
type: C4873
type: DOID_0050177

RA9IUseKSYvfqtlkmHTub9jA6zlU667gn2gNwABit2wRM
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.616+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

IRF7

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.617+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

Mandibulofacial dysostosis with alopecia,
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.617+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

EDNRA

RAuclkU8Qkn -G1Ie-4huAdkYn9HMxXQqvTVsv0SjHzzQ
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.618+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

?Deafness, autosomal recessive 66
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.619+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

DCDC2

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created: 2019-04-01T11:08:52.619+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

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

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created: 2019-04-01T11:08:52.620+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

HNRNPDL

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created: 2019-04-01T11:08:52.621+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

Myopathy, tubular aggregate, 2
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.621+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

ORAI1

RAvDXucktqEEJHbfKxIa5VptzwW-DAYoi-GLYFETG8zME
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created: 2019-04-01T11:08:52.623+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

ADCY1

Deafness, autosomal recessive 44

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created: 2019-04-01T11:08:52.623+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spondylometaphyseal dysplasia with cone-rod dystrophy
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.624+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

PCYT1A

RAgpXxk04 U3RzXeAfs8qOY3KeOUsUdymwCfvnFupqKN8
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has provenance: provenance
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created: 2019-04-01T11:08:52.625+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

Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.626+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

Immunodeficiency 11
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.628+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

MED13L

Mental retardation and distinctive facial features with or without cardiac defects

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created: 2019-04-01T11:08:52.630+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

Ciliary dyskinesia, primary
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.631+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

DRC1

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created: 2019-04-01T11:08:52.632+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

Weill-Marchesani syndrome 3, recessive
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.632+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

LTBP2

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created: 2019-04-01T11:08:52.633+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

Seckel syndrome 2
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
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created: 2019-04-01T11:08:52.634+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

Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.635+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

BOLA3

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created: 2019-04-01T11:08:52.635+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

Warburg micro syndrome 3
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.638+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

Meier-Gorlin syndrome 2
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.639+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

Meier-Gorlin syndrome 4
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.642+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

Myoclonic epilepsy, infantile, familial
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.643+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

TBC1D24

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type: Nanopublication
created: 2019-04-01T11:08:52.643+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

Hypotrichosis 1
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.644+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

APCDD1

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created: 2019-04-01T11:08:52.645+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

Mental retardation, X-linked 72
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.645+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

RAB39B

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created: 2019-04-01T11:08:52.646+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

Medulloblastoma, desmoplastic
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.648+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

Retinitis pigmentosa 9
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.648+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

RP9

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.649+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Emery-Dreifuss muscular dystrophy 2, AD
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.649+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LMNA

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.650+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAmdw e xPVi82Ho5ivYrvaJFM7iPreQaizX-HOPTFa5E
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.651+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

RA6H8K5TB4XxFJnvFnnNQnk91bqfPsGVlH8LL2kOCYOxo
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.651+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

Molybdenum cofactor deficiency B
type: C4873
type: DOID_0050177

RAnZZc432a68h7bAxOa6tbr8osE6zII8S-jlWp9UNbO6M
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.652+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MOCS2

RAM1iHS DFHdyrm-JlGabwx0vFnGa7FlSRSC4bXQwbRsA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.653+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

Rickets, vitamin D-resistant, type IIA
type: C4873
type: DOID_0050177

RAOupVJS9GzcB49K5afYsZXWiDsGY33Ys4u8E8kqSInbA
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.655+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

ARX

Hydranencephaly with abnormal genitalia
type: C4873
type: DOID_0050177
label: Lissencephaly, X-linked 2

RA9YxdUDh-Q07rClSikSlw83pBXtODmnsBhGyC i9m7dM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.655+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

RA5MDN4M-DPcZKZGD4BVNtPUvvJMAXdtQJEKLuPnTYbLA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.657+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

Mental retardation, X-linked 97
type: C4873
type: DOID_0050177

RAvCw m0qzgr1v8L0ax3eE aKHA-vahCPl7fdkgBUGHJY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.658+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

Rickets due to defect in vitamin D 25-hydroxylation
type: C4873
type: DOID_0050177

RA cvKwZWhFHozqMLCGHnefOq jaxCjCBzuatjfoHvtH0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.659+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

CYP2R1

RAJXUIzCqE7d1bTEXabLsm XZeb yO1FxFZ9OqA cQGew
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.660+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

Retinitis pigmentosa 25
type: C4873
type: DOID_0050177

RA7COAAAGxa9WejvD74OiFZQTknVLfahRIYds1WN5rW0s
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.660+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

EYS

RAMOUgce557M-2iZqMOOEN 9HoHnVQHzTXjzk2LyCxUTI
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.661+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

Arrhythmogenic right ventricular dysplasia 5
type: C4873
type: DOID_0050177

RAzZoZ7nbMAtJVrPGmo3ALKh5k19P9wXyIWSu1dhIH7Ek
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.661+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

TMEM43

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.663+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

TYR

Albinism, oculocutaneous, type IB

RA3NQpDgFwKmhiiuMZb-eCFZAyssXJyvvy1Apu 47fJow
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.663+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

HARP syndrome
type: C4873
type: DOID_0050177

RA01H2fldrcOyND7iQ4DwKQshpM5L4NTGTfRzJ5H3QcsM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.664+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

PANK2

RADwK5YXg5-toL8v45-vtNhoZChK7weTBPmOVp4cP1zQs
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.665+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

Arrhythmogenic right ventricular dysplasia 9
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.665+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

PKP2

RAojsfuARE8yUHyfy9AmCiymBEBvhvuPlHBJkEWldQLsY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.666+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

Polyposis syndrome, hereditary mixed, 2
type: C4873
type: DOID_0050177

RAOgZBL1SyzCnkOvuxLX6gnjiK3X-BZhlVLvIT2o656RI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.667+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

Congenital disorder of glycosylation, type In
type: C4873
type: DOID_0050177

RAyuWjFL2B7RiHcEyqa 52akjEcOKFuRa-13ZYSqv6lVA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.668+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

RFT1

RArmhBemZ2ZsyWkYLTQuXvYg5BtPn8TDJh9MWWMXuAUYE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.669+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

Crouzon syndrome with acanthosis nigricans
type: C4873
type: DOID_0050177

RA9yDV5J-zeBDy336UXNC0iV88pkFh7FVPJj64pBk6T0A
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.669+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

FGFR3

RAqwMzDrQ0FDNoWTe9e1qqwN33UJ0GQA1vUMAL9nvoJAg
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.670+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

Glycogen storage disease XI
type: C4873
type: DOID_0050177

RAi6MMb1ie-jiy4Q4g4R-9-srAIzTjuE79K2uSN2LtsBo
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.670+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

LDHA

RAtAnHdgEtvkbIhfoapZ3qjiHVP7JCqJuEia6zqsMbSuc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.671+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

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
type: C4873
type: DOID_0050177

RA6GYtCE0xh6boOrqeIWRhdlGqVuVZrij cgiGfziUHlI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.672+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

Myxoid liposarcoma
type: C4873
type: DOID_0050177

RAzXR9ZzlU27Mr101MwdnaCK cbBNF-ptVsCnSs4hrg9c
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.673+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

DDIT3

RA7HwtU1Hfxm9qADwAwsAen6rb88OCngvuMzuNyySrsGk
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.674+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

Epilepsy, generalized, with febrile seizures plus, type 7
type: C4873
type: DOID_0050177
label: Febrile seizures, familial, 3B

RAOqRz24P 3iQ7Sw09FwQ5QLhEXVv3IAdme8FS1YqVnJI
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.674+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

SCN9A

RA3DSdfeqVkfAa3GayAZSCDT9Uv6j05sk 5RMTsingW1g
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.675+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

RANDaCWeb 2dSp8vGz-7AY8k5lUnJO4gQ94sBTyg8yeRs
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.677+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

OKT4 epitope deficiency
type: C4873
type: DOID_0050177

RAzJheWXZ6XTc7vwQwOemsCCAciTDLGW9IQKwVMPcMjJ8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.677+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CD4

RAxEZsnrHI4Y0NMdf5Rxno1wrf4YupciV nR5UasoSQek
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.678+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

RAkRagcQYV 7-a9oJSnTkionfjs8Dh6UhnkVJD22cfbxc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.679+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

RAAPQ6kF39Oje6hkq29wyMNM-FZPvyT LuBBzYz4PDgUs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.680+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

Protein Z deficiency
type: C4873
type: DOID_0050177

RAH7T2TZ8YydAGhi0DeJVuxlI4RVPWQ6tyT26wcs-9P7w
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.681+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

PROZ

RAqTFoAwX0 GdGehvphehOXi9DfoFxl TB7TDaxAfOVbw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.682+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

A2M

Alpha-2-macroglobulin deficiency

RAp08qWtuaudhGgQiR8cP72QUPRAm67H9yKycrwm5RpoY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.683+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

Atrial fibrillation, familial, 12
type: C4873
type: DOID_0050177

RAzxSLCspsny5hi0M3YWv2s7VHZ1l3J2ltSoqwrD4hPRk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.684+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

ABCC9

RAHKUztS6F5xahQkz3TS0-DqMoF2sk9stCcVKX59mlms4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.684+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

Cutis laxa, autosomal recessive, type IB
type: C4873
type: DOID_0050177

RApGis BpUIc48grxcnaAe2xZn3pVvksAzsHlvugUvID8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.685+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

EFEMP2

RAiM8Qe9jgQalfdcZBkX5KxMmuE015IAFGTJET2DLdu8I
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.686+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

P4HA2

Myopia 25, autosomal dominant

RAq92OrsFYp7mya0dDWo-CzFAatWP025PBl1n9D26vX3w
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.687+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

Craniosynostosis and dental anomalies
type: C4873
type: DOID_0050177

RAuC6qFtomfExhUPk8GM1fqTzNSmtkZGQvN1-GFyD8DW4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.688+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

Osteogenesis imperfecta, type VI
type: C4873
type: DOID_0050177

RAyrniIFho2QOuElsyRDlXBwrnM UVcrDCkPv0ETiyjsg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.690+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

Short stature, optic nerve atrophy, and Pelger-Huet anomaly
type: C4873
type: DOID_0050177

RAqyTJqeoF1oEIUC7bWe6IEuqv7RCcweUjoGrev7LXwfU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.690+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

NBAS

RAkrQV-NzDykMobIYB2bi5I8XhzmxeC03MkG-uvLa5ODk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.691+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

Neuropathy, congenital hypomyelinating
type: C4873
type: DOID_0050177
label: Neuropathy, congenital hypomyelinating, 1

RA2Y105H4PPaAUZch-A06rD5O24YgehfZpv5huqdt-H5s
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.693+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

ERCC2

Xeroderma pigmentosum, group D

RA8Fzk 9WxHzHbBalPymrnSEVaEZJsuHDGvyMs9TxeYiw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.694+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

C8B

C8 deficiency, type II

RA0M1oXB2s P9Br0QNdX-aTwNoJygy6MvzwQ aGRzk2r8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.695+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

C4B deficiency
type: C4873
type: DOID_0050177

RAKs1 xSMw2MJ9jSUnZ8NmlwSZ H6wxLnS6y V3W3d2mA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.696+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

C4B

RA46BbgzY4NqJ2GFgsrGWn0yVZ-H39ZD-OOI1YGlT921w
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.697+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

C4a deficiency
type: C4873
type: DOID_0050177

RAFzuL7WRyGtqUm4CA9LuKA6tNYi43CpWAnd42grDy9Q0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.697+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

C4A

RAlYTZRJOz74RqZTDrfE7guxKVpNa4Dv 7ki2jAWQrgak
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.698+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

Lissencephaly 7 with cerebellar hypoplasia
type: C4873
type: DOID_0050177

RAilDup3gkeSvkRFFCMLKhSw2ThpE8FaKqklBOSeMCF90
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.699+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

CDK5

RACYCaZWLpYl05wVu2pNJXYWnhGBJr76MYuw AZQzIMUk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.699+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

Mental retardation, autosomal dominant 31
type: C4873
type: DOID_0050177

RAGP1d9H9r8zrYrx9lAHewk97wJhWOjH4vU2etrPSYDyk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.700+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

PURA

RA70ldRzwJ24MUe7u8K6F66JK-UxdsODqAlhXI0bx9jRc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.701+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

SPRTN

Ruijs-Aalfs syndrome

RAFtdF xjAsAPNiex-ymzCy2yJWXqj8iJjke p92R7Gig
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.703+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

VPS53

Pontocerebellar hypoplasia, type 2E

RAImq1NpBmsk7tkZ7dGpdkioUTMZuVZ011P-a-HHGv9pA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.703+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

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
type: C4873
type: DOID_0050177

RA0eh9AMPgIP-j9DznwD0lQznQYBbL8UsnuWaOuzojTu0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.705+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

Deafness, dystonia, and cerebral hypomyelination
type: C4873
type: DOID_0050177

RA8QSwmn3wZ1dpU7qkEMNEsv-RB3V0YVrKNY9YwoPJuzQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.706+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

BCAP31

RAAKCk-5k9hR9ALIxi7lq-t8 tvAdMlQjhnN6 0TthU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.706+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

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
type: C4873
type: DOID_0050177

RADLdy0laFIUWyxQLf7iOufLRUxJqEfzCPgD3DLzdJgp4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.708+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TUBB4A

Leukodystrophy, hypomyelinating, 6

RA3KDkC-JdEp7ZtgKhEc2NN1nfxb0dd fVl2lH4LrFpoQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.709+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spermatogenic failure 3
type: C4873
type: DOID_0050177

RAsI9VHTT6hte2AhwXHfCZ1-XT2waoJqijanxo3 KujN4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.711+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Renal-hepatic-pancreatic dysplasia 2
type: C4873
type: DOID_0050177

RAHJ0tljpd6fpcLrNvNqV4AM-8Z9xipNk7 rgjAi-PB5U
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.712+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

NEK8

RA579qW9kJ-8QQGc05lrJSP4jhwekAEqipcUw 3iUaNb8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.713+02:00
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 41
type: C4873
type: DOID_0050177

RANLmM7hwVS0oXIYgqyU0VuLmRKr2BF2QmtRNx1xuOfco
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.713+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

P2RX2

RAzn-gmTLE6qFnj-caRAndQtn913r7Ft1DUt5FkALaSa0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.714+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Autoimmune lymphoproliferative syndrome, type III
type: C4873
type: DOID_0050177

RAJ07UBkNOMuW6om0kTILfvEEmkHEuN2kmJHbjdSof9uw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.715+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

PRKCD

RAkm6yFQwwGB5TRBHPlhYyyAxORZzsUL6CHUvGn11or30
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.715+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

Spinocerebellar ataxia 19
type: C4873
type: DOID_0050177

RAzze8ULOswP-e0Q92K-zNVBhPuwn1NiCCxJ9rDjwhlGQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.716+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KCND3

RA2fSYXt9jvdXy-2vlGD5DtYbH5ebbrdAjtUEGNxvEetU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.717+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Koolen-De Vries syndrome
type: C4873
type: DOID_0050177

RAGlsmSaVRdlerup0-4le0dGHpr-T3ii6kBXB9Pg2fduE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.717+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KANSL1

RAhjc7ej97v0Qy7yDzSSjopDyAEFkfTLLwCVY GlosSlk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.718+02:00
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, primary, 3
type: C4873
type: DOID_0050177

RA-2Sh6UuQzug9WSs1aasnydRGPJAKI 03UReu7b91BFc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.718+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CAV1

RA YyOP 62MCgXVxYjJ-RMJDKQDpGfXaqXZ9BsCfcRWkw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.719+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Acrodysostosis 2, with or without hormone resistance
type: C4873
type: DOID_0050177

RAzBMVg0n8qBrO3GmqSliGTY7Q8Wx8XVOo0KO0SaxMTPM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.720+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PDE4D

RA1Tiuj2ayh1TQUnHZoKqe72flrOgSHz6XRh07hv1b82M
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.721+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

Cataract 18, autosomal recessive
type: C4873
type: DOID_0050177

RA4iAmGDcieckD0zJ00DP7oMaDtHTFRCbQyLD3bmnF IY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.722+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FYCO1

RAHgLeTT7Sq3CZJEm74 SVwpfm6WlmeIrWClo9vkKUT-A
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.723+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ichthyosis, congenital, autosomal recessive 8
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.724+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LIPN

RAilBXezdlmKHUaW5IroBHzmFKTOi-6cB9nRBerSqeBno
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has provenance: provenance
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created: 2019-04-01T11:08:52.725+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KRT74

Hypotrichosis 3

RADbWmSK81aRwLuK8uTgCprrr9ZQG6XSREOaMlqptrgvA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.726+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ichthyosis, congenital, autosomal recessive 9
type: C4873
type: DOID_0050177

RA6kNL16Wih3grhkcf-D6zv-9VnWG8 EQjnDnaH82Za6c
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.727+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

Diaphanospondylodysostosis
type: C4873
type: DOID_0050177

RAiaoBeRKOorcU2Gf 6Rae8-PNJl6X1C4w9l3k8nh7v5E
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.728+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BMPER

RAppNJ3QaC6kmYPP-46mPj1D-iVpHRWC9 jEKChQO4yQ8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.729+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ACTA2

Multisystemic smooth muscle dysfunction syndrome

RAzqlRxD8 pY0sWT1RPKc3piN-OkuapV19zAbIGhcRP3I
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.731+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FAM161A

Retinitis pigmentosa 28

RAhECCTnf511HhwQiEGX1qvvL78A6LmBCKRbHHVuuCAT0
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.731+02:00
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 8B
type: C4873
type: DOID_0050177

RAH rWN9i0pxP6lzBZdVSBXGJDiqmhuXEOLQe7HKYYFVM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.732+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PEX16

RAGLSF0UUusRLOy7GgXYZB3wNZHeSRfz 0j4GEJq1f1A
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.734+02:00
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 13
type: C4873
type: DOID_0050177

RAnkeo7Jc YUtX hwpYMus5n8DWbJrsCIgQivECU86QZw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.736+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Aldosteronism, glucocorticoid-remediable
type: C4873
type: DOID_0050177

RAGm8oKGhG4cBV1FSOhEq2ccLqSap2fpnEFjngqZKhexE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.736+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CYP11B1

RAnG52hirv4JIRgkAN eYpvHY0Z679497bxJbfOAmeSUI
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.737+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAEDlsAWSjgx a25g4HDCMpS1fVTVV0X IBE6-ubixmNE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.738+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA1OOF-Dn73VcEjQCOArU4jfAW66PqyrVTYm-Gos7rJYY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.738+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Complement component 4, partial deficiency of
type: C4873
type: DOID_0050177

RA2yL5N8jqYWD22WaUoH4Pt57ZcCrTeY7SfDEzxnEmJww
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.739+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SERPING1

RAnbcelkbdh4MQApJ26DyBYt2uN0qq8TURasrMGGhhpQs
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.740+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PAX3

Craniofacial-deafness-hand syndrome

RAilsM2nLjK6shZDSOfOxe0dXutXpywj3Wl6q5 28eY4o
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.741+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ATP1A3

Dystonia-12

RA39H1s4Use9vZBEZlP9UluLwd7O017e07G5289O4kKoQ
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.742+02:00
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 1B
type: C4873
type: DOID_0050177

RA64lNB-HKJFgESIv qRy8FJYgmigJ27H18GwbgdK9vZ0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.743+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAPwDLXfSRPhiTdEHnLONMSsAo5Xr9rIjUFEbwIKWa7JY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.743+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hyperphenylalaninemia, BH4-deficient, B
type: C4873
type: DOID_0050177

RAK61l5SuwWHq97SR33HAfVdKlHHgNKBc0hMB7lZgnvvc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.744+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GCH1

RAGx4soedQagPlvfOGCJKjhC9BMlq EgTrgQVxMsqzYok
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.745+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mitochondrial respiratory chain complex II deficiency
type: C4873
type: DOID_0050177

RAu3c0FrFPKCTKiPyZHxtM1WbqIefy5ZEtohUGvKECcmw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.745+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SDHA

RAEeNAmiIEpCCmi0FUrwyNxB9OFWbk0M0nDnWUOH588Lc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.746+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

D-bifunctional protein deficiency
type: C4873
type: DOID_0050177

RAKizy6w5Gss-A3R0RrmE5ZCTLkB ObdpEd4cc1SsiybI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.747+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HSD17B4

RAuvqdtrDuICIeWY1XhVzkFvkjy6y9s5rvurQ2UB 9H2g
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.747+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Alpha-2-plasmin inhibitor deficiency
type: C4873
type: DOID_0050177

RA2vRFa3imgcGrhOwELX0VRJfhT4Blj2yvtjZArQl32Lc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.748+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SERPINF2

RAxl9tUl2JnIxumMQpNhTlwLmR68iQ0FVwFuTJcvxuUY8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.749+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Congenital disorder of glycosylation, type Iic
type: C4873
type: DOID_0050177

RAHBksIHn3cUVhFY9XIWGYCq6zd57hOvWix6JRA5l MYU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.749+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC35C1

RAxLsool6AfI3CAxIfNQVHLq89VdMnv6-xpjy3dvwPE7Q
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.751+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAlCOe9DhkoLTGx2TVknmtN VtF06N8J-4wuRvtZYzz8Q
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.751+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Xeroderma pigmentosum, group F
type: C4873
type: DOID_0050177

RAwZENqOUVRb9PYsUJvJEz6cJEkyLM5eLdOYXnn2PnGoA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.752+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ERCC4

RAJVLDPh3bZyZsDV5eutAUYCbediit3Rf38LsJw9rOiuQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.753+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CLN8

Ceroid lipofuscinosis, neuronal, 8

RAzR3gg5VSKqHLQ6FvqJacRyt4jStmsFVVARSKCnhbfe0
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.754+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pituitary adenoma, prolactin-secreting
type: C4873
type: DOID_0050177

RA6j9v802jAK42lqXNDEWheZNWaXAADb-eYs42UPHHjio
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.755+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AIP

RAjeZfdbSATit5XCc7ezzx1uwyWU5DQ57WHIl67CU7jjo
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.755+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Budd-Chiari syndrome
type: C4873
type: DOID_0050177

RAP6emKcgRnjkIj-Hldvx35YzYZaEUTjDx1LGeqNHG0wM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.756+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

F5

RAzM3QN3n2FUHjRre7aWdJYgaFGo701pnv2rYNeSmJBY8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.757+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DTNA

Left ventricular noncompaction 1, with or without congenital heart defects

RAs6r6pCo4ncChSNgLD1D9JjhzGbQKVZx8HyLusNcZClk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.758+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Fumarase deficiency
type: C4873
type: DOID_0050177

RADwAjJ3FgZ2HyOlH2IT4Jnv s7OxWxHwee1vXPOpWj-M
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.759+02:00
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 with type B lipodystrophy
type: C4873
type: DOID_0050177

RAIEVj85pkXHsm2YNbXpwRjttEATn72BJEhOOm1cSSsl8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.760+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ZMPSTE24

RAwQ0ZRGsaFfHhbpHkvqbo0U 86VyA74sKAyqWCdp2vXQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.762+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC16A1

Hyperinsulinemic hypoglycemia, familial, 7

RA2qQq2femLMrE0JIgSZ9wuGYDIIAP6zQdmCp0nEVMkJk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.763+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Diaphragmatic hernia 3
type: C4873
type: DOID_0050177

RAH50ornudrejKzuG-ntGwEXTcFQPc84LgWC3AQAvDG24
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.764+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ZFPM2

RAEyy3TM8Gh7UVW2juBXaDj1gKqt7VCbvWZ4UoG944dN4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.765+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NPPA

Atrial fibrillation, familial, 6

RApNdJ4A aCWzXlDes4sHVnWM9epHsp3M2nQZsGu7Bi7w
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.766+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Thrombophilia due to protein S deficiency, autosomal dominant
type: C4873
type: DOID_0050177

RA8ACxCmspI 9UVqafkmr0nc-I7C8zUjkzMpzSWPFfFtM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.767+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PROS1

RAr85Fqd7hNCHNS0gH9WX4zBaiQeZ zGDjltioR5Bl8Yw
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.768+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RNASET2

Leukoencephalopathy, cystic, without megalencephaly

RAAPsVibIWbbfWzPklwTGn0QhVAnLMBpYpP U1U1ioAUs
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.769+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Bronchiectasis with or without elevated sweat chloride 2
type: C4873
type: DOID_0050177

RAz-IFGIAja73XvVSSLbqvZ6Kz7kKMjWl9yH-3NC9pevk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.769+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SCNN1A

RAm06srcijPcS-92pim9DNL1g1KiJqETj5lQrLbCWwPyk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.770+02:00
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 5
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.771+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CBX2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.771+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Thrombophilia due to elevated HRG
type: C4873
type: DOID_0050177
label: Thrombophilia due to HRG deficiency

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.773+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAPx72sSXJRBwZH NeLBFWhnUxcaV2EHXAFjTzg V0qRU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.774+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Birbeck granule deficiency
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.775+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CD207

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.776+02:00
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 5, with or without ocular abnormalities
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.776+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LAMB2

RADCVyM5T0cFMUpS8JKVQln0GlmbO50gVidRCtv2wUWF4
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.778+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CYP2B6

Efavirenz, poor metabolism of

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.778+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Emery-Dreifuss muscular dystrophy 3, AR
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.779+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAC1G1MejTnbRkUhRhJ3toB36Xqq2CQf4VvX--4TWMbfw
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.780+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spherocytosis, type 2
type: C4873
type: DOID_0050177

RAGo28fcjUodIdKfxHDmhakI-3a2sQu57yzz8JtVEgW3Q
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.780+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SPTB

RAx03b10-OgKmx8AoU6e6rY0TUOkNlXQX5PGXgvOiPu9w
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.781+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FBN1

Marfan lipodystrophy syndrome

RA79fXU0hWlAoP5ZBfH68XMvCIRRDw NxUJqYc3P75AbM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.782+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Advanced sleep phase syndrome, familial, 1
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.783+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PER2

RADsn8ZCGyKrnWE-ZC2mn My4j9 czGFHvlbJH4sRg1Qs
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.784+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CPT2

CPT II deficiency, lethal neonatal

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.785+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Leukocyte adhesion deficiency
type: C4873
type: DOID_0050177

RAjXut93O w2Ipe0JrXre6yuLxVfsWvjdDzMRglWDBfRg
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.785+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ITGB2

RA2fBaq 4XvknLZY9ooI1AE2MH4o0HujvFRG3d7IOf9-A
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.786+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Paget disease of bone 6
type: C4873
type: DOID_0050177

RANe4CMh74fK3MqsEp0zmGABd2bmoyhqFVuHoB6YedhQc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.787+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ZNF687

RA5275OMVPrkbcadxPwkHYgo3PON3pa1k9HRVp2RBuvMM
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.788+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KANK2

Palmoplantar keratoderma and woolly hair

RAhsHEO2LlH56ScfZLOTLvE6inx7XauK6YPs0I7blPIuw
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.790+02:00
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 1F
type: C4873
type: DOID_0050177

RAwbBSXfwN5sBPt Ws6zpatw5xz0NlQ3lUrmVI-P49kl8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.791+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TNPO3

RAs-KSlUsX0oSIal9mpBh98EiTkVIYkIyo3x6VOOMv3bQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.791+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAkI1HURZxiPBbmzcA59zvkW er-NjHzUMVR-4tM ultE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.792+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAg wCyn8tmJGpZeq4pb9zlP2Iud tUbiyvQ 22 3w7vQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.793+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ANO3

Dystonia 24

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.794+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Brown-Vialetto-Van Laere syndrome 2
type: C4873
type: DOID_0050177

RAnvrdpNOCpwoICljcz5loyQa6J7b7zhRDaNk8ACKZkkU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.795+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC52A2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.795+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pontocerebellar hypoplasia, type 1B
type: C4873
type: DOID_0050177

RAweOe3ZqmvHeHzk3s-bo8T4U1vvCvDZEhvcx0-omPXpA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.796+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

EXOSC3

RA0JiHKEUwafx4BBlB pUi4sq0gIOZ6HlFUCoOGu6ZImE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.797+02:00
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, 2
type: C4873
type: DOID_0050177

RADwROACWltx8rexZLxIHcN aBr7RZDX1clnVrWat SWU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.798+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypermanganesemia with dystonia 1
type: C4873
type: DOID_0050177

RAvw59cxBai CffyyZXOZi8DF788C85TdmCaYJtTyoS3k
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.799+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ichthyosis, congenital, autosomal recessive 10
type: C4873
type: DOID_0050177

RAy4QKfuX2e3naIsbbHTI8ZErQ9kJ jRiMHvkYG5B4nSk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.801+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RTN2

Spastic paraplegia 12, autosomal dominant

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.803+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CHSY1

Temtamy preaxial brachydactyly syndrome

RAn9QfA-675s-7KjzOCX2LrqhsuBgRJE1DKTz3kpesnKI
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.803+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mitchell-Riley syndrome
type: C4873
type: DOID_0050177

RA6QxmKN0UrsQ968TFtfeMFUQmwlAU73pk5sqSqdj8zaE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.805+02:00
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 5, juvenile
type: C4873
type: DOID_0050177

RAs2BJNT6T6cI KGRHdQ2U-Hpp5LvTRST8dIocHhdz768
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.806+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SPG11

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.806+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Miyoshi muscular dystrophy 3
type: C4873
type: DOID_0050177

RAG3OHtES7p4GYiUgNvt7YkPOrzPcQ7crdmnjgySrmsiM
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.807+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ANO5

RAyTTdp91S3ROPlv-fENhx7hXgbyjcIs7I2z6RgGTYIKw
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.808+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Alternating hemiplegia of childhood
type: C4873
type: DOID_0050177

RAiQzds44HHaPuYSsRT9Ev6wjBtMHwXJ0uiAZ11jMSwr4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.808+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ATP1A2

RA1S9PQzajloTEou8qDfobNsTrhXhMITiVXn1TGEbd36s
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.809+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Transient bullous of the newborn
type: C4873
type: DOID_0050177

RA-Q6f1vy2BvI0DFbRvEorJxrUydFk9GjJU-kzdpGVLf4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.810+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

COL7A1

RA SggcxXkIA8kO3oN7MlrcqCwCKRZO7u3EZNFzJQ2CU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.811+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TNFRSF11A

Osteolysis, familial expansile

RAi5vAbnjA2Ngshti6KqeK1tiTmhB6IQzM3R4bCNQQyAc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.812+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Stapes ankylosis with broad thumb and toes
type: C4873
type: DOID_0050177

RAGGcL1NsOIACeR3TdhkseOSYy3d5JE9IU7tjmpMO5RQQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.813+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NOG

RAr0KiJF49ZV6U1f6f-yXnBYws w77MVpKNGOiXGjqqkk
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.813+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Thanatophoric dysplasia, type II
type: C4873
type: DOID_0050177

RA7IgRGI45yWuZ AO6nnvxA8J03pDxFiCWpnMkTJX-E7A
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.814+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAkob3zxN7Ru3kl08k6qcxoEkxHYAAtFMg9mdfffsxWv4
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.815+02:00
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 7
type: C4873
type: DOID_0050177

RAGeKDGjZzjZEyJ-V-YH2gLYaeEJutxKS9S3zYH-dJ7AQ
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.815+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NECTIN1

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

Metaphyseal dysplasia without hypotrichosis
type: C4873
type: DOID_0050177

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RMRP

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

3-methylglutaconic aciduria, type III
type: C4873
type: DOID_0050177

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OPA3

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

Glycogen storage disease X
type: C4873
type: DOID_0050177

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PGAM2

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

Pseudohermaphroditism, male, with gynecomastia
type: C4873
type: DOID_0050177

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created by: 0000-0002-7770-620X

HSD17B3

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created: 2019-04-01T11:08:52.821+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Proud syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.822+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: 0000-0002-7770-620X

Phosphoglycerate kinase 1 deficiency
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.823+02:00
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created by: 0000-0002-7770-620X

PGK1

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

Scapuloperoneal myopathy, X-linked dominant
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.824+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FHL1

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created: 2019-04-01T11:08:52.825+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

STAR syndrome
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.828+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mental retardation, X-linked 9/44
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.828+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FTSJ1

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created: 2019-04-01T11:08:52.829+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Warburg micro syndrome 1
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.831+02:00
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 5
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.832+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SPTBN2

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created: 2019-04-01T11:08:52.833+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cone-rod dystrophy 5
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.833+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PITPNM3

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created: 2019-04-01T11:08:52.835+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MPI

Congenital disorder of glycosylation, type Ib

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created: 2019-04-01T11:08:52.835+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Dystonia 6, torsion
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.836+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

THAP1

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created: 2019-04-01T11:08:52.837+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Vohwinkel syndrome with ichthyosis
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.838+02:00
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 11, autosomal recessive
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.839+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAiUeNWFl5t4VrqQ0bDHHDZ3wwYUePrQ3Zqynn7L-aP1U
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created: 2019-04-01T11:08:52.840+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Split-hand/foot malformation 4

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created: 2019-04-01T11:08:52.841+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Alveolar soft-part sarcoma
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.843+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Carney complex variant
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.843+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MYH8

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created: 2019-04-01T11:08:52.844+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cardiomyopathy, familial restrictive, 3
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.845+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TNNT2

RAM1sbgjb0hZpq2egyqW4l7wDO1wDr OMKykqFKAtLPBM
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created: 2019-04-01T11:08:52.846+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Leukocyte adhesion deficiency, type III
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.846+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FERMT3

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created: 2019-04-01T11:08:52.848+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SCN1B

Atrial fibrillation, familial, 13

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created: 2019-04-01T11:08:52.849+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Atrial fibrillation, familial, 14
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.850+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SCN2B

RA5O8q0JMeGawjNamwGGg3MsAkqbQ1rm4YmfCRfAHGUPw
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created: 2019-04-01T11:08:52.850+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.852+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Dysalbuminemic hyperthyroxinemia
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.852+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ALB

RApCm6gciICZTHwkkr97kmgBy32pfoKhacwA6bdbxP3Pc
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created: 2019-04-01T11:08:52.853+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.854+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAPSN

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created: 2019-04-01T11:08:52.855+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Avascular necrosis of the femoral head
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.856+02:00
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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created: 2019-04-01T11:08:52.856+02:00
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created by: 0000-0002-7770-620X

RAFZjVrZDLAhRoWWJbNkN0rtNZMA6W8tw7uiZUzsj9n20
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created: 2019-04-01T11:08:52.857+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
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created by: 0000-0002-7770-620X

EGR2

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created: 2019-04-01T11:08:52.858+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Glycine encephalopathy with normal serum glycine
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.859+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pseudo-TORCH syndrome 2
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.860+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

USP18

RAGDW6bA5E-C1PoGmG6ZrhEa-N4NAXee3TabGd-Y6JQ-c
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has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.861+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Immunodeficiency 37
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.861+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BCL10

RAOX6vWzMyT3YHeedK0pOHBQAFcbN7gcQfSYpMdNxhZnA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.863+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

STX1B

Generalized epilepsy with febrile seizures plus, type 9

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.863+02:00
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 21
type: C4873
type: DOID_0050177

RA38I291qFmw02h6Uq37rqe2Yi pMPOoYsIBxidl6CQGU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.865+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
type: C4873
type: DOID_0050177

RAN91eBsqxMeS4ml-JJXrpj8zTnzjsiqKBglfP6J3hYeQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.865+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TSR2

RA1 0JNyzFTJREnF qmm0CmQpC3ePTuTi mxj50qV6zyE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.867+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GRHL3

Van der Woude syndrome 2

RAgR4KSPQIxfA24WVnZ7tWTFo1LBsX5RgkvkscRPOPp8U
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.868+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Short-rib thoracic dysplasia 10 with or without polydactyly
type: C4873
type: DOID_0050177

RAOiihAnVZjZKgZ3rhEONQEvl-d6yz7DnkDpI6Dqdvf A
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.869+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Epilepsy, myoclonic, familial adult, 2
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.870+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ADRA2B

RAjFAKZ7TEeOPE2MpJ- DCYkHN4ZRnUMS8cYIl7o5v7ns
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.870+02:00
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 67
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.871+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NEK2

RANQefycJMKIrvpmjpBwzIt3z3D4PGPVDA6z0kHOj tmo
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.872+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Loeys-Dietz syndrome 5
type: C4873
type: DOID_0050177

RAoYuQ-tb7Kt 3WoMZlgUz ZCQ6 ZmPqNPLRfidSPC0h8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.873+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Combined D-2- and L-2-hydroxyglutaric aciduria
type: C4873
type: DOID_0050177

RAoN0iDcQ-RlkkiKuxtgk1CnwWTaQNOffneLhPytUned8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.874+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC25A1

RApmDxwgBedtEpRBTLhLPghvQXFIpcNcxvxFVE7 vQ5HA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.875+02:00
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
type: C4873
type: DOID_0050177

RAwSUve1akC27tGckEgghhWnfOAVblTHhVTZ0hjUZOgeQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.875+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA5JUEEpZ6YnI7RO0XU8-1-4if9GG4EATR61ThcBO2I74
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.876+02:00
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 3
type: C4873
type: DOID_0050177

RAjf3nYgR5FRhy9suoqSjaPdS5sA5kutM pjU4bYMiox4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.877+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

EDN1

RAvlZL6xwGtTjDKXWbmeHwPfm6XqWbZbF4hJzSChzAf6w
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.877+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Microcephaly 4, primary, autosomal recessive
type: C4873
type: DOID_0050177

RA3EqNxbggbDlvDaN5SbfCiC9xGwRejlO0-6nt3D2-vWk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.878+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KNL1

RAF5eXaq-EJVg3QgXTG1IHTL1TmadFcAx6snba1qFKWFc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.879+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hereditary motor and sensory neuropathy, Okinawa type
type: C4873
type: DOID_0050177

RAmGgnwk6DyfmWZHkxZm97oV02n32GdqthyeU1A9qjRSk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.879+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TFG

RA8eRFphGD9MLulGwH0rYqTohJdOkEOrIJp3T2Mnu 95k
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.880+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

IMAGE syndrome
type: C4873
type: DOID_0050177

RAqDcm1D6XLFJ-H6OnbgWEs l22XhtzyGYr5fSZgaOQsY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.881+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CDKN1C

RAvaGgGycjmLlTwCskNjFM QmdR4poz5lfvc FcXfvNaw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.882+02:00
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, congenital, megaconial type
type: C4873
type: DOID_0050177

RAFqoJ8BR-66OAqM5NjmhTvyHEHXAdCyrx-EgYQiBlfw8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.882+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CHKB

RAA0ka-NCaOZKRaIvXFxLjvif BlJAo0lpsQc-q2yB3r0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.883+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ataxia, posterior column, with retinitis pigmentosa
type: C4873
type: DOID_0050177

RA-RiNaQBcwHX4BYMZcul47ZfWhlnEkCSUou32yBf0ZAM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.884+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FLVCR1

RAhFc7nwrJE0vhgyWM7 mSBYYD6VGL49-ijdCYRk8Zmhs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.884+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Chudley-McCullough syndrome
type: C4873
type: DOID_0050177

RAp4wUekXjCWvCaXb ZQaQnI4wfpZLlUlFMmyTIc 86Fc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.885+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GPSM2

RAGEPN5PwhfFmSxTq8kejAx079lZiY-xFzy0 Gi2wzSlY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.886+02:00
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 2
type: C4873
type: DOID_0050177

RAljmMNxHHg4m2pGVLw0xriKXuhhDwjMT45EfrEhsJZKE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.886+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TMEM216

RA4B4hrP3 Rd5PYUSpMXn0zSGYM17bgG2qhcTV1Mqczps
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.888+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GJB2

Keratoderma, palmoplantar, with deafness

RAhWpuitphE3djq-yTwD3Q7QXeKlTCrUDHtg-VHA5jfoE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.888+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypomagnesemia 2, renal
type: C4873
type: DOID_0050177

RAuFuwyZ7kWiuEsxykVt88X4lKwvGqVP42xDB2CKvGYi8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.889+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FXYD2

RAjwPgl4csgptRxlG-8bnDpZczrxeFEpTKBm6u3lqmm7Y
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.890+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Medullary thyroid carcinoma, familial
type: C4873
type: DOID_0050177
label: Medullary thyroid carcinoma

RA HIXZaB kbd9iP9mW-zgp3tgUYX5qmVvW2esg uv9jc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.890+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NTRK1

RA8Nv9CbZyboPtvP3uXT3AOJsz228XUrparQG7Y7WE1y0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.891+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
type: C4873
type: DOID_0050177

RACJStgsePeKucZW jYXF3TkYMWCoUY0f9SeX3-YrvE0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.892+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Chondrodysplasia, Blomstrand type
type: C4873
type: DOID_0050177

RAIolS0cxfJkB4t4QMIx3C3Q-zv3g13K-W4O7WH66QZHw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.893+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PTH1R

RAPwGxwjwCU3Vl3PJDCjRu9QXCsPHN9pv0Gzcs-pGg50c
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.894+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ITGA6

Epidermolysis bullosa, junctional, with pyloric stenosis
type: C4873
type: DOID_0050177
label: Epidermolysis bullosa, junctional, with pyloric atresia

RANSOZoS LT31YVQOgC4W1MpQcNqMZqRpOY03XNhaqnGo
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.895+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA WnAAatJ9GIKfGQwdq4f94PekJ3yBGlHmfEyA3mQqZ4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.895+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ITGB4

RA7FzP6 nwl-qGigHUJVKwiJZF9rrq5o9IgfnSm ZmtvE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.896+02:00
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 recessive
type: C4873
type: DOID_0050177

RA-yLceetXf6SYH8gccdI4vX3iMGUgNDEWeA-zG3t7uO4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.897+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Neutropenia, severe congenital, X-linked
type: C4873
type: DOID_0050177

RAMdBNW2G6qilLT3gGlOd0gbLY4uo2WlI4vFcwciQ8RJA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.898+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

WAS

RACpOOEPcsTH7xUBQ31QjhSTNmDyV7kljMqaStH2XYKLo
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.899+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cone-rod dystrophy, X-linked, 3
type: C4873
type: DOID_0050177

RA7xqRsu619j1lwVQBzsa98PU 7jiJelr3x3sp34i9XBs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.900+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CACNA1F

RAmYhwUUMPaoqwfWOxXuUMPj9TYYH0TMXsSDhXUaS3NdQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.900+02:00
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 93
type: C4873
type: DOID_0050177

RApxqT-ZYW tfWQBsFm4kIE0ec4vPJvHtIGYFHAUNoBhc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.901+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BRWD3

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

Reducing body myopathy, X-linked 1b, with late childhood or adult onset

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created by: 0000-0002-7770-620X

Deafness, autosomal recessive 3
type: C4873
type: DOID_0050177

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MYO15A

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created by: 0000-0002-7770-620X

Pleuropulmonary blastoma
type: C4873
type: DOID_0050177

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created by: 0000-0002-7770-620X

DICER1

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

Dental anomalies and short stature
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.906+02:00
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created by: 0000-0002-7770-620X

LTBP3

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created: 2019-04-01T11:08:52.908+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ovarioleukodystrophy
type: C4873
type: DOID_0050177
label: Leukoencephalopathy with vanishing white matter
label: Leukoencephaly with vanishing white matter

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created: 2019-04-01T11:08:52.909+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

EIF2B2

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created: 2019-04-01T11:08:52.909+02:00
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: 2019-04-01T11:08:52.910+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

EIF2B5

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created: 2019-04-01T11:08:52.911+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Tropical calcific pancreatitis
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.911+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SPINK1

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created: 2019-04-01T11:08:52.913+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Diabetes mellitus, insulin-resistant, with acanthosis nigricans
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.914+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

INSR

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

Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.917+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Holoprosencephaly 7
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.918+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Brugada syndrome 3
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.919+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CACNA1C

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created: 2019-04-01T11:08:52.920+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Arthrogryposis, lethal, with anterior horn cell disease
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.920+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GLE1

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created: 2019-04-01T11:08:52.921+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Immunodeficiency 9
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.921+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: 2019-04-01T11:08:52.922+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Immunodeficiency 10
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.923+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

STIM1

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created: 2019-04-01T11:08:52.923+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Anhaptoglobinemia
type: C4873
type: DOID_0050177
label: Hypohaptoglobinemia

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created: 2019-04-01T11:08:52.924+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HP

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has provenance: provenance
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created: 2019-04-01T11:08:52.925+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAFTr8IO38f1J1El2FMiHOicx8eBEX7yMSlDEfkmWkP0A
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has provenance: provenance
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created: 2019-04-01T11:08:52.926+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Kappa light chain deficiency
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.926+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

IGKC

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created: 2019-04-01T11:08:52.927+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2,
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.928+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

COX15

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created: 2019-04-01T11:08:52.929+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Aniridia 2
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.929+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ELP4

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has provenance: provenance
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created: 2019-04-01T11:08:52.931+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypoparathyroidism-retardation-dysmorphism 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: 2019-04-01T11:08:52.932+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TBCE

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created: 2019-04-01T11:08:52.932+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Thyroid hormone resistance
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.934+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ichthyosis, congenital, autosomal recessive 12
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.934+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CASP14

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created: 2019-04-01T11:08:52.935+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Vascular malformation, primary intraosseous
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.935+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ELMO2

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.936+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Meier-Gorlin syndrome 6
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.937+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GMNN

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has provenance: provenance
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created: 2019-04-01T11:08:52.937+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Myasthenic syndrome, congenital, 19
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.938+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

COL13A1

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has provenance: provenance
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created: 2019-04-01T11:08:52.939+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NFKB1

Immunodeficiency, common variable, 12

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created: 2019-04-01T11:08:52.941+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

XYLT2

Spondyloocular syndrome

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.941+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Immunodeficiency 15
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.942+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

IKBKB

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created: 2019-04-01T11:08:52.943+02:00
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, progeroid type, 2
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:52.943+02:00
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: 2019-04-01T11:08:52.944+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Linear skin defects with multiple congenital anomalies 2
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:52.945+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

COX7B

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created: 2019-04-01T11:08:52.947+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Al-Gazali-Bakalinova 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: 2019-04-01T11:08:52.947+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KIF7

RA0FB lp4KXuR2iCKXJiotMHfW3PAWMVCAzwWWsjYuhpA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.948+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Convulsions, familial infantile, with paroxysmal choreoathetosis
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.948+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PRRT2

RAH2nnMfg6Xg1RqsuLp9X6vCsb2DrwmNi-0SiS2c8GYKg
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.949+02:00
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 recessive 15
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.950+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GIPC3

RACYXT2BAsAPbksicmmmvu3u AH0ur-XejANxAga PAsc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.950+02:00
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 7
type: C4873
type: DOID_0050177

RAAJh3YkgwJ2ay4hUbff-5DiI Q5nZ5BXGBsyw3dZi4rU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.951+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DYRK1A

RAJKamigSDIEOaikJ1-xcSBRVWrBRyroBKNfgrGCGtQhs
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created: 2019-04-01T11:08:52.952+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CSF2RB

Surfactant metabolism dysfunction, pulmonary, 5

RA93guIxzciWYTmTh Y0lVmS2FICaocOb6KNEAB5NF 1A
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.953+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KRT14

Dermatopathia pigmentosa reticularis,

RA6-YmfczqXUl3kKtOoYDDjyUjWjwAIlus2zp4xNivBbQ
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.954+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hereditary persistence of fetal hemoglobin
type: C4873
type: DOID_0050177

RA6y5NSi3CreCTHx1VjhJr-rnLm34NqE6eONsXkoG-XjQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.955+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HBB

RA6vS5wrVN-SNSziSN7yDvFYqSVAFINDCsswRsqbw8c98
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.956+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LRP2

Donnai-Barrow syndrome

RAOd3bCpG7tPlSEgJo42wHMfVV0v5dcUW42oUbYh4CjaI
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:52.957+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Homocystinuria-megaloblastic anemia, cbl E type
type: C4873
type: DOID_0050177

RAqAzfe2 dsBplg55oAlGuXb2Kid55K48ZnpRttOoESHs
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.957+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MTRR

RAhJ8UJgpKljujHVcBFLO-TpLeJQV9MpM4y9 N-rBV3K4
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.958+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAPADILINO syndrome
type: C4873
type: DOID_0050177

RAqFxtLOhx6n0fi8QXVcNlwCFEV1U4WGvqR2zRl9ZReQw
has assertion: assertion
has provenance: provenance
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created: 2019-04-01T11:08:52.959+02:00
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 3B
type: C4873
type: DOID_0050177

RAC4poowUmxufJs8 ucQPyXE7Z1OFXVwWU921PP-Ccv5M
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.959+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PEX12

RAjQ2W8IEeiTrWaD6xU4fqKj46VTBxFNvvT0WwKnfpOUA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.960+02:00
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 dysgenesis
type: C4873
type: DOID_0050177

RAEMa1ZdN4rd2NyUHF-2ho8JdAMKTfdrciIJ7Ge1dDl8o
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.961+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ACE

RA4IdKQQt0GIt4lsgOLJRli8tp9911d2aj8ei6ILSvxWY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.963+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Xeroderma pigmentosum, group C
type: C4873
type: DOID_0050177

RAsxppEnONuUXSitjrV8jnDGVS3BBzMS7OtshpQ0dm7rk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.963+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

XPC

RAjnzYThYRDvb5R-C-MiM7LaV0ChDc1Iu3Q97ZR3CuU2s
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.964+02:00
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 syndromic, Turner type
type: C4873
type: DOID_0050177

RAoKTbxz5o2F4KiP8ITSsG226rE65xkZcZ1lBxQuxBMvM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.964+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HUWE1

RAsY8mG7QdVeQFibazvoCn9sxz1IgHy4LlzkGKro6bFbc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.966+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Anemia, sideroblastic, with ataxia
type: C4873
type: DOID_0050177

RAzl43sHKbKxPRrUgyWtHY VNoZn9gh1UvASsoaVB9ylg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.968+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Arts syndrome
type: C4873
type: DOID_0050177

RA1G2JGbr9xqjjQeSyjPRITgXw5yVv0DpcqIod pn3g04
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.968+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PRPS1

RAwqoizcEJm6ObSAp6uKIiPXUxZ-bM-tzpcK2KOGrckBA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.969+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Agammaglobulinemia and isolated hormone deficiency
type: C4873
type: DOID_0050177

RAiuG8MIfPZrG20CUxhkCUHrM59Ipns3NvRsbOWud9-kE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:52.970+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Partington syndrome
type: C4873
type: DOID_0050177

RAg50oxxP3Y-HV4cSTNvKPGiIzk5T7165DzPI3d6IrLuk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.971+02:00
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 11
type: C4873
type: DOID_0050177

RAAViKz1jfSiSHyEv88cqR7uHd6EDVNBTiuGT19iy7bJo
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.973+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Naxos disease
type: C4873
type: DOID_0050177

RADKsr-wJ3QbSXUOSxkstMzuS0-TH1hr6CdUbTOnR1w M
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.973+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

JUP

RAjbYrKGpu6071UElBc5qjEgltG4UJPG0pV4SsRA4JufQ
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.974+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Platelet disorder, familial, with associated myeloid malignancy
type: C4873
type: DOID_0050177

RA7ev6zk6xEpS4WYcZIbrSvvTMegO9nBxXUGZV B-bnV0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.975+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RUNX1

RA5 o-KhcXp7zKz4whu3RMGqIKthHsmChIhOHcW9wOdFQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.975+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAz8uHxRpTQ1x4ySlqdrtjxB-qUzUGyAGsQqELrhj94KA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.976+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

EIF2B1

RAi6jTYZOya6fgMNMRs HlfKxQrYt1nX3fx6nL2-lXyBU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.977+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Macrocephaly/autism syndrome
type: C4873
type: DOID_0050177

RA3N8gWkMxn1b CyFgjvv3ZyJfmwQdnBO8ZLaFmGG6Nzk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.978+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PTEN

RAoCfSsFVOhrpv36FK1ASmaiWMB44orVkIQ6Y41DrCKGw
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.979+02:00
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
type: C4873
type: DOID_0050177

RAh8i0mjBe9OVvWqG0b4Dme9NbZMfwQ1UUycgUTcuEU 8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.979+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MATR3

RAwlDVLcbfgp54UjLRRjPguXqMJrp3MI lIQ6AcR43o1M
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.981+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ADGRG1

Polymicrogyria, bilateral frontoparietal

RApNVpfaIL7gY k ItSt4mOIW5CrrBscYVKoQO95GMhYA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.981+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Newfoundland rod-cone dystrophy
type: C4873
type: DOID_0050177

RAq-l4bgg-MqLFWMF523dH2a6q9TZyVX5sh8U2dAZzEdI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.982+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RLBP1

RAx4OGpdaJWme5dw3W9IBIFV8QVzXTmJ2n-mDn6o0sasE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.983+02:00
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 XII
type: C4873
type: DOID_0050177

RANgiRJuct8EQwDzoQDo74WODcb8HEdBCZALxlmlBt4Is
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.983+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ALDOA

RAAxCf dYnE4IvRL5sz4hVs54nINH8sJUQxPtJsHmqMoY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.984+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Trichotillomania
type: C4873
type: DOID_0050177

RAoIrfP4dFsnSavjWaLWzSXYj0SpYXxBcDmQplC2x-XPQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.985+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLITRK1

RApzSHibNYQwnfSGmffbHiDcNP1-KU-Ypot IpzbGoROU
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.985+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
type: C4873
type: DOID_0050177

RA pHcvSZHz3i4ksFd9qzFMdoVpi06dcWXQEbAnH d5L8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.986+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AHCY

RA TUGBpXFSqN-sOfrvdXOxYo0LH8B6eYjFZ0OXGod-nY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.987+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cataract 15, multiple types
type: C4873
type: DOID_0050177

RAyAoW8ife8XIrbZa iGGVmDRkMVNk3SUwkhrAsDiLPCc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.987+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MIP

RAOdoyzC0SpSrxe4pFKWw5Q1EHnnR4237Pf7oR5OfqSBM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.988+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Myopathy due to myoadenylate deaminase deficiency
type: C4873
type: DOID_0050177

RA9yQXx6zhKTOUoafhX80Lz0jzAJJUTJpQjF88pVVOCN4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.990+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AFP

Alpha-fetoprotein deficiency

RANba54geS9S9oDQXYG1nk2LjZ5e7ut8lesvs4zJ70Ds4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.990+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Capillary malformation-arteriovenous malformation
type: C4873
type: DOID_0050177

RAtY5MDKRg9QQ1w7KzhTDwgVunHlX7hkBsdaTwhtHsR k
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.991+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RASA1

RAAIeAc5t0H0BGaG5i2hWmJ5bXJaP9I3DlZ iiR4R F80
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.992+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HLCS

Holocarboxylase synthetase deficiency

RAyZJGfBcJtL ZeRewuXvCTsIKoeMqOEjracJ523NhjUA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.996+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TRAIP

Seckel syndrome 9

RAm0-Xe7ZIgWKMIO8ZyNGYjU7mQ7jppaJyXQs0iSBK2oY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.996+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Immunodeficiency 42
type: C4873
type: DOID_0050177

RAEY5Cy0VampuekxxcQOYgqYmfxubBjCdsSwvQELkjVGM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.997+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RORC

RAvNxf7H6y78N3NLrCTCkDgjHYxIrhMpaSZ1SFM5bkiu0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.998+02:00
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, distal, autosomal recessive, 2
type: C4873
type: DOID_0050177

RA6 Ey qGJk9 EcaYF fA6LKnJLQVyALy4bXA3sYaKniE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.998+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SIGMAR1

RAxgz504SocrdvvPPJKHEvfu1sDgN6J87IyYfgAEOC5as
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:52.999+02:00
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, syndromic 11, Shashi type
type: C4873
type: DOID_0050177

RA40OWikGl7rRRVusdWfkrTxpLA5Md4dNZUUdgCnej92Q
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.000+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
type: C4873
type: DOID_0050177

RA62Hq3PspZSkA -wBdlzSYHWYvu7A1mEC0-naJb591nI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.001+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypotrichosis 11
type: C4873
type: DOID_0050177

RAMkdXbZqS2X7Iq-v2wBMV4VoFoTZIoPcpOhqls5vIRSI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.002+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SNRPE

RA5sNKM02oEjT0LNZuTe4UYMzFJVJDX4h5796nQBhTr1M
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.003+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HYDIN

Ciliary dyskinesia, primary, 5

RA-7ami8wlz8EVSTUaDKFAm0C0UnZeiM70UEJv-aEEhWc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.004+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Multiple congenital anomalies-hypotonia-seizures syndrome 2
type: C4873
type: DOID_0050177

RAKN1BeqZ0W6eTQ-mYb5pk4SlzH0apP9bb5A7PLGZgafg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.005+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PIGA

RAN2BOx86cTNxcc0zEDg3ocMnuZsnqgoeRJcBH7RuPmbU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.005+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Seizures, benign familial infantile, 2
type: C4873
type: DOID_0050177

RA6FYDKuyDot oQ2zTOEiRLTegGQGou5IUvP 0nB32PJM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.007+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Deafness, X-linked 4
type: C4873
type: DOID_0050177

RACQvDH5zj1DjjtybilglWH7w0v5Ub G5qJJ0MyF01VTg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.008+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

WDR11

Hypogonadotropic hypogonadism 14 with or without anosmia

RAkO 99qMVHfUqNmPsXnkDqR2RIOvXvJKoo gYKocaAjw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.012+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Renal cysts and diabetes syndrome
type: C4873
type: DOID_0050177

RAH0LpiNQ-mzQMDpti-kB5TMmf8RwImVx9oV2rxeqLPAk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.012+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HNF1B

RAPWJQzusDIYKgYBK8k5WNNWsdpvBMnUOUy8Nft-wdxIg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.015+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PAX6

Keratitis

RAwmK3Sy4K1BA4kidJ7Cu4vVXGbljbfXE3FlNLJHytEhw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.015+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Fechtner syndrome
type: C4873
type: DOID_0050177

RAzs XJzD9l-xnUey3c9Bkw69sLHLIJZ7vieCaOIcGpzU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.016+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MYH9

RA8ELZOlLiKvFbdndBef5-7qjX5Wfz5njj1tbwDy0FLLk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.017+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TBX1

Velocardiofacial syndrome

RAg9dYWgLyYJaOkp-eWpCKPCJpnuD8SAoHQL9jRF48Eds
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.018+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

VLCAD deficiency
type: C4873
type: DOID_0050177

RAASAAG2QM-Py2-okGAH5bqskr17KXLM xabN J-IAi8M
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.019+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ACADVL

RA7vr8jQ0xMx6op3P44MgqY15FxPzZXFX hsLCnXs2QiI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.019+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Greenberg skeletal dysplasia
type: C4873
type: DOID_0050177

RAsXKYdc3K8DFLu-xp3qWxsek3fNbPbVBjrVt3V7iipB8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.020+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LBR

RAuFqX1enUeeQLhwzaCdcYUm0Oq9jeOXlpCQ5c4ZN8b00
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.021+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Double-outlet right ventricle
type: C4873
type: DOID_0050177
label: Conotruncal heart malformations
label: Conotruncal heart malformations, variable

RA8wsdIR8sXeCZD Mim8nH3qEi TC0Ybsom-AuqdC68nE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.022+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAh1TbjifeFGeAnEGKro6aH2RDMZjSHMbqAIyj0WnIlGE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.022+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NKX2-6

RALrQ5uer-40i1wGpmYqQ6EeYJtfKxxmCeDZpqCywafQM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.023+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA--OaGxNcFfE5TAq2APav a-6tWyUc3MCdPSxHA4UVPk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.025+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pontocerebellar hypoplasia type 4
type: C4873
type: DOID_0050177

RAjQB5nfNXy-CzGCl-CJvXH8CpOYPO6sYugwMvIwHahPA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.025+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TSEN54

RAkPIxT1S2FH hPvEhhXElRk2n4T9jNUUfSA1S5vaRbS4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.026+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Bile acid synthesis defect, congenital, 2
type: C4873
type: DOID_0050177

RAoVfibrtP9nOuS7cO0FHnL6SilkL JDXTmaghR-ecy8A
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.028+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DLAT

Pyruvate dehydrogenase E2 deficiency

RA97jyYTuYMkLDn0ObeWVX7coHaqdTTWqm1RWAuNbLxEo
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.029+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hyper-IgD syndrome2
type: C4873
type: DOID_0050177

RAIpoQHXPzAUR8UWk VYJa24Rq 3ztCCKyk86DQT ldJY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.029+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MVK

RADnnTRHFn34z9sfghTr9WrEN bkLOsfYPzg7J WEcc60
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.030+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAtcpYQGqxB oiCwOl90NHvK6r167NCUgbwrsY72rVosk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.032+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

QDPR

Hyperphenylalaninemia, BH4-deficient, C

RAF5xJUDvqbcIREsmOe8s8 Wvlmz r0qItWNcxt8HLB5Q
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.033+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SHOX

Short stature, idiopathic familial
type: C4873
type: DOID_0050177

RAj0MSHHX3srUiRq-bAc0KZ2liBsz47uADDj4l4Lz1wTw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.034+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RALsiiipYIQAuwDbPlpK5oyoPdLVc8aEdrPj qC9du s0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.034+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAxyGysOGanycEd0TsUssFHQ5IyulW1adt7y1z8KP-nY4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.035+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Anemia, X-linked, with/without neutropenia and/or platelet abnormalities
type: C4873
type: DOID_0050177

RA2pi40 SGbtryM5jZEW8FnJ22sl9ioQKRN0J k0iUt24
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.036+02:00
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 19
type: C4873
type: DOID_0050177

RA-06IUEUHb5KeKMSw y7 Z1fSjWNwQK5B-Q7mvYP7R2w
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.038+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Linear skin defects with multiple congenital anomalies 1
type: C4873
type: DOID_0050177

RAszRR-OYG31xQIUEawdi06 l792KeP6EQ9C1e9WasPT0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.039+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Properdin deficiency, X-linked
type: C4873
type: DOID_0050177

RAHxtUp-6l2eJGy9wnNhD18EvFBCJVt082GzSgx6gSL-s
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.039+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CFP

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created: 2019-04-01T11:08:53.041+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC26A4

Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

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created: 2019-04-01T11:08:53.041+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ectodermal dysplasia 4, hair/nail type
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.044+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.044+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

APP

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created: 2019-04-01T11:08:53.045+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spondyloepiphyseal dysplasia, Kimberley type
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.046+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ACAN

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created: 2019-04-01T11:08:53.046+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Growth retardation with deafness and mental retardation due to IGF1 deficiency
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.047+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

IGF1

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created: 2019-04-01T11:08:53.048+02:00
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 H deficiency
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.048+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CFH

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created: 2019-04-01T11:08:53.049+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GPD1L

Brugada syndrome 2

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created: 2019-04-01T11:08:53.050+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Brugada syndrome 4
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:53.051+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Pontocerebellar hypoplasia type 2C
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.052+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TSEN34

RAqtufK-naYN mKkyloCGDlH22YBPra6YyrylzCmfc2Bo
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type: Nanopublication
created: 2019-04-01T11:08:53.052+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GABA-transaminase deficiency
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.053+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ABAT

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created: 2019-04-01T11:08:53.054+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hypokalemic periodic paralysis type 2
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.054+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SCN4A

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type: Nanopublication
created: 2019-04-01T11:08:53.055+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Aromatase deficiency
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.056+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Methylmalonate semialdehyde dehydrogenase deficiency
type: C4873
type: DOID_0050177

RAksOQfvDqRs6IuW6fLGj S8PlVMdLBIyo7khHDjaTAss
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.057+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ALDH6A1

RAFaIdI03JVsjdisSA3mpvf4dkxi0zD00GTfGDMb70pQ0
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.057+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Atrioventricular septal defect 4
type: C4873
type: DOID_0050177

RAJrwOJKzob1nxBRT4jtkudCWi Cbsaro6gXUkzLMqJ5c
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.059+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Thrombophilia due to protein S deficiency, autosomal recessive
type: C4873
type: DOID_0050177

RAId6H54CHbHOx5ZbQHZZbnySyAax4Rub4F31MsPlr-j4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.059+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAgQOBML kh8YUSWY xlLdULReLvmhc1UwUwJdxj3Oczc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.061+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NR3C1

Glucocorticoid resistance

RAtaRkmKcgsS1X75nFjdZtXrdn6HRMFZW5Z3oHEFfyv 8
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type: Nanopublication
created: 2019-04-01T11:08:53.061+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

C8 deficiency, type I
type: C4873
type: DOID_0050177

RADvQzVfj6k6rdLOHZP-Y9thTPNHMSQIJsosvtKKpaWfc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.062+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

C8A

RAiaar9K1SS56udNzqL4rSDyLUQSV0j0uQegH7VaqKHN8
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created: 2019-04-01T11:08:53.062+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Microcephaly 17, primary, autosomal recessive
type: C4873
type: DOID_0050177

RAuDdVOuVnX0Gh4 5vO5yhnHY1tcsKdYOrvlI9xMaGjsk
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has provenance: provenance
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created: 2019-04-01T11:08:53.063+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CIT

RA8swfZS57tVpU3890ukWsy9LCKuxVFao7KZMqn4qPm g
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.064+02:00
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 2
type: C4873
type: DOID_0050177

RAjPrTYFPP6cbdOjZCu7WnkOI1XvSusSmDslu1C-M65uY
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has provenance: provenance
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created: 2019-04-01T11:08:53.064+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MAP3K7

RA44WId2YF9-dvc1-5FTrzQVsYMc73hw5BHE8fhhUZ Do
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.065+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Even-plus syndrome
type: C4873
type: DOID_0050177

RApdmFzaTKDFOSwdyiJbuc4EhXKgliSVeIuh7mbnByYHY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.066+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HSPA9

RAIVgEGKD8wWsTGfrvlg1GaeYBAEphFKIjYTUDWJ-PMRI
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.066+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mitral valve prolapse 2
type: C4873
type: DOID_0050177

RAmAd5rfU 6K87n5RfC8i1Qf36KHHDby6CkHgiy Mcp8c
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.068+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DCHS1

RAupouph5Bl1VHhoSorp0Xx2TLLMHIj89M2ksS7JQgMyY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.069+02:00
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 2
type: C4873
type: DOID_0050177

RAD0TAhiNCvQgth788OIayumt-EaimmhAnVrAyT267qzw
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.071+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

BHLHA9

Syndactyly, mesoaxial synostotic, with phalangeal reduction

RAxSDRgF1gwlGwYco9CvV0e2UR4f9rwgz1a-MtDyW8ayc
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type: Nanopublication
created: 2019-04-01T11:08:53.072+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Dyserythropoietic anemia, congenital, type Ib
type: C4873
type: DOID_0050177

RArCdGiO-ie-CKXU1uQw75K3my40hug9eIZRmqLpUGzFo
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.072+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

C15orf41

RAsbzqUKaenlUjjkbaewTI lbGMwBR5i7pg woVQ-0JTk
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.074+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Multiple mitochondrial dysfunctions syndrome 1
type: C4873
type: DOID_0050177

RAveo1el6vLAadp5XDwcmsxe2vFsynRFxA20X5y0b2gBw
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.075+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NFU1

RA-j V-Ws9Rb7y0o8jNKHpB3YNlLGad0BzbefmGtngRaM
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.076+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CPA6

Febrile seizures, familial, 11

RAlZ5NPyH WFjDZeKYNaAHompR-FVO5fnPYis3EepDE38
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.077+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Neuropathy, hereditary sensory, type IE
type: C4873
type: DOID_0050177

RAmFI0 r0mzlENcLuUe7bvI6xqX1t8ETdbqIIN-F3lOrY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.078+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DNMT1

RAtXGTaaryMTdL4cRknZ0gbpsQnBu0AWaMsnT2-rJlZ9A
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.078+02:00
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 4B
type: C4873
type: DOID_0050177

RA2uRV7tjSAWkTfbQZm Ieh6G-PB7avd11azaHjF2jNUc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.080+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Hereditary motor and sensory neuropathy, type Iic
type: C4873
type: DOID_0050177

RAEw2h0XA81q95S8-fIfgtpFS32cabtBsmfzY0KBvhdrs
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.081+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SOX18

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

RAOufWQrMnXWz6c5UTpk4NzoZaEwx9yLtAdELf3U2PnfQ
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.082+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Macular dystrophy, patterned, 1
type: C4873
type: DOID_0050177

RAhGU2Ai4jTDWwfNuaDYQbavYQyqENrh1EFaGDk1blKyU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.083+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PRPH2

RA6n-9CB-0hAifShWg31UNLZnxXO y5AXIY0wJqyyBf7Y
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.085+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PEPD

Prolidase deficiency

RA6ajm2jmTyAZAvyDIOwi Y3ThAK9UJAK-fC75m7e2IA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.086+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Blau syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.087+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

NOD2

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.088+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FGFR1

Trigonocephaly 1

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.089+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Dihydrolipoamide dehydrogenase deficiency
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.089+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DLD

RAKklCcVv2t9GOiblo47PJ6f87K4rAi34lNuoZVc8KT2Q
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.090+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Revesz syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.092+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spondylometaepiphyseal dysplasia, short limb-hand type
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.093+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DDR2

RA3zADAqDfCE5dpdT4l-sRK4v MKR 3MVwleHgkDK1VuM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.094+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DPYD

5-fluorouracil toxicity, Dihydropyrimidine dehydrogenase deficiency

RAigLLGBHwzLvA3dbtAYkqjTeImSRREPZraEZqhbFy3FA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.095+02:00
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 2, dosage-sensitive
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.096+02:00
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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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.096+02:00
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-hypotonic facies syndrome, X-linked
type: C4873
type: DOID_0050177

RA0FLW HE8MnEN4JPaphmnYLdFSb4pSX wONlCo2N4H o
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.097+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ATRX

RAg4zCMLHiVH c5zBQp09-7J1I O8XE-vJQ32InPS9EMI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.098+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ornithine transcarbamylase deficiency
type: C4873
type: DOID_0050177

RAyO7pUqLEbpd7NtcSCrrjEr8oe2WUPpJGQQEtJkvXqQo
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.098+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

OTC

RAOJc86j1uGn-Mh7DnRXGyC XIV44rGR5vCaG-VWfiOzs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.100+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PEX1

Peroxisome biogenesis disorder 1B (NALD/IRD)

RAOrmY40ww-FGGoZTmU0PS2WD2hWcsBdmPbj4WjErPl90
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.101+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Glomerulopathy with fibronectin deposits 2
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.101+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FN1

RAzbpMXs4ixT8OTFFrNlhBnlS-GH0JeAtSgeFtyAasv-k
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.102+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Nephronophthisis 2, infantile
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.103+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAHdwvfLOyS4jJoQTXGIfFe6exgnhqB0B9zgr-bG3AXfQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.104+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

EIF2B3

RA7dCHbBHHQhT4jNIRdfUiDYGWIeH68oZsDI85zjWSR7I
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.105+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAI2k3HOWJ0btUmRTx3QCwxl-IHx2EFe7EmE Te13RJeA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.105+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

EIF2B4

RAHhDZiANtZQv5JuKHgtjHUO-yc9b5DviRnFPE8gwsAA8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.106+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Thalassemia-beta, dominant inclusion-body
type: C4873
type: DOID_0050177

RAHLLLfL-goE8AYd3o UcXtNXL5gSdB9BCsTi3cx2z5Vg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.108+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Lissencephaly 1
type: C4873
type: DOID_0050177
label: Subcortical laminar heterotopia

RAjNiBT0PvZc-qeuMlSbOPwdSyJhvAV8gu0GGa8Tbi1Nk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.108+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PAFAH1B1

RANRJC5o831YttK9HL0uat-f4IxF1CEegKuIX-JGz8uLM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.109+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAPw5oUznKwZrRAH70kiFEg68O8c 4mbR OsXSj2edEg8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.110+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RA0BhEdMpvZErnMoAIA NWF2POXwUy460dnWtNFLemrnc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.111+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Osteopetrosis, autosomal dominant 1
type: C4873
type: DOID_0050177

RALd1 qKbMQD9kMukPYTTI5jU9fi8ItW kznB4wO7GqGc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.112+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAIxLBxHqKhbVxgHGTRIFr8i5sLfTRGbQUKclQ6sKSkfU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.113+02:00
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 6
type: C4873
type: DOID_0050177

RAPuFdD03V4ySthbyy c4Aepl86ZYTgcI-ZjY7JyXCpuM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.114+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

IRF6

RA8JwOksThX7GWx6gP0Ux94p9PBQ4tjOb-PFL6z2O8ZEw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.116+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

WT1

Meacham syndrome

RAnnUc0lA4K9KthIvlCPsH-4 QDQ6aoOccdf4KgLh44CI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.116+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Nephropathy with pretibial epidermolysis bullosa and deafness
type: C4873
type: DOID_0050177

RAhPy THfZKHlhK716L6AAAFjyH0q1wWo4YIwYeqPuGPk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.117+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CD151

RA22ieThJl3uw8C0c8JMRM3xVlH6xECn3uI2AIYlDB10M
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.118+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Myopathy, myofibrillar, 3
type: C4873
type: DOID_0050177

RAL95Zb2aOfW8B759fAa6TuVNNZHkIjsiud5MkFBgXpj4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.119+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

MYOT

RAileeIzXCTdSuA8x6igkZKE0F-MwtkHMMsq7TgYIWnmg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.119+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Xeroderma pigmentosum, group B
type: C4873
type: DOID_0050177

RAzW7OI8tUJhSsSbepTqi8MiixS2YDN7an3861vuSsH7A
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.121+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Deafness, congenital with inner ear agenesis, microtia, and microdontia
type: C4873
type: DOID_0050177

RAuYyrkyw5DDoO5HkOqg1KLwxRaBVwiXOkk4L6AaOV1ZU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.122+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

FGF3

RAqNMye3A7 iPmOzNKXP1Mo7djVfYTYHKuIzUOLVINB08
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.123+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Brugada syndrome 5
type: C4873
type: DOID_0050177
label: Cardiac conduction defect, nonspecific

RA8PPbpfdsuoIc 6Jl6MQ68qdPsXSeb h7FMArQSf15Oc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.123+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAi0TYxKOzcjkukAJi2qhjGA1uwtYLk861AKAByoRwwRQ
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.124+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAn0gEYsiJqu6t1C4-vHa8gYLRIUcmDYZzDuWCub9aHxI
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.125+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAAqX1wRGAARfvFAJxtxsltF2rWSks0fdqVaeTaEioH0Q
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.126+02:00
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 Ixc
type: C4873
type: DOID_0050177

RAjCT-zVCJXI2DyVxfHHA5KSrTk7jq1Pwv7Klc6En EJ8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.126+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PHKG2

RAwH1Yxtf7Xv8OmWKH48zUOmnMXpo1neRtVYhxjfm8D2M
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.127+02:00
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, 1
type: C4873
type: DOID_0050177

RAg izw4tUVHr54Lmn6d2G0mjdXw6gGMwuPY9XpK38k-4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.129+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Brugada syndrome 6
type: C4873
type: DOID_0050177

RABXve1dHgpVWAUoVUEyM1Nfpb05vhwVAJmx0EU5z15Zc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.129+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

KCNE3

RA672et1HubfgbNjwVOLd1lb5MLhHY4Wo5QXD0WjdAhN8
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.131+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

CAVIN1

Lipodystrophy, congenital generalized, type 4

RA5PnYdrGk79VgSnLx0qpvBpJMAHraGYAVtMXDsm3OwQs
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.131+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Ichthyosis prematurity syndrome
type: C4873
type: DOID_0050177

RAgzVqIVK5JKuQp HaLuCLZidSwimyRg9H2nS6eiBQgZk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.132+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC27A4

RABvHZ0UnxTMd3iHS3ZyWGB-Ij8-nC6GcdJT49Q3RpTuI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.133+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Laryngoonychocutaneous syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.134+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.135+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

TWNK

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.137+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PTS

Hyperphenylalaninemia, BH4-deficient, A

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.138+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Camptosynpolydactyly, complex
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.140+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAm4Wkbo7cvfWE9T-VrmMEvIguDKaTngoilw8DALee8Nc
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.141+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cutis laxa, autosomal dominant 3
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.142+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ALDH18A1

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.144+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC17A9

Porokeratosis 8, disseminated superficial actinic type

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.145+02:00
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 8
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.146+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

DNA2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.147+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Myopia 6
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.149+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

SCO2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.150+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

Temtamy syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.151+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

C12orf57

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.155+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

Interstitial nephritis, karyomegalic
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.157+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

Retinitis pigmentosa 23
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.158+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

OFD1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.160+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

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.161+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

ISPD

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.162+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

Psoriasis 2
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.166+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

PIK3R1

Agammaglobulinemia 7, autosomal recessive

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.167+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

Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.168+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

RAFOHpq8CUZpkQ4xpa8N93Ld7jfMVHg3MUK-5aZP-65Fg
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.170+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

Mandibulofacial dysostosis, Guion-Almeida type
type: C4873
type: DOID_0050177

RAIRqxohPoPZZBjoumOeUOi0siuCxoEx0n3VMqk9Z7GtQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.171+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

EFTUD2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.172+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

Pancreatic agenesis and congenital heart defects
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.178+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

Sclerosteosis 2
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.178+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

LRP4

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.179+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

Meier-Gorlin syndrome 3
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.179+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

ORC6

RAs2O5X1fatCuJAlNAQXSaz-H7x04BfDloHUXzQ3BB8R8
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.181+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

CRYAB

Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.182+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

Rhabdoid tumor predisposition syndrome 2
type: C4873
type: DOID_0050177

RAP0Gqd9g0Yzlk1CMEHFzg2Xx-WbgrOEr4Mc9-MuRrnrs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.182+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

SMARCA4

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.183+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

Brugada syndrome 7
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.183+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

SCN3B

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.184+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

Adenosine deaminase deficiency, partial
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.185+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

ADA

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.186+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Combined hyperlipidemia, familial
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.186+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LPL

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.187+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

Currarino syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.190+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

Ataxia-telangiectasia
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.190+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

ATM

RAwMDIb0WUQgndtSAvan80LDC2bdw58hYkpaInRy6A8N8
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.191+02:00
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, cardiac valvular form
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.192+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

COL1A2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.193+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

GM1-gangliosidosis, type III
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.195+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

RAHsN5F3tcCQG1XT632iI7lgrF3Q7fB2UGvxgae8BglAg
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.195+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

GLB1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.196+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

Glycogen storage disease Ic
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.197+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

SLC37A4

RAu 195bhBiUnG-zOHgnTJb5MjLcRSoSt6G8pKKs0hX1g
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.197+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

Nijmegen breakage syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.199+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

NBN

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created: 2019-04-01T11:08:53.200+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

CPT deficiency, hepatic, type IA
type: C4873
type: DOID_0050177

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created by: 0000-0002-7770-620X

CPT1A

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created: 2019-04-01T11:08:53.202+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

Pyropoikilocytosis
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.203+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

Succinic semialdehyde dehydrogenase deficiency
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.204+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

ALDH5A1

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created: 2019-04-01T11:08:53.205+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

USP9Y

Spermatogenic failure, Y-linked, 2

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created: 2019-04-01T11:08:53.206+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

CRB1

Retinitis pigmentosa-12, autosomal recessive

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has provenance: provenance
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created: 2019-04-01T11:08:53.207+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

Glomerulosclerosis, focal segmental, 1
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.208+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

Coenzyme Q10 deficiency, primary, 1
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.209+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

COQ2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.210+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

Corticosteroid-binding globulin deficiency
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.211+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

Thrombophilia due to protein C deficiency, autosomal recessive
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.212+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

PROC

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.214+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

Ciliary dyskinesia, primary, 12
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.215+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

RSPH9

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created: 2019-04-01T11:08:53.216+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

Myopathy, myofibrillar, 6
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.216+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

BAG3

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created: 2019-04-01T11:08:53.217+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

Brugada syndrome 8
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
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created: 2019-04-01T11:08:53.218+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

HCN4

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.219+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

Immunodeficiency due to purine nucleoside phosphorylase deficiency
type: C4873
type: DOID_0050177

RAg084hQyBsPCqKqEMFYClQOyOglYcb5WOyTrkfGsCJOs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.220+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

PNP

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.220+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

C9 deficiency
type: C4873
type: DOID_0050177

RAujknn7OyI1-2n6G2XFRwYOSyjoNCrvsgCmZzKHVkhAg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.221+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

C9

RA2RFR cvUqQigcDSqMrfuCelsFoFDtktAsQtVXULo-Ys
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type: Nanopublication
created: 2019-04-01T11:08:53.223+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

VATER association with macrocephaly and ventriculomegaly
type: C4873
type: DOID_0050177

RAxA1TzZPxpj7X8i23Qt09KZYG1jgMt8w76nSm4FfE4KI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.224+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

RAzHK4-JmMojRSco7pV4aGCEEmS5PJeEGdFtNacbDafnY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.226+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

Albinism, oculocutaneous, type III
type: C4873
type: DOID_0050177

RAidRJ34ItME5KNONCTtPgVia7SAyVjT0cA9BZrIW1Bm8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.227+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

TYRP1

RAFio dnAR6CbH8zXbamG0NWgkyPP7CyrDfuwv3lW4Wxc
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.228+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

Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
type: C4873
type: DOID_0050177

RA 5noqEP6lFFFCLBbjI7tPJzcCrkQQA2JZ3wUf52umI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.229+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

TFAM

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.230+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

Premature aging syndrome, Penttinen type
type: C4873
type: DOID_0050177

RAu4uTFkfdAKCim0lKPqnMtPHxeSM66Maj4Rhr663Dwgo
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.231+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

PDGFRB

RAJUqKv9FQa8FSHTZOoR9U8UCJK5zoUMIxdKXMEE9OS8w
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.231+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

Porokeratosis 9, multiple types
type: C4873
type: DOID_0050177

RA-XOEAxL1zL voNWw7GBOP8lQpEtOgLVMkNqYBbIsgCI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.233+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

Porokeratosis 7, multiple types
type: C4873
type: DOID_0050177

RAmkSNGXFYJIuLt0HWBttDfYUroBYDBocapbjsy3Z1eZQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.234+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

Myopathy, isolated mitochondrial, autosomal dominant
type: C4873
type: DOID_0050177

RAo2fIlL05HpbNixl02U2RtUwZ2jid kUDxMQrBuBN4Xo
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.237+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

CAPOS syndrome
type: C4873
type: DOID_0050177

RAv-TRfrE8ivxOtoAp-d0qPrVozUFhxbfHYffU81LJ0Uk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.239+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

FBXO38

Neuronopathy, distal hereditary motor, type IID

RAo5AeziSTXeLpxZSETjagDBq3okX6jnndiQm6531wOhE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.240+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

Spinocerebellar ataxia, autosomal recessive 18
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.241+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

GRID2

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has provenance: provenance
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created: 2019-04-01T11:08:53.241+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

Epilepsy, familial focal, with variable foci 1
type: C4873
type: DOID_0050177

RA2aSbSNq0SRIGo9LIHE1Hwpb8oYfkwWiC23NTQjCuM 4
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has provenance: provenance
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created: 2019-04-01T11:08:53.242+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

DEPDC5

RA5WDAXeKFmpTjcE42ezL2T1kWHV0yS4yFmxowR 8S048
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.243+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

Polyglucosan body myopathy 1 with or without immunodeficiency
type: C4873
type: DOID_0050177

RADZWnw-8lIiE5WVJzynic9lEzkW vH LuP8ippR1m-Sk
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.244+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

RBCK1

RA0yiaqJ8sS6BoMkKpVLMwYzJ0GeXw1a2Mcq1VRAYMIgc
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.244+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

Spinocerebellar ataxia, autosomal recessive 13
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.245+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

GRM1

RAHHIvmMukyBrhwUek-w7I-iMwGnsg 8ELUxWa--cPgBc
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has provenance: provenance
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created: 2019-04-01T11:08:53.246+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

Night blindness, congenital stationary (complete), 1E, autosomal recessive
type: C4873
type: DOID_0050177

RAujPclMBavtzTx9rSQnBccR7Sr62vtyO tkgcIhfQM E
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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.247+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

GPR179

RA sV3giAr920Ov02Lz-FAHNyCNKCAWpMHn9tpJ9Ak7-Y
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.247+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

Jawad syndrome
type: C4873
type: DOID_0050177

RA-CI6Z8vpl0hhkS6lCA-PqBbae6Uc3gPQkrejBeluaeI
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.248+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

RBBP8

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has provenance: provenance
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created: 2019-04-01T11:08:53.250+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PRDM5

Brittle cornea syndrome 2

RA6g9X2OLEyiV 5L7-89YfVcz6ID-qV HhdmkluWFUHaE
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.251+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

IKZF1

Immunodeficiency, common variable, 13

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type: Nanopublication
created: 2019-04-01T11:08:53.252+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

Treacher Collins syndrome 3
type: C4873
type: DOID_0050177

RAmGbvU5cyUCJ-s7l-VodwUXgfXTqS2zOeED L0BuWprQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.253+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

POLR1C

RAv8WXAXgwINd -7cguedG D5d57aBg01nEKiBVq5gm-k
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.253+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Van den Ende-Gupta syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.256+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

Scapuloperoneal spinal muscular atrophy
type: C4873
type: DOID_0050177

RAm22j IuuCdSk2fPptcD19y5uwC1c5Bgz4jLkH z5xG8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.258+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

Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
type: C4873
type: DOID_0050177

RAHCV-qVL-Wux5XW87KH1yrmLocBLiTVcLQhmsrd2nAdI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.259+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

RA2yrO Ekcm Yyi7j2wsJkJeunbEx 42GBFJNBFSQHGuc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.259+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

Thyroid hormone resistance, selective pituitary
type: C4873
type: DOID_0050177

RA yShs0fSynFuMJ 6aP9gkZOO28GBIFnFhIZrdkZFB1Y
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.260+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

THRB

RAospok4MYI5PHR21CGm0JpckwUroJVdhr5gutOGLx4zk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.261+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

Malouf syndrome
type: C4873
type: DOID_0050177

RAzYf6QO-35A9zgULqMhKD07Gih4OsNoM3K C2D7-g2gY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.262+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

Kininogen deficiency
type: C4873
type: DOID_0050177

RAkoclKR I3Ty2JzcafDL YiOJT6hQeSY10ryd TbkSDw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.264+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

Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
type: C4873
type: DOID_0050177

RAtswi5WqeZjdn5MhM1QEyIsKHXBSqq8LuefObyCWdmJs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.265+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

RAr80lSsWQQT5C7wNQf0y6cDhPz X3 g-zog4cgOsg6n4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.267+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

FAM20C

Raine syndrome

RApVMLMNYaCzjRflzQdqiJftcFEyJRxHxWys07mQ9CzmI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.267+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

Supranuclear palsy, progressive atypical
type: C4873
type: DOID_0050177

RA qgSI0GoMS51NyuDMbm0S0S-ZIbKv3ffzngTyiho-7Q
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.268+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

MAPT

RApCR69U1gV2MEz3kzUxaM79NKh6s34gRd2q8ZxORES6c
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.269+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

Kowarski syndrome
type: C4873
type: DOID_0050177

RAJMbNGoaaTvCp0VIVvQ zVvNMq0xaaeBJzYAAYB0vn5o
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.271+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

HEXB

Sandhoff disease, infantile, juvenile, and adult forms

RAwmWwbFWb3vXE48tLSoRfs6CHAtn6rarFZBhU-1Z5tBo
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.272+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

MASA syndrome
type: C4873
type: DOID_0050177
label: CRASH syndrome

RA8QLeqm0tM8u5ZUpTJnqRMoOvuj4ylU93ylAfgk5Hfbg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.274+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

AP1S2

Mental retardation, X-linked syndromic 5

RA5P4DUcnzNMCcrV2lMu7xeJYz-Ek4oLEy35n2RdJIL90
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.275+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Cardiomyopathy, dilated, 1E
type: C4873
type: DOID_0050177

RAsaGTVu6vv2z1lED-HTNlD7 Yw87-qVH1VPVyCDrgK44
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.276+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAkxpydTNcNniKxFXcp3tBWChIzm3QedaQDV7Toganvy4
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.277+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Huntington disease-like 2
type: C4873
type: DOID_0050177

RAG4Cv9K-jJxq8UqsAJqdZ-zuLGdTHjmZaw-VWWPBMBoE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.277+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

JPH3

RA5oBLqfp8xqDCmhovkQPfUUE9BiC6E5yH5OILXw6QpAY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.278+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

Spinocerebellar ataxia 17
type: C4873
type: DOID_0050177

RAiP0K6XmBGboeb8ET2SqCPg-J0o1I65YZD2FWS999un8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.282+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

ASPM

Microcephaly 5, primary, autosomal recessive

RA1tY-zNyJOJoIP2w04ZygZLFyNF dyLqM53qSZ7O6MiA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.284+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

CHRNA1

Myasthenic syndrome, congenital, 1B, fast-channel

RA6bQMUjMRCL7SDmQLOTdIkeyE3x1ocH3Lk3zivMAvsaQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.285+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

Mitochondrial DNA depletion syndrome 2 (myopathic type)
type: C4873
type: DOID_0050177

RAru7d5sjw374LkP6BvWckHdd9HKFQKeDzrJHi43LM7Ck
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.287+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

Immunodeficiency 25
type: C4873
type: DOID_0050177

RAq9xXk66mDnICsCanshEx0J2j80P9WLRSmbzVK-QtVFs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.287+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

CD247

RAy0BgK28q0d4X8fIfohf4M6zh5IpgWIAnjz5nL32TRwE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.289+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

Mevalonic aciduria

RAG il3AayLdAdB6a1iB7AA1nxhcfUqqEd4OCyEv6aETs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.289+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

Tumoral calcinosis, familial, normophosphatemic
type: C4873
type: DOID_0050177

RAPr5kjfypiOde4aKrHCYoVhh9u3-0LgGoUwk-m2mUKfY
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.291+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

Glass syndrome
type: C4873
type: DOID_0050177

RA HLBimyRK3V4GhXSgPtpBnN4aUBMzkCs7pSUOSb6dF0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.292+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

SATB2

RAKGreZ8mzNPteodw25zIlFQkqrT2fGLtF-NDPygaM2TE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.292+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

Spherocytosis, type 5
type: C4873
type: DOID_0050177

RA-9yyNlreObe0ivDyzWb5C6SmWoBQD7ImvNlSfvoRa7A
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.294+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

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
type: C4873
type: DOID_0050177

RA JRkBMJQxWAcQzqwZ4VOkYy4CYneFZE68mebQTwAZ-U
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.295+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

Emery-Dreifuss muscular dystrophy 5, autosomal dominant
type: C4873
type: DOID_0050177

RACadxpJkJ-VbAOLUdceS11QPyUJrf9lOJhVzSXla0ISQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.296+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

SYNE2

RAvtzGkGBS6y aKgmNNSTYyIUaIgx1VkBYet7vkeiC0Tc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.297+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Nijmegen breakage syndrome-like disorder
type: C4873
type: DOID_0050177

RAoVWPrpST8dsnU-pv3IskqIE-HUMbAA-Qn4wHZzlgtuA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.297+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

RAD50

RA8wj4Y1u8POt8eRkAmTXC7OVBC1xX6qWlhVYpzWs5ybc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.298+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

C3 deficiency
type: C4873
type: DOID_0050177

RA7Z0Fr50ISBgbYknue67IORPcM5E2ymoB0LwGSyp pJk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.299+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

C3

RA 9o8Fvf0-D Nhosd628067iY3C23FRZxvqSNaD-Cfc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.299+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

Poikiloderma with neutropenia
type: C4873
type: DOID_0050177

RAPGYxrFmMuHATGbhnAL0WWPAgrQXvzU8S- HTU2cCpTg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.302+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

Sialic acid storage disorder, infantile
type: C4873
type: DOID_0050177

RAxiE5D47QQuA5ojYIkH1BkO4PJQHFV0kblsG1Go6Sc4I
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.304+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

Spondyloperipheral dysplasia

RA2hM8Eeh4NPf06AzMlPI02N-BUKg0ZypCJmHsbhgqsjM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.306+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

KRT6A

Pachyonychia congenita 3

RA5BUFJqpNp7FK8wb3iZK87VZ0g0VC4KCVhaySZQyk Rs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.307+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

Grange syndrome
type: C4873
type: DOID_0050177

RA1o5upx0AgdUhgvNZipbfFaBASOgzaGvdZ7fuqE-Ez5w
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.307+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

YY1AP1

RA33UdGrxnY7gJT5NaNdSWwLEiGTxmmDaUZrks7jEyOgs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.308+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

Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
type: C4873
type: DOID_0050177

RAJYhWKUfk9pK6zkfyU6iFWQanQ6D PA8FYNEkW0Co5oM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.309+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

ARCN1

RAyJ0dwWnHtB6aH16WHeSnZEZ m1FVsA6SdXASen5kCXw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.310+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

Spastic paraplegia 9A, autosomal dominant
type: C4873
type: DOID_0050177

RAppoRV-hz3MYNR2Huh6emqEVprrvoH-oBZbD9jXWfs68
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.313+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

PCLO

Pontocerebellar hypoplasia, type 3

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

CTLA4

Autoimmune lymphoproliferative syndrome, type V
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:53.315+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: 2019-04-01T11:08:53.316+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: 2019-04-01T11:08:53.318+02:00
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created by: 0000-0002-7770-620X

ASPH

Traboulsi syndrome

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created by: 0000-0002-7770-620X

Agammaglobulinemia 8, autosomal dominant
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:53.320+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Palmoplantar keratoderma, Bothnian type
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:53.321+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

AQP5

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created: 2019-04-01T11:08:53.322+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Spastic paraplegia 26
type: C4873
type: DOID_0050177

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created: 2019-04-01T11:08:53.324+02:00
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created by: 0000-0002-7770-620X

BICD2

Spinal muscular atrophy, lower extremity-predominant, 2, AD

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created: 2019-04-01T11:08:53.325+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

Cerebellar ataxia and hypogonadotropic hypogonadism
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.326+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

RNF216

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created: 2019-04-01T11:08:53.326+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Dystonia 25
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.327+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

GNAL

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type: Nanopublication
created: 2019-04-01T11:08:53.328+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Nicolaides-Baraitser syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.329+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

Periodic fever, menstrual cycle dependent
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.330+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

HTR1A

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has provenance: provenance
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created: 2019-04-01T11:08:53.331+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

Dystonia 9
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.331+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SLC2A1

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created: 2019-04-01T11:08:53.333+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

Brugada syndrome 9

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created: 2019-04-01T11:08:53.334+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

KLF1

Dyserythropoietic anemia, congenital, type IV

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.335+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

Ectodermal dysplasia-syndactyly syndrome 1
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.336+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

NECTIN4

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.336+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

Spermatogenic failure 6
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.337+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

SPATA16

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.338+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

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.339+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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type: Nanopublication
created: 2019-04-01T11:08:53.339+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

Spastic paraplegia 4, autosomal dominant
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.341+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

Vasculopathy, retinal, with cerebral leukodystrophy
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.342+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

Acyl-CoA dehydrogenase, medium chain, deficiency of
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.343+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

ACADM

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has provenance: provenance
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created: 2019-04-01T11:08:53.344+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

3-Methylcrotonyl-CoA carboxylase 2 deficiency
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.344+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

MCCC2

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.347+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

Griscelli syndrome, type 1
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.347+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

MYO5A

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.349+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

PSAP

Metachromatic leukodystrophy due to SAP-b deficiency

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type: Nanopublication
created: 2019-04-01T11:08:53.351+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Tetra-amelia syndrome
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.351+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

WNT3

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created: 2019-04-01T11:08:53.353+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Danon disease
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.354+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LAMP2

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created: 2019-04-01T11:08:53.355+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Emery-Dreifuss muscular dystrophy 6, X-linked
type: C4873
type: DOID_0050177
label: Myopathy, X-linked, with postural muscle atrophy

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created: 2019-04-01T11:08:53.356+02:00
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: 2019-04-01T11:08:53.357+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Chondrodysplasia punctata, X-linked recessive
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.358+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

ARSE

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.360+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Glycerol kinase deficiency
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.361+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

Premature ovarian failure 1
type: C4873
type: DOID_0050177

RA bPsWcNgqwlZPEJJLLbRMMcffOEQccId40j6VeQ7izA
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.362+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

FMR1

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has provenance: provenance
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created: 2019-04-01T11:08:53.363+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

Pyruvate dehydrogenase E1-alpha deficiency
type: C4873
type: DOID_0050177

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has provenance: provenance
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created: 2019-04-01T11:08:53.364+02:00
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created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

PDHA1

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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.364+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

Myasthenic syndrome, congenital, 1A, slow-channel
type: C4873
type: DOID_0050177

RA x0F9MPJ9tVtUDScpnlV-5fqN-IfukMyPWWSLmw4Nck
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has provenance: provenance
has publication info: pubinfo
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created: 2019-04-01T11:08:53.366+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

RA5vVyXjAlPGhBvdw -bPiu6Sbe4KsZ6tqPmOQlWYPJ7o
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.367+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

RAhn9r5j6yCz N1h-VBz-Tfxso63aMN0NKZMWn1lG8lKQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.367+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

Seizures, benign familial infantile, 3
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.370+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

Macular dystrophy, vitelliform, 3

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.370+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

Disordered steroidogenesis due to cytochrome P450 oxidoreductase
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.371+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

POR

RA-nbAM28qXEIrAAhIo77-Ox-nHfX-x-xnF9K RU6UcMY
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.372+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Lactate dehydrogenase-B deficiency
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.373+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

LDHB

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.374+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

APRT

Adenine phosphoribosyltransferase deficiency

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.374+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Myopathy, myofibrillar, 1
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.375+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

DES

RAt8iGKXB p-N 4lLxI9hJZCLu5E71po1JbJuelJxE8DU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.376+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

Surfactant metabolism dysfunction, pulmonary, 1
type: C4873
type: DOID_0050177

RA0xpxj9XTF6imMJ9PThx4md7-medvDb yWYfbyXzBgoQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.376+02:00
rights: http://creativecommons.org/publicdomain/zero/1.0/
created by: http://orcid.org/0000-0001-7542-0286
created by: 0000-0002-7770-620X

SFTPB

RALC06VNIrHVqm 2Lm9mTP-c6QHEKYixEWBVEvfcmdcNs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.377+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

Leukoencephalopathy, brain calcifications, and cysts
type: C4873
type: DOID_0050177

RAwTPk6vdboJk40Kz7RP0HYRuvSlZfsHI-5cH6SL8YKDk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.378+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

Ohdo syndrome, X-linked
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.380+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

POC1A

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.381+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

WIPF1

Wiskott-Aldrich syndrome 2

RAGq0Xjf3pRqGczOF53hCNcGVr3ElsarSVxP21EwNo 0k
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.382+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

SED, Maroteaux type
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.383+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

RAkq-SD9GKSa4SZ7 1sDo4BYcoW6kH4bCq8GkcE kxIic
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.383+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

Hennekam lymphangiectasia-lymphedema syndrome 1
type: C4873
type: DOID_0050177

RAvb XK2OVqxSt5yUR 41HZ1n7KJKn9RPT6 1Ocmej-qM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.384+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

CCBE1

RAhJnxCfou0KyQIP1FG5NybaXg-C AB50Q2lk4iqO0o4w
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.385+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

DLX3

Amelogenesis imperfecta, type IV

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.386+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

KRT5

Epidermolysis bullosa simplex-MP

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.387+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

Epiphyseal dysplasia, multiple, with myopia and deafness
type: C4873
type: DOID_0050177

RAxDAdnHoUnMxZ8x18CTzOOAQ2TpIe6Yxguz19dqZrhE8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.388+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

RAlAOrAsoF8dr1bMmdNma2OLbxWejbsxG7s3uLO0 b8Ko
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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.389+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

Foveal hypoplasia 1

RA3XtwKMoUd5d0ur-APYPTy579 evumHTIFJ7j0QnrHSw
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.390+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

RET

RAJO9P3sapiDRh8Tt nczEKjkJuWpqVKrWaAnIYXI2y28
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.391+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

Alpha-methylacetoacetic aciduria
type: C4873
type: DOID_0050177

RA0I3bbRBu3Mx4M3bfjwrTXQ6HF-wOx0pS2GWuzwxutqU
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.392+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

Ghosal hematodiaphyseal syndrome
type: C4873
type: DOID_0050177

RArvQfViuzUGliz0QsJ2TGO8AT44vaDNnE80GJfL8jses
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.393+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

TBXAS1

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.393+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

Molybdenum cofactor deficiency A
type: C4873
type: DOID_0050177

RAMuwyJMoTQ2J0XNN1bDL1vHK62v7UYCsQPF5efoBLkOk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.394+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

MOCS1

RAAVZWqoBh35F0BuizisL50OpdZGFJJ6M1P4wkDsTugKI
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.395+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

Myeloperoxidase deficiency
type: C4873
type: DOID_0050177

RA P9Ibwq2GB2V-sNY0ulbR4KoZsfNcW-SUIr4h7WRV5Q
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.395+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

MPO

RA HSrqzMyQ8 9ZTzHtBHrnfc S9koH3D9uATjRpLWDos
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.396+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

GM2-gangliosidosis, AB variant
type: C4873
type: DOID_0050177

RALEX3de 9jdX7HS7HSXX5pTiQ9E2LvB4gHP qUbS 47A
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.396+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

GM2A

RA6jiBVRX5Nm9lb5aeP563w3E9XkKOYMQjb7vlstbPkLk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.398+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

RPGR

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness

RA8pSc2Vuks6DO0Qa8xJx-TrilGsmBQw2un9NMjtHiE0A
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.399+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

EBP

Chondrodysplasia punctata, X-linked dominant
type: C4873
type: DOID_0050177

RA5tRA0fLqjqHvb81yhLnwRPkK-GsGuuWgMNjkusRfzqg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.399+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

RAiu9VBJcg9S06qdxTuMQ1pDMp6tNxqrRXvglBSHm92C0
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.400+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

RAuZfA5QRVztJpENKAHEA6DlWud65vyZiTnkLHybivVXk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.401+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

RAHCXmvkCWTwZUDkWqBJGQY7aEtRNhLE8PlM4tFtn0QVM
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.402+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

L1CAM

RAifXh9s3Dx4u8l8PZMldpYQT3td9yI70OHtHfHEVAe c
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.403+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

RAIRh-JfuKYLFAYd0y9sFXB3dbr9q2T-tJBPche22Wdmk
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.404+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

Salla disease
type: C4873
type: DOID_0050177

RA0otbAq9Dmv4SSLWtCKYAIC2GElSS0IR- gGlSub3uVc
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.406+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

Nonaka myopathy
type: C4873
type: DOID_0050177

RAsxQ3EZol-xhQKlP0S76U-4X7ibQM1BzkWwFUhIFF Vs
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.407+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

Nephronophthisis 4
type: C4873
type: DOID_0050177

RA8tG-yIo R39KmPJzR9X0JsPpi9rEd4shenSQ9hQYaaQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.408+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

Aphasia, primary progressive
type: C4873
type: DOID_0050177
label: Frontotemporal lobar degeneration with ubiquitin-positive inclusions

RAwRTeirSXZRghTs4BZwWPWFcrO3RsXGfkEqTaHJSh7Fg
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.409+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

GRN

RA0ceFDLY8jzGY5CgtnAo8BfjaXHxBYRX0cIH3G5iQ5IE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.410+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

RAjv H2dgtoDslRLUqmZVJ5GbcNsobbvNcWoZ-S3CkvuE
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.411+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

Myopathy, myofibrillar, 2
type: C4873
type: DOID_0050177

RADHdigOhyxJe3DyoF4a5CpytxE8wahutXDa6QmyeDVMQ
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.411+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

RA yuA0yGxyPLAYwbosmeUJWM8-0 icvmXsYUOU0ZzMtA
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.412+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

Hypomagnesemia 4, renal
type: C4873
type: DOID_0050177

RAFA3TI TEoMw6oN 8aRafYsGO7TDXGrYe7uhP6uwP-c
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.413+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

EGF

RAprizP6J0HJSO7GRXDUUhC Iji97n1k6a5tbZw7qp0Ds
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.413+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

Hemolytic anemia due to adenylate kinase deficiency
type: C4873
type: DOID_0050177

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type: Nanopublication
created: 2019-04-01T11:08:53.414+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

AK1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.415+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

ALAD

Porphyria, acute hepatic

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has provenance: provenance
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type: Nanopublication
created: 2019-04-01T11:08:53.416+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

Mental retardation, X-linked 91
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.418+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

DNMT3B

Immunodeficiency-centromeric instability-facial anomalies syndrome 1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.418+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

Cholestasis, progressive familial intrahepatic 2
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.419+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

ABCB11

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.420+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

Bile acid malabsorption, primary
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.420+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

SLC10A2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.421+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

Simpson-Golabi-Behmel syndrome, type 1
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.422+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

GPC3

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.424+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

Glutaricaciduria, type I
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.425+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

Argininemia
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.425+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

ARG1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.426+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

Fucosidosis
type: C4873
type: DOID_0050177

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.427+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

FUCA1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.427+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

Norum disease
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.429+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

Pierpont syndrome
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.429+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

TBL1XR1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.430+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

Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.430+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

IARS2

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.431+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

Van Maldergem syndrome 1
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.432+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

RAokGXP2C1zWnnaesKZTTeS1zMDn1OF3Mc3OGiUQYEoL8
has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.432+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

Hypocalciuric hypercalcemia, type II
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.434+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

Hypocalciuric hypercalcemia, type III
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.434+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

AP2S1

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has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.435+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

Focal facial dermal dysplasia 4
type: C4873
type: DOID_0050177

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has assertion: assertion
has provenance: provenance
has publication info: pubinfo
type: Nanopublication
created: 2019-04-01T11:08:53.438+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

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
type: C4873
type: DOID_0050177