DOID:0060799
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syndromic X-linked intellectual disability Lubs type
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Aliases:
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Lubs X-linked mental retardation syndrome
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MECP2 duplication syndrome
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MRXSL
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X-linked intellectual disability-hypotonia-recurrent Infections syndrome
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mental retardation, X-linked, syndromic, Lubs type
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mental retardation, X-linked, with recurrent respiratory infections
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Homo sapiens (human)
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DOID:0060801
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MEHMO syndrome
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Aliases:
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MRXS20
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MRXS25
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X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
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mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
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syndromic X-linked mental retardation 20
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syndromic X-linked mental retardation 25
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Homo sapiens (human)
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DOID:0060805
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Prieto syndrome
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Aliases:
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Prieto-Badia-Mulas syndrome
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X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
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Homo sapiens (human)
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DOID:0060806
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syndromic X-linked intellectual disability Hedera type
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Aliases:
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MRXE
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MRXSH
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X-linked mental retardation with epilepsy
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mental retardation, X-linked, syndromic, Hedera type
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Homo sapiens (human)
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DOID:0060807
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syndromic X-linked intellectual disability Najm type
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Aliases:
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MICPCH
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X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
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mental retardation and microcephaly with pontine and cerebellar hypoplasia
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Homo sapiens (human)
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DOID:0060809
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syndromic X-linked intellectual disability Claes-Jensen type
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Aliases:
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MRXSCJ
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MRXSJ
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mental retardation, X-linked, syndromic, Claes-Jensen type
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syndromic X-linked intellectual disability due to JARID1C mutation
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syndromic X-linked mental retardation JARID1C-related
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Homo sapiens (human)
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DOID:0060810
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syndromic X-linked intellectual disability type 10
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Aliases:
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HSD10 deficiency, atypical type
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HSD10 disease, atypical type
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MRXS10
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X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
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mental retardation, X-linked syndromic 10
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Homo sapiens (human)
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DOID:0060811
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syndromic X-linked intellectual disability Turner type
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Aliases:
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Brooks-Wisniewski-Brown syndrome
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MRXST
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X-linked intellectual disability, Brooks type
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mental retardation and macrocephaly syndrome
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mental retardation, X-linked syndromic, Turner type
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Homo sapiens (human)
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DOID:0060812
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syndromic X-linked intellectual disability Siderius type
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Aliases:
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MRXSSD
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Siderius X-linked mental retardation syndrome
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Siderius-Hamel syndrome
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mental retardation syndrome, X-linked, Siderius type
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Homo sapiens (human)
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DOID:0060814
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Wilson-Turner syndrome
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Aliases:
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MRXS6
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WTS
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X-linked intellectual disability-gynecomastia-obesity syndrome
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mental retardation, X-linked, syndromic 6
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mental retardation, X-linked, with gynecomastia and obesity
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Homo sapiens (human)
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DOID:0060817
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syndromic X-linked intellectual disability 34
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Aliases:
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MRXS34
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MRXSML
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macrocephaly-intellectual disability-left ventricular non compaction syndrome
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mental retardation, X-linked, syndromic 34
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syndromic X-linked mental retardation Mircsof-Langouet type
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Homo sapiens (human)
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DOID:0060821
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syndromic X-linked intellectual disability 14
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Aliases:
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mental retardation, X-linked, syndromic 14
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Homo sapiens (human)
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DOID:0060822
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syndromic X-linked intellectual disability Cabezas type
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Aliases:
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Cabezas syndrome; syndromic X-linked mental retardation 15
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MRSS
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MRXS15
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MRXSC
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X-linked mental retardation with short stature
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X-linked mental retardation with short stature, hypogonadism, and abnormal gait
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mental retardation, X-linked, syndromic 15
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mental retardation, X-linked, syndromic 15 (Cabezas type)
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Homo sapiens (human)
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DOID:0060823
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syndromic X-linked intellectual disability 94
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Aliases:
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MRX94
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MRXS29
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mental retardation, X-linked 94
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syndromic X-linked intellectual disability due to GRIA3 anomalies
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syndromic X-linked mental retardation 29
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syndromic X-linked mental retardation Wu type
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Homo sapiens (human)
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DOID:0060825
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Christianson syndrome
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Aliases:
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MRXSCH
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X-linked Angelman-like syndrome
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X-linked intellectual disability, South African type
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X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
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mental retardation, X-linked syndromic, Christianson type
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mental retardation, microcephaly, epilepsy, and ataxia syndrome
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Homo sapiens (human)
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DOID:0060826
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syndromic X-linked intellectual disability Shashi type
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Aliases:
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MRXS11
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SMRXS
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Shashi X-linked mental retardation syndrome
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X-linked mental retardation Shashi type
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mental retardation, X-linked, syndromic 11, Shashi type
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syndromic X-linked intellectual disability type 11
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Homo sapiens (human)
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DOID:0060827
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X-linked intellectual disability-psychosis-macroorchidism syndrome
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Aliases:
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Lindsay-Burn syndrome
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MRXS13
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PPM-X
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X-linked mental retardation 79
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X-linked mental retardation with spasticity
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mental retardation with psychosis, pyramidal signs, and macroorchidism
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mental retardation, X-linked, syndromic 13
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Homo sapiens (human)
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DOID:0060832
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Griscelli syndrome type 1
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Aliases:
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GS1
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Griscelli syndrome with neurological impairment
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Griscelli syndrome, cutaneous and neurological type
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Griscelli-Prunieras syndrome type 1
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hypopigmentation-neurologic impairment syndrome
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Homo sapiens (human)
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DOID:0060835
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isolated microphthalmia 6
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Aliases:
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MCOP6
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posterior nonsyndromic microphthalmia
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Homo sapiens (human)
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DOID:0060836
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isolated microphthalmia 4
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Aliases:
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Homo sapiens (human)
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DOID:0060837
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isolated microphthalmia 5
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Aliases:
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MCOP5
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microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
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posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen
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Homo sapiens (human)
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DOID:0060838
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isolated microphthalmia 7
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Aliases:
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Homo sapiens (human)
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DOID:0060841
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isolated microphthalmia 8
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Aliases:
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Homo sapiens (human)
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DOID:0060843
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hereditary neuropathy with liability to pressure palsies
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Aliases:
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HNPP
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current pressure-sensitive neuropathy
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familial recurrent polyneuropathy
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heterozygous microdeletion 17p11.2p12
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potato-grubbing palsy
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tomaculous neuropathy
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tulip-bulb digger's palsy
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Homo sapiens (human)
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DOID:0060844
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Norrie disease
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Aliases:
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Episkopi blindness
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Norrie-Warburg disease
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atrophia bulborum hereditaria
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Homo sapiens (human)
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