(Q27674750)

English

lethal congenital contracture syndrome 3

lethal congenital contracture syndrome that has material basis in homozygous mutation in the PIP5K1C gene on chromosome 19p13

Israeli Bedouin type B multiple contracture syndrome
Lethal congenital contractural syndrome 3
LCCS3

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instance of

rare disease

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stated in

Gene-Rare Disease-Provenance dataset collection

class of disease

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subclass of

lethal congenital contracture syndrome

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30 November 2020

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15 May 2019

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Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway

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WikiProject Medicine

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exact match

http://purl.obolibrary.org/obo/DOID_0060653

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30 November 2020

http://identifiers.org/doid/DOID:0060653

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https://registry.identifiers.org/registry/doid

Identifiers

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30 November 2020

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Online Mendelian Inheritance in Man

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28 August 2019

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(Q27674750)

lethal congenital contracture syndrome 3

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